Generated Narrative: ValueSet eHDSIRareDisease Include these codes as defined in https://www.orpha.net version Not Stated (use latest from terminology server) Code Display 5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 6 3-methylcrotonyl-CoA carboxylase deficiency 7 3C syndrome 8 47,XYY syndrome 9 Tetrasomy X 10 48,XXYY syndrome 11 Pentasomy X 13 6-pyruvoyl-tetrahydropterin synthase deficiency 14 Abetalipoproteinemia 15 Achondroplasia 16 Blue cone monochromatism 17 Fatal infantile lactic acidosis with methylmalonic aciduria 18 Distal renal tubular acidosis 20 3-hydroxy-3-methylglutaric aciduria 22 Succinic semialdehyde dehydrogenase deficiency 23 Argininosuccinic aciduria 24 Fumaric aciduria 25 Glutaryl-CoA dehydrogenase deficiency 26 Methylmalonic acidemia with homocystinuria 27 Vitamin B12-unresponsive methylmalonic acidemia 28 Vitamin B12-responsive methylmalonic acidemia 29 Mevalonic aciduria 30 Hereditary orotic aciduria 31 Oxoglutaric aciduria 32 Glutathione synthetase deficiency 33 Isovaleric acidemia 35 Propionic acidemia 36 Acrocallosal syndrome 37 Acrodermatitis enteropathica 38 Acrokeratoelastoidosis of Costa 39 Acromelanosis 40 Acromesomelic dysplasia, Maroteaux type 41 Dyschromatosis symmetrica hereditaria 42 Medium chain acyl-CoA dehydrogenase deficiency 43 X-linked adrenoleukodystrophy 44 Neonatal adrenoleukodystrophy 45 Adenosine monophosphate deaminase deficiency 46 Adenylosuccinate lyase deficiency 47 X-linked agammaglobulinemia 48 Congenital bilateral absence of vas deferens 49 Penile agenesis 50 Aicardi syndrome 51 Aicardi-Goutières syndrome 52 Alagille syndrome 53 Albers-Schönberg osteopetrosis 54 X-linked recessive ocular albinism 56 Alkaptonuria 57 Glycogen storage disease due to aldolase A deficiency 58 Alexander disease 59 Allan-Herndon-Dudley syndrome 60 Alpha-1-antitrypsin deficiency 61 Alpha-mannosidosis 62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 63 Alport syndrome 64 Alström syndrome 65 Leber congenital amaurosis 67 Amoebiasis due to Entamoeba histolytica 68 Amoebiasis due to free-living amoebae 70 Proximal spinal muscular atrophy 71 Chylomicron retention disease 72 Angelman syndrome 73 Gorham-Stout disease 74 Angiostrongyliasis 76 Strongyloidiasis 78 Ankylostomiasis 79 Congenital alpha2-antiplasmin deficiency 80 Antiphospholipid syndrome 81 Antisynthetase syndrome 82 Hereditary thrombophilia due to congenital antithrombin deficiency 83 Antley-Bixler syndrome 84 Fanconi anemia 86 Familial abdominal aortic aneurysm 87 Apert syndrome 88 Idiopathic aplastic anemia 90 Argininemia 91 Aromatase deficiency 93 Aspartylglucosaminuria 95 Friedreich ataxia 96 Ataxia with vitamin E deficiency 97 Familial paroxysmal ataxia 98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 100 Ataxia-telangiectasia 101 Dentatorubral pallidoluysian atrophy 102 Multiple system atrophy 104 Leber hereditary optic neuropathy 105 Atresia of urethra 107 BOR syndrome 108 Babesiosis 109 Bannayan-Riley-Ruvalcaba syndrome 110 Bardet-Biedl syndrome 111 Barth syndrome 112 Bartter syndrome 113 Bazex-Dupré-Christol syndrome 114 Auriculoosteodysplasia 115 Congenital contractural arachnodactyly 116 Beckwith-Wiedemann syndrome 117 Behçet disease 118 Beta-mannosidosis 119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 122 Birt-Hogg-Dubé syndrome 123 Björnstad syndrome 124 Diamond-Blackfan anemia 125 Bloom syndrome 126 Blepharophimosis-ptosis-epicanthus inversus syndrome 127 Borjeson-Forssman-Lehmann syndrome 128 Diphyllobothriasis 129 Pseudopelade of Brocq 130 Brugada syndrome 131 Budd-Chiari syndrome 132 Hereditary butyrylcholinesterase deficiency 133 Chronic beryllium disease 134 Beta-ketothiolase deficiency 135 CACH syndrome 136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy 138 CHARGE syndrome 139 CHILD syndrome 140 Campomelic dysplasia 141 Canavan disease 142 Anaplastic thyroid carcinoma 143 Parathyroid carcinoma 144 Lynch syndrome 145 Hereditary breast and/or ovarian cancer syndrome 146 Differentiated thyroid carcinoma 147 Carbamoyl-phosphate synthetase 1 deficiency 150 Nasopharyngeal carcinoma 154 Familial isolated dilated cardiomyopathy 156 Carnitine palmitoyl transferase 1A deficiency 157 Carnitine palmitoyltransferase II deficiency 158 Systemic primary carnitine deficiency 159 Carnitine-acylcarnitine translocase deficiency 160 Castleman disease 162 Congenital cataract-anterior segment dysgenesis syndrome 163 Hereditary hyperferritinemia-cataract syndrome 167 Chédiak-Higashi syndrome 168 Loose anagen syndrome 169 Ringed hair disease 170 Woolly hair 171 Primary sclerosing cholangitis 172 Progressive familial intrahepatic cholestasis 173 Cholera 174 Metaphyseal chondrodysplasia, Schmid type 175 Cartilage-hair hypoplasia 177 Rhizomelic chondrodysplasia punctata 178 Chordoma 179 Birdshot chorioretinopathy 180 Choroideremia 181 X-linked hypohidrotic ectodermal dysplasia 182 Chromomycosis 183 Eosinophilic granulomatosis with polyangiitis 184 Cherubism 185 Scimitar syndrome 186 Primary biliary cholangitis 188 Systemic capillary leak syndrome 189 Hidrotic ectodermal dysplasia 190 Coats disease 191 Cockayne syndrome 192 Coffin-Lowry syndrome 193 Cohen syndrome 195 Cat-eye syndrome 198 Occipital horn syndrome 199 Cornelia de Lange syndrome 200 Isolated corpus callosum agenesis 201 Cowden syndrome 202 Crandall syndrome 204 Sporadic Creutzfeldt-Jakob disease 205 Crigler-Najjar syndrome 207 Crouzon syndrome 210 Cyclosporiasis 211 Familial cylindromatosis 212 Cystathioninuria 213 Cystinosis 214 Cystinuria 215 Congenital stationary night blindness 217 Isolated Dandy-Walker malformation 218 Darier disease 219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 220 Denys-Drash syndrome 221 Dermatomyositis 222 Erosive pustular dermatosis of the scalp 223 Arginine vasopressin resistance 226 Dihydropteridine reductase deficiency 227 Diphallia 229 Familial aortic dissection 230 Dopamine beta-hydroxylase deficiency 231 Dracunculiasis 232 Sickle cell anemia 233 Duane retraction syndrome 234 Dubin-Johnson syndrome 235 Dubowitz syndrome 236 Trisomy 9p 237 Duplication of urethra 239 Dyggve-Melchior-Clausen disease 240 Léri-Weill dyschondrosteosis 241 Dyschromatosis universalis hereditaria 242 46,XY complete gonadal dysgenesis 243 46,XX gonadal dysgenesis 244 Primary ciliary dyskinesia 245 Nager syndrome 246 Postaxial acrofacial dysostosis 248 Autosomal recessive hypohidrotic ectodermal dysplasia 249 Fibrous dysplasia of bone 256 Early-onset generalized limb-onset dystonia 257 Epidermolysis bullosa simplex with muscular dystrophy 258 Laminin subunit alpha 2-related congenital muscular dystrophy 261 Emery-Dreifuss muscular dystrophy 266 Autosomal dominant limb-girdle muscular dystrophy type 1A 267 Calpain-3-related limb-girdle muscular dystrophy R1 268 Dysferlin-related limb-girdle muscular dystrophy R2 269 Facioscapulohumeral dystrophy 270 Oculopharyngeal muscular dystrophy 272 Congenital muscular dystrophy, Fukuyama type 273 Steinert myotonic dystrophy 274 Bernard-Soulier syndrome 275 Severe combined immunodeficiency due to DCLRE1C deficiency 276 T-B+ severe combined immunodeficiency due to gamma chain deficiency 277 Severe combined immunodeficiency due to adenosine deaminase deficiency 280 Wolf-Hirschhorn syndrome 281 Monosomy 5p 283 Demodicidosis 284 Alveolar echinococcosis 285 Hypermobile Ehlers-Danlos syndrome 286 Vascular Ehlers-Danlos syndrome 287 Classical Ehlers-Danlos syndrome 288 Hereditary elliptocytosis 289 Ellis Van Creveld syndrome 290 Congenital rubella syndrome 291 Congenital varicella syndrome 292 Congenital enterovirus infection 293 Congenital herpes simplex virus infection 294 Fetal cytomegalovirus syndrome 295 Fetal parvovirus syndrome 296 Ollier disease 297 Tick-borne encephalitis 298 Mitochondrial neurogastrointestinal encephalomyopathy 300 Bifunctional enzyme deficiency 302 Inherited epidermodysplasia verruciformis 306 Benign familial infantile epilepsy 307 Juvenile myoclonic epilepsy 308 Progressive myoclonic epilepsy type 1 312 Autosomal dominant epidermolytic ichthyosis 313 Lamellar ichthyosis 314 Erythroderma desquamativum 315 Erythrokeratoderma ''en cocardes'' 316 Progressive symmetric erythrokeratodermia 317 Erythrokeratodermia variabilis 318 Acute erythroid leukemia 319 Skeletal Ewing sarcoma 320 Apparent mineralocorticoid excess 321 Multiple osteochondromas 322 Exstrophy-epispadias complex 324 Fabry disease 325 Congenital factor II deficiency 326 Congenital factor V deficiency 327 Congenital factor VII deficiency 328 Congenital factor X deficiency 329 Congenital factor XI deficiency 330 Congenital factor XII deficiency 331 Congenital factor XIII deficiency 332 Congenital intrinsic factor deficiency 333 Farber disease 334 Familial atrial fibrillation 335 Congenital fibrinogen deficiency 337 Fibrodysplasia ossificans progressiva 340 Hemorrhagic fever-renal syndrome 342 Familial Mediterranean fever 343 Hyperimmunoglobulinemia D with periodic fever 345 Dissecting cellulitis of the scalp 346 Quinquaud folliculitis decalvans 347 Frasier syndrome 348 Fructose-1,6-bisphosphatase deficiency 349 Fucosidosis 351 Galactosialidosis 353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 354 GM1 gangliosidosis 355 Gaucher disease 356 Gerstmann-Straussler-Scheinker syndrome 358 Gitelman syndrome 360 Glioblastoma 361 Familial glucocorticoid deficiency 364 Glycogen storage disease due to glucose-6-phosphatase deficiency 365 Glycogen storage disease due to acid maltase deficiency 366 Glycogen storage disease due to glycogen debranching enzyme deficiency 367 Glycogen storage disease due to glycogen branching enzyme deficiency 368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency 369 Glycogen storage disease due to liver glycogen phosphorylase deficiency 371 Glycogen storage disease due to muscle phosphofructokinase deficiency 373 Simpson-Golabi-Behmel syndrome 375 Anti-glomerular basement membrane disease 376 Gordon syndrome 377 Gorlin syndrome 379 Chronic granulomatous disease 380 Greig cephalopolysyndactyly syndrome 381 Griscelli syndrome 382 Guanidinoacetate methyltransferase deficiency 384 Huriez syndrome 386 Hepatic cystic hamartoma 388 Hirschsprung disease 389 Langerhans cell histiocytosis 390 Histoplasmosis 391 Classic Hodgkin lymphoma 392 Holt-Oram syndrome 393 46,XX testicular difference of sex development 394 Homocystinuria due to cystathionine beta-synthase deficiency 395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency 396 Chronic hiccup 397 Giant cell arteritis 399 Huntington disease 400 Cystic echinococcosis 401 Hymenolepiasis 403 Familial hyperaldosteronism type I 404 Familial hyperaldosteronism type II 405 Familial hypocalciuric hypercalcemia 407 Glycine encephalopathy 408 Isolated glycerol kinase deficiency 409 Hyperkeratosis lenticularis perstans 412 Dysbetalipoproteinemia 414 Gyrate atrophy of choroid and retina 415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 416 Primary hyperoxaluria 417 Neonatal severe primary hyperparathyroidism 419 Hyperprolinemia type 1 422 Idiopathic/heritable pulmonary arterial hypertension 423 Malignant hyperthermia of anesthesia 424 Familial hyperthyroidism due to mutations in TSH receptor 425 Apolipoprotein A-I deficiency 427 Familial hypoaldosteronism 428 Autosomal dominant hypocalcemia 429 Hypochondroplasia 432 Normosmic congenital hypogonadotropic hypogonadism 436 Hypophosphatasia 439 Isolated right ventricular hypoplasia 441 Pure autonomic failure 444 Marie Unna hereditary hypotrichosis 446 Neonatal hemochromatosis 447 Paroxysmal nocturnal hemoglobinuria 449 Hepatoblastoma 452 X-linked lissencephaly with abnormal genitalia 454 Acquired ichthyosis 455 Superficial epidermolytic ichthyosis 457 Harlequin ichthyosis 461 Recessive X-linked ichthyosis 464 Incontinentia pigmenti 465 Congenital plasminogen activator inhibitor type 1 deficiency 466 Fatal familial insomnia 469 Hereditary fructose intolerance 470 Lysinuric protein intolerance 472 Isosporiasis 474 Jeune syndrome 475 Joubert syndrome 477 KID syndrome 478 Kallmann syndrome 480 Kearns-Sayre syndrome 481 Kennedy disease 482 Kimura disease 483 Congenital high-molecular-weight kininogen deficiency 485 Kniest dysplasia 486 Autosomal dominant severe congenital neutropenia 487 Krabbe disease 488 Urachal cyst 490 Omphalomesenteric cyst 492 Proliferating trichilemmal cyst 493 Familial keratoacanthoma 494 Keratoderma hereditarium mutilans 495 Transgrediens et progrediens palmoplantar keratoderma 499 Kerion celsi 500 Noonan syndrome with multiple lentigines 501 Lafora disease 502 Trichorhinophalangeal syndrome type 2 503 Larsen syndrome 504 Creeping myiasis 505 Graham Little-Piccardi-Lassueur syndrome 506 Leigh syndrome 507 Leishmaniasis 508 Leprechaunism 509 Leptospirosis 510 Lesch-Nyhan syndrome 511 Maple syrup urine disease 512 Metachromatic leukodystrophy 514 Acute monoblastic/monocytic leukemia 517 Acute myelomonocytic leukemia 518 Acute megakaryoblastic leukemia 520 Acute promyelocytic leukemia 521 Chronic myeloid leukemia 523 Hereditary leiomyomatosis and renal cell cancer 524 Li-Fraumeni syndrome 525 Lichen planopilaris 526 Liddle syndrome 528 Congenital generalized lipodystrophy 529 Roch-Leri mesosomatous lipomatosis 530 Lipoid proteinosis 531 Miller-Dieker syndrome 533 Listeriosis 534 Oculocerebrorenal syndrome of Lowe 536 Systemic lupus erythematosus 537 Toxic epidermal necrolysis 538 Lymphangioleiomyomatosis 540 Familial hemophagocytic lymphohistiocytosis 543 Burkitt lymphoma 545 Follicular lymphoma 548 Leprosy 549 Legionnaires disease 550 MELAS 551 MERRF 552 MODY 556 Malakoplakia 558 Marfan syndrome 559 Marinesco-Sjögren syndrome 560 Marshall syndrome 561 Marshall-Smith syndrome 562 McCune-Albright syndrome 563 Peripartum cardiomyopathy 564 Meckel syndrome 565 Menkes disease 566 Congenital microcoria 567 22q11.2 deletion syndrome 568 Microphthalmia, Lenz type 569 Familial or sporadic hemiplegic migraine 570 Moebius syndrome 572 Immunodeficiency by defective expression of MHC class II 573 Monilethrix 574 21q deletion syndrome 575 Muckle-Wells syndrome 576 Mucolipidosis type II 577 Mucolipidosis type III 578 Mucolipidosis type IV 579 Mucopolysaccharidosis type 1 580 Mucopolysaccharidosis type 2 581 Mucopolysaccharidosis type 3 582 Mucopolysaccharidosis type 4 583 Mucopolysaccharidosis type 6 584 Mucopolysaccharidosis type 7 585 Multiple sulfatase deficiency 586 Cystic fibrosis 588 Muscle-eye-brain disease 589 Myasthenia gravis 590 Congenital myasthenic syndrome 591 Furuncular myiasis 592 Macrophagic myofasciitis 596 X-linked centronuclear myopathy 597 Central core disease 598 Multiminicore myopathy 600 Vocal cord and pharyngeal distal myopathy 602 GNE myopathy 603 Distal myopathy, Welander type 606 Proximal myotonic myopathy 609 Tibial muscular dystrophy 610 Bethlem muscular dystrophy 611 Inclusion body myositis 614 Thomsen and Becker disease 615 Familial atrial myxoma 616 Medulloblastoma 617 Congenital primary megaureter 618 Familial melanoma 621 Hereditary methemoglobinemia 622 Homocystinuria without methylmalonic aciduria 624 Familial multiple nevi flammei 626 Large congenital melanocytic nevus 627 Nance-Horan syndrome 628 Diastrophic dysplasia 629 Short stature due to growth hormone qualitative anomaly 631 Non-acquired isolated growth hormone deficiency 632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 633 Laron syndrome 634 Netherton syndrome 635 Neuroblastoma 636 Neurofibromatosis type 1 637 Full NF2-related schwannomatosis 638 Neurofibromatosis-Noonan syndrome 639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG 640 Hereditary neuropathy with liability to pressure palsies 641 Multifocal motor neuropathy 642 Hereditary sensory and autonomic neuropathy type 4 643 Giant axonal neuropathy 644 NARP syndrome 646 Niemann-Pick disease type C 647 Nijmegen breakage syndrome 648 Noonan syndrome 649 Norrie disease 650 LCAT deficiency 652 Multiple endocrine neoplasia type 1 653 Multiple endocrine neoplasia type 2 654 Nephroblastoma 655 Nephronophthisis 656 Genetic steroid-resistant nephrotic syndrome 659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques 660 Omphalocele 661 Congenital central hypoventilation syndrome 662 Yellow nail syndrome 663 Mitochondrial DNA-related progressive external ophthalmoplegia 664 Ornithine transcarbamylase deficiency 666 Osteogenesis imperfecta 667 Autosomal recessive malignant osteopetrosis 668 Osteosarcoma 672 Pallister-Hall syndrome 673 Malaria 674 Accessory pancreas 675 Annular pancreas 676 Hereditary chronic pancreatitis 677 Pancreatoblastoma 678 Papillon-Lefèvre syndrome 679 Malignant atrophic papulosis 681 Hypokalemic periodic paralysis 682 Hyperkalemic periodic paralysis 683 Progressive supranuclear palsy 684 Paramyotonia congenita of Von Eulenburg 699 Pearson syndrome 700 Alopecia totalis 701 Alopecia universalis 702 Pelizaeus-Merzbacher disease 703 Bullous pemphigoid 704 Pemphigus vulgaris 705 Pendred syndrome 707 Plague 708 Peters anomaly 709 Peters plus syndrome 710 Pfeiffer syndrome 712 Hemolytic anemia due to glucophosphate isomerase deficiency 713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 714 Hemolytic anemia due to diphosphoglycerate mutase deficiency 715 Glycogen storage disease due to muscle phosphorylase kinase deficiency 716 Phenylketonuria 718 Isolated Pierre Robin syndrome 720 Pili bifurcati 721 Gray platelet syndrome 722 Hypoplasminogenemia 723 Pneumocystosis 724 Idiopathic acute eosinophilic pneumonia 725 Continuous spikes and waves during sleep 726 Alpers-Huttenlocher syndrome 727 Microscopic polyangiitis 728 Relapsing polychondritis 729 Polycythemia vera 730 Autosomal dominant polycystic kidney disease 731 Autosomal recessive polycystic kidney disease 732 Polymyositis 733 Familial adenomatous polyposis 734 Alpha delta granule deficiency 735 Porokeratosis of Mibelli 737 Porokeratosis plantaris palmaris et disseminata 739 Prader-Willi syndrome 740 Hutchinson-Gilford progeria syndrome 741 Familial mitral valve prolapse 742 Prolidase deficiency 743 Severe hereditary thrombophilia due to congenital protein S deficiency 744 Proteus syndrome 745 Severe hereditary thrombophilia due to congenital protein C deficiency 746 Mitochondrial trifunctional protein deficiency 747 Autoimmune pulmonary alveolar proteinosis 749 Congenital prekallikrein deficiency 750 Pseudoachondroplasia 752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency 755 Leydig cell hypoplasia 756 Pseudohypoaldosteronism type 1 757 Pseudohypoaldosteronism type 2 758 Pseudoxanthoma elasticum 760 Purine nucleoside phosphorylase deficiency 761 Immunoglobulin A vasculitis 763 Pycnodysostosis 764 Pyomyositis 765 Pyruvate dehydrogenase deficiency 766 Hemolytic anemia due to red cell pyruvate kinase deficiency 767 Polyarteritis nodosa 769 Rabson-Mendenhall syndrome 770 Rabies 772 Infantile Refsum disease 773 Refsum disease 774 Hereditary hemorrhagic telangiectasia 776 Lujan-Fryns syndrome 777 X-linked non-syndromic intellectual disability 778 Rett syndrome 779 Reynolds syndrome 780 Rhabdomyosarcoma 781 Q fever 782 Axenfeld-Rieger syndrome 783 Rubinstein-Taybi syndrome 785 Estrogen resistance syndrome 786 Generalized glucocorticoid resistance syndrome 790 Retinoblastoma 791 Retinitis pigmentosa 792 X-linked retinoschisis 793 SAPHO syndrome 794 Saethre-Chotzen syndrome 796 Sandhoff disease 797 Sarcoidosis 798 Schinzel-Giedion syndrome 799 Schizencephaly 800 Schwartz-Jampel syndrome 803 Amyotrophic lateral sclerosis 805 Tuberous sclerosis complex 806 Scott syndrome 808 Seckel syndrome 809 Mixed connective tissue disease 810 Shigellosis 811 Shwachman-Diamond syndrome 812 Sialidosis type 1 813 Silver-Russell syndrome 816 Sjögren-Larsson syndrome 818 Smith-Lemli-Opitz syndrome 819 Smith-Magenis syndrome 820 Sneddon syndrome 821 Sotos syndrome 822 Hereditary spherocytosis 824 Primary myelofibrosis 826 Sporotrichosis 827 Stargardt disease 828 Stickler syndrome 829 Adult-onset Still disease 831 Congenital cervical spinal stenosis 832 Succinyl-CoA:3-oxoacid CoA transferase deficiency 833 Encephalopathy due to sulfite oxidase deficiency 834 Free sialic acid storage disease 838 Susac syndrome 839 Congenital nephrotic syndrome, Finnish type 840 Syringocystadenoma papilliferum 841 Sebocystomatosis 842 Testicular seminomatous germ cell tumor 844 Lown-Ganong-Levine syndrome 845 Tay-Sachs disease 846 Alpha-thalassemia 847 X-linked alpha-thalassemia-intellectual disability syndrome 848 Beta-thalassemia 849 Glanzmann thrombasthenia 851 Paris-Trousseau thrombocytopenia 852 X-linked thrombocytopenia with normal platelets 853 Fetal and neonatal alloimmune thrombocytopenia 854 Primitive portal vein thrombosis 857 Townes-Brocks syndrome 858 Congenital toxoplasmosis 859 Transcobalamin deficiency 860 Congenitally uncorrected transposition of the great arteries 861 Treacher-Collins syndrome 863 Trichinellosis 864 Trichofolliculoma 867 Familial multiple trichoepithelioma 868 Triose phosphate-isomerase deficiency 869 Triple A syndrome 870 Down syndrome 871 Familial progressive cardiac conduction defect 873 Desmoid tumor 874 Primary adult heart tumor 875 Primary pediatric heart tumor 876 Yolk sac tumor 879 Tungiasis 881 Turner syndrome 882 Tyrosinemia type 1 883 Extragonadal teratoma 884 Tetrasomy 12p 886 Usher syndrome 887 VACTERL/VATER association 888 Van der Woude syndrome 889 Cutaneous small vessel vasculitis 890 Hepatic veno-occlusive disease 891 Familial exudative vitreoretinopathy 892 Von Hippel-Lindau disease 893 WAGR syndrome 894 Waardenburg syndrome type 1 895 Waardenburg syndrome type 2 896 Waardenburg syndrome type 3 897 Waardenburg-Shah syndrome 898 Wagner disease 899 Walker-Warburg syndrome 900 Granulomatosis with polyangiitis 901 Wells syndrome 902 Werner syndrome 903 Von Willebrand disease 904 Williams syndrome 905 Wilson disease 906 Wiskott-Aldrich syndrome 908 Fragile X syndrome 909 Cerebrotendinous xanthomatosis 910 Xeroderma pigmentosum 911 Combined immunodeficiency due to ZAP70 deficiency 912 Zellweger syndrome 913 Zollinger-Ellison syndrome 915 Aarskog-Scott syndrome 916 Aase-Smith syndrome 920 Ablepharon macrostomia syndrome 921 Abruzzo-Erickson syndrome 922 Familial nasal acilia 926 Acatalasemia 927 Hyperammonemia due to N-acetylglutamate synthase deficiency 929 Achalasia-microcephaly syndrome 930 Idiopathic achalasia 931 Isolated acheiropodia 932 Achondrogenesis 935 Short-limb skeletal dysplasia with severe combined immunodeficiency 939 3-hydroxyisobutyric aciduria 941 D-glyceric aciduria 943 Malonic aciduria 945 Acalvaria 949 Acrocraniofacial dysostosis 950 Acrodysostosis 952 Acrofacial dysostosis, Weyers type 955 Hajdu-Cheney syndrome 957 Acropectorovertebral dysplasia 958 Acro-renal-mandibular syndrome 959 Acro-renal-ocular syndrome 963 Acromegaly 968 Acromesomelic dysplasia, Hunter-Thompson type 969 Acromicric dysplasia 970 Hereditary sensory and autonomic neuropathy type 2 971 Acrorenal syndrome 972 Hereditary continuous muscle fiber activity 973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral 974 Adams-Oliver syndrome 976 Adenine phosphoribosyltransferase deficiency 977 Adrenomyodystrophy 978 ADULT syndrome 980 Absence of the pulmonary artery 981 Internal carotid absence 983 Testicular regression syndrome 984 Pulmonary agenesis 988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome 989 Hypoglossia-hypodactyly syndrome 990 Agnathia-holoprosencephaly-situs inversus syndrome 991 PAGOD syndrome 994 Fetal akinesia deformation sequence 998 Albinism-deafness syndrome 999 Ermine phenotype 1000 Ocular albinism with late-onset sensorineural deafness 1001 2q37 microdeletion syndrome 1003 Scalp defects-postaxial polydactyly syndrome 1005 Alopecia-contractures-dwarfism-intellectual disability syndrome 1006 Alopecia antibody deficiency 1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome 1018 X-linked Alport syndrome-diffuse leiomyomatosis 1020 Early-onset autosomal dominant Alzheimer disease 1021 Amaurosis-hypertrichosis syndrome 1023 Congenital generalized hypertrichosis, Ambras type 1027 Autosomal recessive amelia 1028 Amelo-onycho-hypohidrotic syndrome 1031 Enamel-renal syndrome 1035 Beta-mercaptolactate cysteine disulfiduria 1040 Metaphyseal anadysplasia 1041 Hydrops fetalis 1046 Lethal hemolytic anemia-genital anomalies syndrome 1048 Isolated anencephaly/exencephaly 1051 Ramos-Arroyo syndrome 1052 Mosaic variegated aneuploidy syndrome 1053 Vein of Galen aneurysmal malformation 1054 Aneurysm of sinus of Valsalva 1055 Congenital left ventricular aneurysm 1059 Blue rubber bleb nevus 1062 Hereditary neurocutaneous malformation 1063 Tufted angioma 1064 Aniridia-renal agenesis-psychomotor retardation syndrome 1065 Aniridia-cerebellar ataxia-intellectual disability syndrome 1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome 1068 Aniridia-intellectual disability syndrome 1069 Aniridia-absent patella syndrome 1070 Anisakiasis 1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome 1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome 1077 Dental ankylosis 1078 Thumb stiffness-brachydactyly-intellectual disability syndrome 1083 Microlissencephaly 1084 Isolated lissencephaly type 1 without known genetic defects 1094 Anonychia-microcephaly syndrome 1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 1104 Anophthalmia plus syndrome 1106 Microphthalmia with limb anomalies 1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 1113 Aphalangy-syndactyly-microcephaly syndrome 1114 Aplasia cutis congenita 1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome 1117 Aplasia cutis-myopia syndrome 1118 Fibular aplasia-ectrodactyly syndrome 1120 Lung agenesis-heart defect-thumb anomalies syndrome 1121 Radial deficiency-tibial hypoplasia syndrome 1122 Ulnar hypoplasia-split foot syndrome 1123 Caudal appendage-deafness syndrome 1125 Ocular motor apraxia, Cogan type 1126 Aprosencephaly cerebellar dysgenesis 1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome 1130 Arachnodactyly-intellectual disability-dysmorphism syndrome 1131 X-linked mandibulofacial dysostosis 1133 AREDYLD syndrome 1134 Isolated arrhinia 1135 Arrhinia-choanal atresia-microphthalmia syndrome 1143 Neurogenic arthrogryposis multiplex congenita 1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome 1145 Infantile-onset X-linked spinal muscular atrophy 1146 Distal arthrogryposis type 1 1147 Sheldon-Hall syndrome 1149 Kuskokwim syndrome 1150 Arthrogryposis multiplex congenita-whistling face syndrome 1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome 1159 Progressive pseudorheumatoid arthropathy of childhood 1160 Chylous ascites 1163 Aspergillosis 1164 Allergic bronchopulmonary aspergillosis 1166 Congenital unilateral hypoplasia of depressor anguli oris 1168 Ataxia-oculomotor apraxia type 1 1170 Autosomal recessive cerebelloparenchymal disorder type 3 1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1173 Cerebellar ataxia-hypogonadism syndrome 1174 Cerebellar ataxia-ectodermal dysplasia syndrome 1175 X-linked progressive cerebellar ataxia 1177 Early-onset cerebellar ataxia with retained tendon reflexes 1178 Ataxia-tapetoretinal degeneration syndrome 1179 Benign paroxysmal tonic upgaze of childhood with ataxia 1180 Ataxia-hypogonadism-choroidal dystrophy syndrome 1182 Spastic ataxia with congenital miosis 1183 Opsoclonus-myoclonus syndrome 1184 Ataxia-photosensitivity-short stature syndrome 1185 Spinocerebellar ataxia-dysmorphism syndrome 1186 Infantile-onset spinocerebellar ataxia 1187 Lethal ataxia with deafness and optic atrophy 1188 Ataxia-deafness-intellectual disability syndrome 1190 Atelosteogenesis type I 1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 1193 Atkin-Flaitz syndrome 1194 TMEM70-related mitochondrial encephalo-cardio-myopathy 1195 Congenital atransferrinemia 1198 Colonic atresia 1199 Esophageal atresia 1200 Burn-McKeown syndrome 1201 Small bowel atresia 1202 Larynx atresia 1203 Duodenal atresia 1205 Mitral atresia 1207 Pulmonary atresia with ventricular septal defect 1208 Pulmonary atresia-intact ventricular septum syndrome 1209 Tricuspid atresia 1214 Progressive hemifacial atrophy 1215 Autosomal dominant optic atrophy plus syndrome 1216 Autosomal dominant congenital benign spinal muscular atrophy 1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome 1221 Cheilitis glandularis 1223 Balantidiasis 1225 Baller-Gerold syndrome 1226 Bamforth-Lazarus syndrome 1227 Bangstad syndrome 1228 Banki syndrome 1229 Congenital intrauterine infection-like syndrome 1231 Barber-Say syndrome 1234 Bartsocas-Papas syndrome 1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 1237 Beemer-Ertbruggen syndrome 1239 Behr syndrome 1241 Bencze syndrome 1243 Best vitelliform macular dystrophy 1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome 1247 Schistosomiasis 1248 Maxillonasal dysplasia 1252 Blepharonasofacial malformation syndrome 1253 Ascher syndrome 1259 Blepharoptosis-myopia-ectopia lentis syndrome 1261 Bonnemann-Meinecke-Reich syndrome 1262 Böök syndrome 1263 Boomerang dysplasia 1264 Tricho-retino-dento-digital syndrome 1267 Botulism 1270 Bowen-Conradi syndrome 1272 Aymé-Gripp syndrome 1275 Brachydactyly-elbow wrist dysplasia syndrome 1276 Brachydactyly-arterial hypertension syndrome 1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome 1278 Brachydactyly-preaxial hallux varus syndrome 1292 Brachymorphism-onychodysplasia-dysphalangism syndrome 1295 Brachytelephalangy-dysmorphism-Kallmann syndrome 1296 Lambert syndrome 1297 Branchio-oculo-facial syndrome 1299 Branchioskeletogenital syndrome 1300 Autosomal dominant popliteal pterygium syndrome 1302 Cryptogenic organizing pneumonia 1304 Brucellosis 1305 Feingold syndrome 1307 Distal limb deficiencies-micrognathia syndrome 1308 C syndrome 1309 Medullary sponge kidney 1310 Caffey disease 1313 Infantile choroidocerebral calcification syndrome 1314 Symmetrical thalamic calcifications 1318 Campomelia, Cumming type 1319 Camptobrachydactyly 1320 Idiopathic camptocormia 1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome 1323 Camptodactyly-joint contractures-facial skeletal defects syndrome 1325 Camptodactyly-taurinuria syndrome 1326 Camptodactyly syndrome, Guadalajara type 2 1327 Camptodactyly syndrome, Guadalajara type 1 1328 Camurati-Engelmann disease 1329 Complete atrioventricular septal defect 1330 Partial atrioventricular septal defect 1331 Familial prostate cancer 1332 Medullary thyroid carcinoma 1333 Familial pancreatic carcinoma 1334 Chronic mucocutaneous candidiasis 1335 Pentalogy of Cantrell 1336 Hyperkeratosis-hyperpigmentation syndrome 1338 Heart defect-tongue hamartoma-polysyndactyly syndrome 1340 Cardiofaciocutaneous syndrome 1342 Heart-hand syndrome type 3 1344 Atrial standstill 1345 Cardiomyopathy-cataract-hip spine disease syndrome 1349 Mitochondrial DNA-related cardiomyopathy and hearing loss 1350 Heart-hand syndrome type 2 1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 1354 Heart defects-limb shortening syndrome 1355 Congenital heart defect-round face-developmental delay syndrome 1358 Carey-Fineman-Ziter syndrome 1359 Carney complex 1361 Carnosinase deficiency 1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia 1368 Cataract-ataxia-deafness syndrome 1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 1373 Cataract-aberrant oral frenula-growth delay syndrome 1375 Cataract-hypertrichosis-intellectual disability syndrome 1377 Cataract-microcornea syndrome 1380 Cataract-nephropathy-encephalopathy syndrome 1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome 1383 Cataract-deafness-hypogonadism syndrome 1387 Cataract-intellectual disability-hypogonadism syndrome 1388 Catel-Manzke syndrome 1389 Cortical blindness-intellectual disability-polydactyly syndrome 1390 Night blindness-skeletal anomalies-dysmorphism syndrome 1393 Cerebrocostomandibular syndrome 1394 Cerebrofaciothoracic dysplasia 1397 Hydrocephaly-cerebellar agenesis syndrome 1398 Isolated cerebellar agenesis 1399 Richards-Rundle syndrome 1401 CHAND syndrome 1406 Charlie M syndrome 1410 Uncombable hair syndrome 1412 Tarsal-carpal coalition syndrome 1414 Cholestasis-lymphedema syndrome 1415 Hardikar syndrome 1416 Familial calcium pyrophosphate deposition 1422 Chondrodysplasia-difference of sex development syndrome 1423 Lethal recessive chondrodysplasia 1425 Desbuquois syndrome 1426 Greenberg dysplasia 1427 Otospondylomegaepiphyseal dysplasia 1429 Benign hereditary chorea 1433 Choroidal atrophy-alopecia syndrome 1435 Xq21 microdeletion syndrome 1436 X-linked skeletal dysplasia-intellectual disability syndrome 1437 Ring chromosome 1 syndrome 1438 Ring chromosome 10 syndrome 1439 Ring chromosome 12 syndrome 1440 Ring chromosome 14 syndrome 1441 Ring chromosome 17 syndrome 1442 Ring chromosome 18 syndrome 1443 Ring chromosome 19 syndrome 1444 Ring chromosome 20 syndrome 1445 Ring chromosome 21 syndrome 1446 Ring chromosome 22 syndrome 1447 Ring chromosome 4 syndrome 1448 Ring chromosome 6 syndrome 1449 Ring chromosome 7 syndrome 1450 Ring chromosome 8 syndrome 1451 CINCA syndrome 1452 Cleidocranial dysplasia 1453 Cleidorhizomelic syndrome 1454 Joubert syndrome with hepatic defect 1456 Middle aortic syndrome 1457 Aorta coarctation 1458 CODAS syndrome 1459 Celiac disease-epilepsy-cerebral calcification syndrome 1460 Isolated complex III deficiency 1461 Criss-cross heart 1464 Univentricular heart 1465 Coffin-Siris syndrome 1466 COFS syndrome 1467 Cogan syndrome 1471 Coloboma of macula-brachydactyly type B syndrome 1473 Uveal coloboma-cleft lip and palate-intellectual disability 1475 Renal coloboma syndrome 1478 Interatrial communication 1479 Atrial septal defect-atrioventricular conduction defects syndrome 1482 Gonococcal conjunctivitis 1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome 1485 Arthrogryposis-hyperkeratosis syndrome, lethal form 1486 Lethal congenital contracture syndrome type 1 1487 Cooks syndrome 1488 Cooper-Jabs syndrome 1489 Whooping cough 1490 Corneal dystrophy-perceptive deafness syndrome 1493 Vici syndrome 1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 1496 Corpus callosum agenesis-neuronopathy syndrome 1497 X-linked complicated corpus callosum dysgenesis 1501 Adrenocortical carcinoma 1506 Thin ribs-tubular bones-dysmorphism syndrome 1507 Autosomal recessive Robinow syndrome 1508 Coxoauricular syndrome 1509 Coxopodopatellar syndrome 1512 Crane-Heise syndrome 1513 Craniodiaphyseal dysplasia 1514 Craniodigital-intellectual disability syndrome 1515 Cranioectodermal dysplasia 1516 Non-syndromic bilambdoid and sagittal craniosynostosis 1517 Cantú syndrome 1519 SPECC1L-related hypertelorism syndrome 1520 Craniofrontonasal dysplasia 1521 Craniofrontonasal dysplasia-Poland anomaly syndrome 1522 Craniometaphyseal dysplasia 1524 Craniomicromelic syndrome 1525 Cranio-osteoarthropathy 1527 Craniosynostosis, Philadelphia type 1528 Craniotelencephalic dysplasia 1529 Craniofacial-deafness-hand syndrome 1532 Gómez-López-Hernández syndrome 1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 1540 Jackson-Weiss syndrome 1541 Craniosynostosis, Boston type 1544 Benign focal seizures of adolescence 1545 Crisponi syndrome 1546 Cryptococcosis 1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome 1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome 1551 Familial benign copper deficiency 1552 Currarino syndrome 1553 Curry-Jones syndrome 1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome 1556 Cutis marmorata telangiectatica congenita 1560 Cysticercosis 1561 Fatal infantile cytochrome C oxidase deficiency 1563 Dahlberg-Borer-Newcomer syndrome 1566 Dandy-Walker malformation-postaxial polydactyly syndrome 1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome 1570 Symbrachydactyly of hands and feet 1571 Knobloch syndrome 1572 Common variable immunodeficiency 1573 Hypotrichosis with juvenile macular degeneration 1574 Retinal degeneration-nanophthalmos-glaucoma syndrome 1578 Pterin-4 alpha-carbinolamine dehydratase deficiency 1580 Distal deletion 10p 1581 Non-distal deletion 10q 1587 Monosomy 13q14 1590 Distal deletion 13q 1596 Distal deletion 15q 1597 Distal deletion 17q 1598 Monosomy 18p 1600 Monosomy 18q 1606 1p36 deletion syndrome 1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion 1620 Distal deletion 3p 1621 3q13 microdeletion syndrome 1627 Deletion 5q35 1636 Distal monosomy 7q36 1642 Distal deletion 9p 1643 Xp22.3 microdeletion syndrome 1646 Chromosome Y microdeletion 1647 Oculocerebrocutaneous syndrome 1652 Dent disease 1653 Dentin dysplasia 1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome 1656 Dermatitis herpetiformis 1657 Dermatoosteolysis, Kirghizian type 1658 Absence of fingerprints-congenital milia syndrome 1659 Dermatoleukodystrophy 1660 Dermoodontodysplasia 1661 X-linked corneal dermoid 1662 Restrictive dermopathy 1665 Sporadic fetal brain disruption sequence 1666 Dextrocardia 1667 Wolcott-Rallison syndrome 1670 Chronic diarrhea with villous atrophy 1671 Split cord malformation type I 1672 Diencephalic syndrome 1675 Dihydropyrimidine dehydrogenase deficiency 1676 Idiopathic pulmonary artery dilatation 1677 Familial idiopathic dilatation of the right atrium 1679 Diphtheria 1681 Diprosopus 1682 Arterial dissection-lentiginosis syndrome 1686 Cardiac diverticulum 1692 Mosaic trisomy 1 1695 Non-distal duplication 10q 1698 Mosaic trisomy 12 1699 Trisomy 12p 1702 Non-distal duplication 13q 1703 Mosaic trisomy 14 1705 Distal duplication 14q 1706 Mosaic trisomy 15 1707 Distal duplication 15q 1708 Mosaic trisomy 16 1711 Mosaic trisomy 17 1713 17p11.2 microduplication syndrome 1715 Trisomy 18p 1716 Distal duplication 18q 1717 Distal duplication 19q 1723 Mosaic trisomy 2 1724 Mosaic trisomy 20 1727 22q11.2 duplication syndrome 1738 Trisomy 4p 1742 Trisomy 5p 1745 Distal duplication 6p 1747 Mosaic trisomy 7 1752 Trisomy 8q 1756 Caudal duplication 1757 Fibular dimelia-diplopodia syndrome 1759 Thoraco-abdominal enteric duplication 1762 Proximal Xq28 duplication syndrome 1764 Familial dysautonomia 1766 Dysequilibrium syndrome 1768 Familial caudal dysgenesis 1770 XY type gonadal dysgenesis-associated anomalies syndrome 1772 45,X/46,XY mixed gonadal dysgenesis 1775 Dyskeratosis congenita 1777 Temtamy syndrome 1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome 1779 Dysmorphism-cleft palate-loose skin syndrome 1780 Thakker-Donnai syndrome 1782 Dysosteosclerosis 1784 Acrofrontofacionasal dysostosis 1786 Acrofacial dysostosis, Catania type 1787 Acrofacial dysostosis, Palagonia type 1788 Acrofacial dysostosis, Rodríguez type 1790 Hypomandibular faciocranial dysostosis 1791 Frontofacionasal dysplasia 1794 Oculomaxillofacial dysostosis 1797 Autosomal dominant spondylocostal dysostosis 1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome 1799 Familial developmental dysphasia 1801 Kyphomelic dysplasia 1802 Ghosal hematodiaphyseal dysplasia 1803 Thoracomelic dysplasia 1806 Ectodermal dysplasia-blindness syndrome 1807 Focal facial dermal dysplasia type III 1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type 1809 Hidrotic ectodermal dysplasia, Halal type 1810 Autosomal dominant hypohidrotic ectodermal dysplasia 1811 Odontomicronychial dysplasia 1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 1818 Ectodermal dysplasia, trichoodontoonychial type 1822 Dysplasia epiphysealis hemimelica 1824 Lowry-Wood syndrome 1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 1826 Frontometaphyseal dysplasia 1827 Acromelic frontonasal dysplasia 1830 Schimke immuno-osseous dysplasia 1832 Osteosclerotic bone dysplasia 1834 Axial mesodermal dysplasia spectrum 1836 Mesomelic dysplasia, Kantaputra type 1837 Metaphyseal chondrodysplasia, Rosenberg type 1839 Hereditary mucoepithelial dysplasia 1842 Bone dysplasia, lethal Holmgren type 1848 Renal agenesis, bilateral 1851 Multicystic dysplastic kidney 1852 X-linked retinal dysplasia 1855 Spondyloenchondrodysplasia 1856 Spondyloperipheral dysplasia-short ulna syndrome 1858 Skeletal dysplasia-epilepsy-short stature syndrome 1860 Thanatophoric dysplasia type 1 1861 Thoracic dysplasia-hydrocephalus syndrome 1865 Dyssegmental dysplasia, Silverman-Handmaker type 1867 Hereditary bullous dystrophy, macular type 1871 Progressive cone dystrophy 1872 Cone rod dystrophy 1873 Jalili syndrome 1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome 1876 Oculogastrointestinal muscular dystrophy 1878 TRIM32-related limb-girdle muscular dystrophy R8 1879 Melorheostosis with osteopoikilosis 1880 Ebstein malformation of the tricuspid valve 1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 1883 Ectodermal dysplasia-sensorineural deafness syndrome 1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome 1885 Isolated ectopia lentis 1891 Intellectual disability-spasticity-ectrodactyly syndrome 1892 Ectrodactyly-polydactyly syndrome 1895 Edinburgh malformation syndrome 1896 EEC syndrome 1897 EEM syndrome 1899 Arthrochalasia Ehlers-Danlos syndrome 1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency 1901 Dermatosparaxis Ehlers-Danlos syndrome 1902 Ehrlichiosis 1906 Fetal valproate spectrum disorder 1908 Aminopterin/methotrexate embryofetopathy 1909 Indomethacin embryofetopathy 1910 Fetal iodine syndrome 1911 Cocaine embryofetopathy 1912 Fetal hydantoin syndrome 1913 Fetal trimethadione syndrome 1914 Vitamin K antagonist embryofetopathy 1915 Fetal alcohol syndrome 1916 Diethylstilbestrol syndrome 1917 Fetal methylmercury syndrome 1918 Fetal minoxidil syndrome 1919 Phenobarbital embryopathy 1920 Toluene embryopathy 1923 Methimazole embryofetopathy 1926 Diabetic embryopathy 1927 Emery-Nelson syndrome 1928 Congenital lobar emphysema 1929 Rasmussen subacute encephalitis 1930 Herpes simplex virus encephalitis 1931 Frontal encephalocele 1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 1934 Early infantile epileptic encephalopathy 1935 Early myoclonic encephalopathy 1937 Eng-Strom syndrome 1941 Juvenile absence epilepsy 1942 Myoclonic-astatic epilepsy 1943 Early-onset progressive encephalopathy with migrant continuous myoclonus 1945 Rolandic epilepsy 1946 Amelocerebrohypohidrotic syndrome 1947 Progressive epilepsy-intellectual disability syndrome, Finnish type 1948 Epilepsy-microcephaly-skeletal dysplasia syndrome 1949 Benign familial neonatal epilepsy 1951 Epilepsy-telangiectasia syndrome 1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome 1954 Congenital lethal erythroderma 1955 Spinocerebellar ataxia type 34 1957 Esthesioneuroblastoma 1959 Evans syndrome 1962 Exostoses-anetodermia-brachydactyly type E syndrome 1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome 1968 Flat face-microstomia-ear anomaly syndrome 1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 1972 Lethal faciocardiomelic dysplasia 1973 Faciocardiorenal syndrome 1974 Autosomal recessive faciodigitogenital syndrome 1979 Lipodystrophy due to peptidic growth factors deficiency 1980 Bilateral striopallidodentate calcinosis 1986 Gollop-Wolfgang complex 1987 Isolated femoral agenesis/hypoplasia 1988 Femoral-facial syndrome 1993 Pai syndrome 1995 Cleft lip-retinopathy syndrome 1997 Blepharo-cheilo-odontic syndrome 2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome 2003 Cleft lip/palate-deafness-sacral lipoma syndrome 2004 Laryngotracheoesophageal cleft 2006 Median cleft lip/mandible 2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome 2008 Acrocardiofacial syndrome 2010 Cleft palate-stapes fixation-oligodontia syndrome 2013 Cleft palate-large ears-small head syndrome 2015 Cleft palate-short stature-vertebral anomalies syndrome 2016 Cleft palate-lateral synechia syndrome 2017 Sternal cleft 2019 Femur-fibula-ulna complex 2020 Congenital fiber-type disproportion myopathy 2021 Fibrochondrogenesis 2022 Endocardial fibroelastosis 2023 Undifferentiated pleomorphic sarcoma 2024 Hereditary gingival fibromatosis 2025 Gingival fibromatosis-facial dysmorphism syndrome 2026 Gingival fibromatosis-hypertrichosis syndrome 2027 Gingival fibromatosis-progressive deafness syndrome 2028 Juvenile hyaline fibromatosis 2030 Fibrosarcoma 2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome 2032 Idiopathic pulmonary fibrosis 2035 Lymphatic filariasis 2036 Scalp-ear-nipple syndrome 2037 Congenital aortopulmonary window 2038 Pulmonary arteriovenous malformation 2039 Congenital systemic arteriovenous fistula 2040 Congenital respiratory-biliary fistula 2041 Coronary arterial fistula 2044 Floating-Harbor syndrome 2045 FLOTCH syndrome 2047 Flynn-Aird syndrome 2048 Foix-Chavany-Marie syndrome 2050 Cole-Carpenter syndrome 2052 Fraser syndrome 2053 Freeman-Sheldon syndrome 2056 Essential fructosuria 2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 2058 Fryns-Smeets-Thiry syndrome 2059 Fryns syndrome 2062 Progressive non-infectious anterior vertebral fusion 2063 Splenogonadal fusion-limb defects-micrognathia syndrome 2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 2065 Galloway-Mowat syndrome 2066 Gamma-aminobutyric acid transaminase deficiency 2067 GAPO syndrome 2069 Gastrocutaneous syndrome 2070 Eosinophilic gastroenteritis 2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 2073 Narcolepsy type 1 2074 Gemignani syndrome 2075 Genitopalatocardiac syndrome 2077 German syndrome 2078 Geroderma osteodysplastica 2083 Prominent glabella-microcephaly-hypogenitalism syndrome 2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome 2085 Glaucoma-sleep apnea syndrome 2086 Optic pathway glioma 2088 Fanconi-Bickel syndrome 2089 Glycogen storage disease due to hepatic glycogen synthase deficiency 2090 GMS syndrome 2091 Multinodular goiter-cystic kidney-polydactyly syndrome 2092 Focal dermal hypoplasia 2095 Gorlin-Chaudhry-Moss syndrome 2097 Grant syndrome 2098 Acromesomelic dysplasia, Grebe type 2101 Grubben-de Cock-Borghgraef syndrome 2102 GTP cyclohydrolase I deficiency 2104 Dysmorphism-pectus carinatum-joint laxity syndrome 2107 Hall-Riggs syndrome 2108 Hallermann-Streiff syndrome 2109 Hallermann-Streiff-like syndrome 2110 Hallux varus-preaxial polysyndactyly syndrome 2111 Cystic hamartoma of lung and kidney 2114 Hip dysplasia, Beukes type 2115 Harrod syndrome 2116 Hartnup disease 2117 Hartsfield syndrome 2118 Hawkinsinuria 2119 HEC syndrome 2122 Kaposiform hemangioendothelioma 2123 Multifocal infantile hemangioma with extracutenous involvement 2126 Solitary fibrous tumor 2128 Isolated hemihyperplasia 2131 Alternating hemiplegia of childhood 2132 Hemoglobin C disease 2133 Hemoglobin E disease 2134 Atypical hemolytic uremic syndrome 2135 Hennekam-Beemer syndrome 2136 Hennekam syndrome 2137 Autoimmune hepatitis 2138 46,XX ovotesticular difference of sex development 2139 Hernández-Aguirre Negrete syndrome 2140 Congenital diaphragmatic hernia 2141 Diaphragmatic defect-limb deficiency-skull defect syndrome 2143 Donnai-Barrow syndrome 2145 Craniosynostosis, Herrmann-Opitz type 2148 Lissencephaly type 1 due to doublecortin gene mutation 2149 Nodular neuronal heterotopia 2150 Hirschsprung disease-type D brachydactyly syndrome 2151 Hirschsprung disease-ganglioneuroblastoma syndrome 2152 Mowat-Wilson syndrome 2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 2155 Hirschsprung disease-deafness-polydactyly syndrome 2157 Histidinemia 2158 Histidinuria-renal tubular defect syndrome 2162 Holoprosencephaly 2163 Holoprosencephaly-craniosynostosis syndrome 2165 Holoprosencephaly-caudal dysgenesis syndrome 2166 Holoprosencephaly-postaxial polydactyly syndrome 2167 Holzgreve syndrome 2169 Methylcobalamin deficiency type cblE 2170 Methylcobalamin deficiency type cblG 2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome 2176 Infantile systemic hyalinosis 2177 Hydranencephaly 2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 2181 Hydrocephaly-tall stature-joint laxity syndrome 2182 Hydrocephalus with stenosis of the aqueduct of Sylvius 2183 Hydrocephalus-obesity-hypogonadism syndrome 2184 Hydrocephaly-low insertion umbilicus syndrome 2185 Congenital hydrocephalus 2186 Hydrocephalus-blue sclerae-nephropathy syndrome 2189 Hydrolethalus 2195 Dicarboxylic aminoaciduria 2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement 2197 Idiopathic hypercalciuria 2198 Palmoplantar keratoderma-esophageal carcinoma syndrome 2199 Epidermolytic palmoplantar keratoderma 2200 Focal palmoplantar and gingival keratoderma 2201 Palmoplantar keratoderma-spastic paralysis syndrome 2202 Palmoplantar keratoderma-deafness syndrome 2203 Hyperlysinemia 2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type 2206 Ankylosing vertebral hyperostosis with tylosis 2209 Maternal phenylketonuria 2211 Hypertelorism-hypospadias-polysyndactyly syndrome 2213 Hypertelorism-microtia-facial clefting syndrome 2215 Multiple pterygium-malignant hyperthermia syndrome 2216 Maternal hyperthermia-induced birth defects 2218 Cervical hypertrichosis-peripheral neuropathy syndrome 2220 Hypertrichosis cubiti 2221 Acquired hypertrichosis lanuginosa 2222 Hypertrichosis lanuginosa congenita 2224 Hypertryptophanemia 2228 Hypodontia-dysplasia of nails syndrome 2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome 2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome 2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome 2238 Familial isolated hypoparathyroidism 2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland 2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome 2248 Hypoplastic left heart syndrome 2249 Ulna hypoplasia-intellectual disability syndrome 2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome 2251 Thumb deformity-alopecia-pigmentation anomaly syndrome 2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 2253 Foveal hypoplasia-presenile cataract syndrome 2254 Pontocerebellar hypoplasia type 1 2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome 2257 Primary pulmonary hypoplasia 2260 Oligomeganephronia 2261 Hypospadias-intellectual disability, Goldblatt type syndrome 2266 Hypotrichosis-intellectual disability, Lopes type 2268 ICF syndrome 2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome 2272 Ichthyosis-oral and digital anomalies syndrome 2273 Ichthyosis follicularis-alopecia-photophobia syndrome 2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 2282 Dysmorphism-short stature-deafness-difference of sex development syndrome 2285 Primary basilar invagination 2287 Fused mandibular incisors 2289 Neuronal intranuclear inclusion disease 2290 Microvillus inclusion disease 2291 Congenital velopharyngeal incompetence 2295 Familial articular hypermobility syndrome 2297 Insulin-resistance syndrome type A 2298 Insulin-resistance syndrome type B 2299 Aortic arch interruption 2300 Multiple intestinal atresia 2301 Congenital short bowel syndrome 2302 Asbestos intoxication 2305 Isotretinoin syndrome 2306 Isotretinoin-like syndrome 2307 IVIC syndrome 2308 Jacobsen syndrome 2309 Pachyonychia congenita 2310 Absence deformity of leg-cataract syndrome 2311 Autosomal recessive spondylocostal dysostosis 2312 Transient familial neonatal hyperbilirubinemia 2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 2315 Johanson-Blizzard syndrome 2316 Johnson neuroectodermal syndrome 2318 Joubert syndrome with oculorenal defect 2319 Juberg-Hayward syndrome 2321 Jung syndrome 2322 Kabuki syndrome 2323 Sanjad-Sakati syndrome 2324 Osteopenia-intellectual disability-sparse hair syndrome 2325 Epidermolysis bullosa simplex with anodontia/hypodontia 2326 Kallmann syndrome-heart disease syndrome 2328 Kapur-Toriello syndrome 2329 Karsch-Neugebauer syndrome 2330 Kasabach-Merritt phenomenon 2331 Kawasaki disease 2332 KBG syndrome 2333 Kenny-Caffey syndrome 2334 Autosomal dominant keratitis 2337 Diffuse palmoplantar keratoderma, Bothnian type 2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome 2340 Keratosis follicularis spinulosa decalvans 2342 Haim-Munk syndrome 2345 Isolated Klippel-Feil syndrome 2347 Lethal Kniest-like dysplasia 2348 Familial partial lipodystrophy, Dunnigan type 2349 Muscular pseudohypertrophy-hypothyroidism syndrome 2351 Kousseff syndrome 2353 Schilbach-Rott syndrome 2356 Arachnoid cyst 2357 Bronchogenic cyst 2363 Lacrimoauriculodentodigital syndrome 2364 Glycogen storage disease due to lactate dehydrogenase deficiency 2368 Gastroschisis 2369 Limb body wall complex 2370 Larsen-like osseous dysplasia-short stature syndrome 2371 Lethal Larsen-like syndrome 2372 Laryngocele 2373 Congenital laryngomalacia 2374 Isolated congenital laryngeal web 2375 Laryngeal abductor paralysis-intellectual disability syndrome 2377 Laurence-Moon syndrome 2378 Laurin-Sandrow syndrome 2379 Early-onset parkinsonism-intellectual disability syndrome 2380 Legg-Calvé-Perthes disease 2382 Lennox-Gastaut syndrome 2386 Leukoencephalopathy-palmoplantar keratoderma syndrome 2387 Leukonychia totalis 2388 Choreoacanthocytosis 2390 Lichtenstein syndrome 2391 Congenitally short costocoracoid ligament 2394 Pyruvate dehydrogenase E3 deficiency 2396 Encephalocraniocutaneous lipomatosis 2398 Multiple symmetric lipomatosis 2399 Nasopalpebral lipoma-coloboma syndrome 2400 Peripheral motor neuropathy-dysautonomia syndrome 2404 Loiasis 2405 Thickened earlobes-conductive deafness syndrome 2406 Locked-in syndrome 2407 Laryngo-onycho-cutaneous syndrome 2408 Lowe-Kohn-Cohen syndrome 2409 Lowry-MacLean syndrome 2410 Hypergonadotropic hypogonadism-cataract syndrome 2412 Dislocation of the hip-dysmorphism syndrome 2414 Congenital pulmonary lymphangiectasia 2420 Primary pulmonary lymphoma 2427 Macrocephaly-short stature-paraplegia syndrome 2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome 2430 Congenital macroglossia 2432 Macrosomia-microphthalmia-cleft palate syndrome 2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome 2437 Czeizel-Losonci syndrome 2438 Hand-foot-genital syndrome 2439 Patterson-Stevenson-Fontaine syndrome 2440 Isolated split hand-split foot malformation 2444 Congenital pulmonary airway malformation 2451 Mucocutaneous venous malformations 2456 Familial supernumerary nipples 2457 Mandibuloacral dysplasia 2459 Mansonelliasis 2460 Van den Ende-Gupta syndrome 2461 Marden-Walker syndrome 2462 Shprintzen-Goldberg syndrome 2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome 2464 Marfanoid syndrome, De Silva type 2466 MASA syndrome 2470 Matthew-Wood syndrome 2471 McDonough syndrome 2473 McKusick-Kaufman syndrome 2475 White forelock with malformations 2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome 2477 Megalencephaly 2478 Megalencephalic leukoencephalopathy with subcortical cysts 2479 Megalocornea-intellectual disability syndrome 2481 Neurocutaneous melanocytosis 2482 Melhem-Fahl syndrome 2483 Melkersson-Rosenthal syndrome 2484 Melnick-Needles syndrome 2485 Melorheostosis 2487 Lower limb malformation-hypospadias syndrome 2489 Upper limb defect-eye and ear abnormalities syndrome 2491 Müllerian duct anomalies-limb anomalies syndrome 2492 FATCO syndrome 2494 Ménétrier disease 2495 Meningioma 2496 Mesomelia-synostoses syndrome 2497 Upper limb mesomelic dysplasia, type Fryns 2498 Syndactyly type 8 2499 Metachondromatosis 2500 Acrogeria 2501 Metaphyseal chondrodysplasia, Spahr type 2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2505 Multiple benign circumferential skin creases on limbs 2508 Corpus callosum agenesis-abnormal genitalia syndrome 2510 Micro syndrome 2511 Microbrachycephaly-ptosis-cleft lip syndrome 2512 Autosomal recessive primary microcephaly 2513 Microcephaly-albinism-digital anomalies syndrome 2514 Autosomal dominant primary microcephaly 2515 Microcephaly-cardiomyopathy syndrome 2516 Microcephaly-cardiac defect-lung malsegmentation syndrome 2518 Autosomal recessive chorioretinopathy-microcephaly syndrome 2519 Microcephaly-seizures-intellectual disability-heart disease syndrome 2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome 2522 Microcephaly-cervical spine fusion anomalies syndrome 2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome 2524 Pontocerebellar hypoplasia type 2 2526 Microcephaly-lymphedema-chorioretinopathy syndrome 2528 Microcephaly-microcornea syndrome, Seemanova type 2533 Microcephaly-deafness-intellectual disability syndrome 2536 Microcornea-glaucoma-absent frontal sinuses syndrome 2538 Microgastria-limb reduction defect syndrome 2547 Microphthalmia-microtia-fetal akinesia syndrome 2549 Oculoauriculovertebral spectrum with radial defects 2551 Microspherophakia-metaphyseal dysplasia syndrome 2552 Microsporidiosis 2554 Ear-patella-short stature syndrome 2556 Microphthalmia with linear skin defects syndrome 2557 Mietens syndrome 2558 Mikati-Najjar-Sahli syndrome 2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 2561 Pyramidal molars-abnormal upper lip syndrome 2563 MOMO syndrome 2564 Tetramelic monodactyly 2565 Mononen-Karnes-Senac syndrome 2566 Chronic Epstein-Barr virus infection syndrome 2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome 2571 X-linked immunoneurologic disorder 2572 Spastic ataxia-corneal dystrophy syndrome 2573 Moyamoya disease 2574 Moynahan syndrome 2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome 2576 Mulibrey nanism 2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 2582 Myalgia-eosinophilia syndrome associated with tryptophan 2583 Mycetoma 2584 Classic mycosis fungoides 2585 Ataxia-pancytopenia syndrome 2587 Myeloperoxidase deficiency 2588 Myhre syndrome 2589 Myoclonus-cerebellar ataxia-deafness syndrome 2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2591 Infantile myofibromatosis 2593 Tubular aggregate myopathy 2596 Myopathy and diabetes mellitus 2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome 2598 Mitochondrial myopathy and sideroblastic anemia 2604 Familial visceral myopathy 2608 N syndrome 2609 Isolated complex I deficiency 2611 Linear verrucous nevus syndrome 2612 Linear nevus sebaceus syndrome 2613 Nail-patella-like renal disease 2614 Nail-patella syndrome 2616 3M syndrome 2617 Microcephalic primordial dwarfism, Montreal type 2619 Brachydactylous dwarfism, Mseleni type 2623 Geleophysic dysplasia 2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome 2632 Langer mesomelic dysplasia 2633 Mesomelic dysplasia, Nievergelt type 2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type 2635 Metatropic dysplasia 2636 Microcephalic osteodysplastic primordial dwarfism types I and III 2637 Microcephalic osteodysplastic primordial dwarfism type II 2639 Fibular aplasia-complex brachydactyly syndrome 2643 Microcephalic primordial dwarfism, Toriello type 2645 Osteoglosphonic dysplasia 2655 Thanatophoric dysplasia 2658 Lenz-Majewski hyperostotic dwarfism 2662 Keipert syndrome 2663 Nathalie syndrome 2665 Congenital mesoblastic nephroma 2666 Adult familial nephronophthisis-spastic quadriparesia syndrome 2668 Nephropathy-deafness-hyperparathyroidism syndrome 2669 Nephrosis-deafness-urinary tract-digital malformations syndrome 2670 Pierson syndrome 2671 Neu-Laxova syndrome 2672 Neuhauser-Eichner-Opitz syndrome 2673 Neurofaciodigitorenal syndrome 2674 Cyprus facial-neuromusculoskeletal syndrome 2678 Familial isolated café-au-lait macules 2680 Hypomyelination neuropathy-arthrogryposis syndrome 2686 Cyclic neutropenia 2688 Adult idiopathic neutropenia 2690 Neutropenia-monocytopenia-deafness syndrome 2695 Bifid nose 2697 Arthrogryposis-renal dysfunction-cholestasis syndrome 2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 2699 Median nodule of the upper lip 2700 Noma 2701 Noonan syndrome-like disorder with loose anagen hair 2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome 2704 Urofacial syndrome 2707 Oculocerebrofacial syndrome, Kaufman type 2709 Oculodental syndrome, Rutherfurd type 2710 Oculodentodigital dysplasia 2712 Oculofaciocardiodental syndrome 2713 Oculoosteocutaneous syndrome 2714 Oculo-palato-cerebral syndrome 2715 Severe oculo-renal-cerebellar syndrome 2717 Oculotrichoanal syndrome 2718 Oculotrichodysplasia 2719 Oculocerebral hypopigmentation syndrome, Cross type 2720 Oculocerebral hypopigmentation syndrome, Preus type 2721 Odonto-onycho-dermal dysplasia 2722 Odonto-onycho dysplasia-alopecia syndrome 2723 Odontotrichomelic syndrome 2724 Odontomatosis-aortae esophagus stenosis syndrome 2728 Blepharophimosis-intellectual disability syndrome, Ohdo type 2730 Postaxial tetramelic oligodactyly 2732 Olivopontocerebellar atrophy-deafness syndrome 2733 Omodysplasia 2736 Lethal omphalocele-cleft palate syndrome 2737 Onchocerciasis 2741 Ophthalmomandibulomelic dysplasia 2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 2744 Horizontal gaze palsy with progressive scoliosis 2745 Opitz GBBB syndrome 2746 Opsismodysplasia 2750 Orofaciodigital syndrome type 1 2751 Orofaciodigital syndrome type 2 2753 Orofaciodigital syndrome type 4 2754 Orofaciodigital syndrome type 6 2755 Orofaciodigital syndrome type 8 2759 Imperforate oropharynx-costovertebral anomalies syndrome 2760 OSLAM syndrome 2762 Progressive osseous heteroplasia 2763 Osteocraniostenosis 2764 Osteochondritis dissecans 2767 Carpotarsal osteochondromatosis 2768 Blount disease 2769 Familial osteodysplasia, Anderson type 2770 Nasu-Hakola disease 2771 Bruck syndrome 2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 2774 Multicentric carpo-tarsal osteolysis with or without nephropathy 2776 Autosomal recessive distal osteolysis syndrome 2777 Osteomesopyknosis 2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome 2780 Osteopathia striata-cranial sclerosis syndrome 2783 Autosomal dominant osteopetrosis type 1 2785 Osteopetrosis with renal tubular acidosis 2786 Osteoporosis-oculocutaneous hypopigmentation syndrome 2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 2788 Osteoporosis-pseudoglioma syndrome 2789 Lateral meningocele syndrome 2790 Endosteal hyperostosis, Worth type 2791 Otodental syndrome 2792 Otofaciocervical syndrome 2793 Otoonychoperoneal syndrome 2795 Fowler urethral sphincter dysfunction syndrome 2796 Pachydermoperiostosis 2798 Pachygyria-intellectual disability-epilepsy syndrome 2800 Extramammary Paget disease 2801 Juvenile Paget disease 2802 X-linked sideroblastic anemia and spinocerebellar ataxia 2804 W syndrome 2805 Partial pancreatic agenesis 2806 Subacute sclerosing leukoencephalitis 2807 Papilloma of choroid plexus 2808 Laryngeal abductor paralysis 2809 Familial recurrent peripheral facial palsy 2812 Parana hard skin syndrome 2815 Spastic paraparesis-deafness syndrome 2818 Spastic paraplegia-glaucoma-intellectual disability syndrome 2819 Spastic paraplegia-facial-cutaneous lesions syndrome 2820 Spastic paraplegia-nephritis-deafness syndrome 2821 Spastic paraplegia-neuropathy-poikiloderma syndrome 2822 Autosomal recessive spastic paraplegia type 11 2824 Paraplegia-intellectual disability-hyperkeratosis syndrome 2825 PARC syndrome 2826 Spastic paraplegia-precocious puberty syndrome 2828 Young-onset Parkinson disease 2831 Rhizomelic dysplasia, Patterson-Lowry type 2832 Short tarsus-absence of lower eyelashes syndrome 2833 Stiff skin syndrome 2834 Wrinkly skin syndrome 2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome 2836 PEHO syndrome 2838 Renal caliceal diverticuli-deafness syndrome 2839 Pelvis-shoulder dysplasia 2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome 2841 Hailey-Hailey disease 2842 Penoscrotal transposition 2843 Pentosuria 2847 Pericardial and diaphragmatic defect 2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 2849 Perlman syndrome 2850 Alopecia-intellectual disability syndrome 2854 Fuhrmann syndrome 2855 Perrault syndrome 2856 Persistent Müllerian duct syndrome 2863 Short stature-wormian bones-dextrocardia syndrome 2865 Short stature-webbed neck-heart disease syndrome 2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 2867 Short stature, Brussels type 2868 Short stature-valvular heart disease-characteristic facies syndrome 2869 Peutz-Jeghers syndrome 2871 Pfeiffer-Palm-Teller syndrome 2872 Cardiocranial syndrome, Pfeiffer type 2874 Phakomatosis pigmentokeratotica 2875 Phakomatosis pigmentovascularis 2876 PHAVER syndrome 2879 Phocomelia, Schinzel type 2880 Phosphoenolpyruvate carboxykinase deficiency 2881 Cutaneous photosensitivity-lethal colitis syndrome 2882 Sitosterolemia 2884 Piebaldism 2885 Piebald trait-neurologic defects syndrome 2886 TARP syndrome 2888 Pierre Robin syndrome-faciodigital anomaly syndrome 2889 Pili torti 2890 Pili torti-onychodysplasia syndrome 2891 Pili torti-developmental delay-neurological abnormalities syndrome 2892 Pilodental dysplasia-refractive errors syndrome 2896 Pitt-Hopkins syndrome 2897 Pityriasis rubra pilaris 2898 X-linked intellectual disability-plagiocephaly syndrome 2899 Brachyolmia-amelogenesis imperfecta syndrome 2900 Leri pleonosteosis 2901 Neuralgic amyotrophy 2902 Idiopathic chronic eosinophilic pneumonia 2903 Familial spontaneous pneumothorax 2905 POEMS syndrome 2907 Hereditary acrokeratotic poikiloderma 2908 Kindler epidermolysis bullosa 2909 Rothmund-Thomson syndrome 2911 Poland syndrome 2912 Poliomyelitis 2916 Postaxial polydactyly-dental and vertebral anomalies syndrome 2917 Polydactyly-myopia syndrome 2919 Orofaciodigital syndrome type 5 2920 Oliver syndrome 2921 Preaxial polydactyly-colobomata-intellectual disability syndrome 2924 Isolated polycystic liver disease 2926 Digital extensor muscle aplasia-polyneuropathy 2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 2929 Juvenile polyposis syndrome 2930 Cronkhite-Canada syndrome 2932 Chronic inflammatory demyelinating polyneuropathy 2934 Polysyndactyly-cardiac malformation syndrome 2935 Crossed polysyndactyly 2940 Porencephaly 2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome 2942 Postpoliomyelitis syndrome 2946 Brachydactyly-long thumb syndrome 2947 Triphalangeal thumbs-brachyectrodactyly syndrome 2951 Absent thumb-short stature-immunodeficiency syndrome 2952 Adducted thumbs-arthrogryposis syndrome, Christian type 2953 Musculocontractural Ehlers-Danlos syndrome 2956 Acrodysplasia scoliosis 2957 Guttmacher syndrome 2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome 2959 Progeria-short stature-pigmented nevi syndrome 2962 De Barsy syndrome 2963 Progeroid syndrome, Petty type 2964 Autosomal dominant prognathism 2965 Prolactinoma 2966 Properdin deficiency 2967 Transcobalamin I deficiency 2968 Leukocyte adhesion deficiency 2969 Proteus-like syndrome 2970 Prune belly syndrome 2971 Peroxisomal acyl-CoA oxidase deficiency 2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 2973 46,XX difference of sex development-anorectal anomalies syndrome 2975 46,XX difference of sex development-skeletal anomalies syndrome 2976 Pseudoleprechaunism syndrome, Patterson type 2978 Chronic intestinal pseudoobstruction 2980 Acrootoocular syndrome 2983 Difference of sex development-intellectual disability syndrome 2985 Pseudoprogeria syndrome 2987 Antecubital pterygium syndrome 2988 Pterygium colli-intellectual disability-digital anomalies syndrome 2989 Familial pterygium of the conjunctiva 2990 Autosomal recessive multiple pterygium syndrome 2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome 2995 Baraitser-Winter cerebrofrontofacial syndrome 2997 Ptosis-vocal cord paralysis syndrome 2999 Ptosis-strabismus-ectopic pupils syndrome 3000 Familial peripheral male-limited precocious puberty 3002 Immune thrombocytopenia 3003 Pyknoachondrogenesis 3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome 3005 Pyle disease 3006 Pyridoxine-dependent epilepsy 3008 Pyruvate carboxylase deficiency 3010 Qazi-Markouizos syndrome 3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 3015 Radio-renal syndrome 3016 Absent radius-anogenital anomalies syndrome 3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome 3019 Ramon syndrome 3020 Ramsay Hunt syndrome 3021 RAPADILINO syndrome 3023 External auditory canal atresia-vertical talus-hypertelorism syndrome 3026 Radial ray hypoplasia-choanal atresia syndrome 3027 Caudal regression syndrome 3032 NPHP3-related Meckel-like syndrome 3033 Renal tubular dysgenesis 3034 Delayed membranous cranial ossification 3035 Growth delay-hydrocephaly-lung hypoplasia syndrome 3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 3041 Intellectual disability-balding-patella luxation-acromicria syndrome 3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome 3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 3051 Nicolaides-Baraitser syndrome 3052 X-linked intellectual disability-seizures-psoriasis syndrome 3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 3057 Monoamine oxidase A deficiency 3063 X-linked intellectual disability, Snyder type 3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome 3071 Costello syndrome 3074 Intellectual disability-short stature-hypertelorism syndrome 3077 X-linked intellectual disability-psychosis-macroorchidism syndrome 3078 Severe X-linked intellectual disability, Gustavson type 3079 Intellectual disability, Buenos-Aires type 3080 Intellectual disability, Wolff type 3082 Intellectual disability-polydactyly-uncombable hair syndrome 3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 3086 Autosomal dominant vitreoretinochoroidopathy 3088 Revesz syndrome 3092 Fixed subaortic stenosis 3093 Congenital aortic valve stenosis 3095 Atypical Rett syndrome 3096 Reye syndrome 3097 Meacham syndrome 3098 Rhizomelic syndrome, Urbach type 3099 Rheumatic fever 3101 Richieri Costa-da Silva syndrome 3102 Richieri Costa-Pereira syndrome 3103 Roberts syndrome 3104 Robin sequence-oligodactyly syndrome 3107 Autosomal dominant Robinow syndrome 3109 Mayer-Rokitansky-Küster-Hauser syndrome 3110 Rombo syndrome 3111 Rotor syndrome 3115 Roussy-Lévy syndrome 3121 Ruvalcaba syndrome 3124 Saccharopinuria 3129 Sarcosinemia 3130 Satoyoshi syndrome 3132 Say-Barber-Miller syndrome 3134 SCARF syndrome 3137 Alpha-N-acetylgalactosaminidase deficiency 3138 Ulnar-mammary syndrome 3143 Autoimmune polyendocrinopathy type 2 3144 Schneckenbecken dysplasia 3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome 3148 Malignant peripheral nerve sheath tumor 3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 3152 Sclerosteosis 3156 Senior-Loken syndrome 3157 Septo-optic dysplasia spectrum 3161 Congenital pulmonary sequestration 3162 Sézary syndrome 3163 SHORT syndrome 3164 Omphalocele syndrome, Shprintzen-Goldberg type 3165 Eosinophilic fasciitis 3166 Sialuria 3167 Siegler-Brewer-Carey syndrome 3168 Sillence syndrome 3169 Sirenomelia 3172 Eyebrow duplication-syndactyly syndrome 3173 Infantile spasms-broad thumbs syndrome 3175 X-linked spasticity-intellectual disability-epilepsy syndrome 3176 Spina bifida-hypospadias syndrome 3177 Spinocerebellar degeneration-corneal dystrophy syndrome 3180 Spondylocamptodactyly syndrome 3181 Sprengel deformity 3184 Steatocystoma multiplex-natal teeth syndrome 3186 Holoprosencephaly-radial heart renal anomalies syndrome 3189 Congenital pulmonary valvar stenosis 3190 Subpulmonary stenosis 3191 Subaortic stenosis-short stature syndrome 3192 Supravalvular pulmonary stenosis 3193 Supravalvular aortic stenosis 3194 Corneodermatoosseous syndrome 3196 Steroid dehydrogenase deficiency-dental anomalies syndrome 3197 Hereditary hyperekplexia 3198 Stiff person spectrum disorder 3199 Stimmler syndrome 3200 Arthrogryposis-ectodermal dysplasia syndrome 3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome 3202 Dehydrated hereditary stomatocytosis 3203 Overhydrated hereditary stomatocytosis 3204 Stormorken-Sjaastad-Langslet syndrome 3205 Sturge-Weber syndrome 3206 Stüve-Wiedemann syndrome 3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 3208 Isolated succinate-CoQ reductase deficiency 3214 Deaf blind hypopigmentation syndrome, Yemenite type 3216 Conductive deafness-malformed external ear syndrome 3217 Deafness-small bowel diverticulosis-neuropathy syndrome 3218 Deafness-epiphyseal dysplasia-short stature syndrome 3219 Fountain syndrome 3220 Deafness-enamel hypoplasia-nail defects syndrome 3222 Phosphoribosylpyrophosphate synthetase superactivity 3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome 3230 Deafness-oligodontia syndrome 3232 Deafness-ear malformation-facial palsy syndrome 3233 Cochleosaccular degeneration-cataract syndrome 3235 Progressive deafness with stapes fixation 3236 Conductive deafness-ptosis-skeletal anomalies syndrome 3237 Multiple synostoses syndrome 3238 Cardiospondylocarpofacial syndrome 3239 Deafness-vitiligo-achalasia syndrome 3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome 3241 Deafness-craniofacial syndrome 3242 Renpenning syndrome 3243 Sweet syndrome 3246 Symphalangism with multiple anomalies of hands and feet 3248 Isolated distal symphalangism 3250 Proximal symphalangism 3253 Cleft lip/palate-ectodermal dysplasia syndrome 3255 Filippi syndrome 3258 Cenani-Lenz syndrome 3259 Syndactyly-polydactyly-ear lobe syndrome 3260 Idiopathic hypereosinophilic syndrome 3261 Autoimmune lymphoproliferative syndrome 3262 Dobrow syndrome 3263 Syngnathia-cleft palate syndrome 3265 Isolated humero-radial synostosis 3266 Isolated humero-radio-ulnar synostosis 3268 Radioulnar synostosis-microcephaly-scoliosis syndrome 3269 Isolated radio-ulnar synostosis 3270 Radioulnar synostosis-developmental delay-hypotonia syndrome 3273 Synovial sarcoma 3275 Spondylocarpotarsal synostosis 3282 Multifocal atrial tachycardia 3283 His bundle tachycardia 3286 Catecholaminergic polymorphic ventricular tachycardia 3287 Takayasu arteritis 3291 Teebi-Shaltout syndrome 3292 Tel Hashomer camptodactyly syndrome 3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome 3294 Extensor tendons of finger anomalies 3299 Tetanus 3301 Tetraamelia-multiple malformations syndrome 3303 Tetralogy of Fallot 3304 Fallot complex-intellectual disability-growth delay syndrome 3305 Tetraploidy 3306 Inverted duplicated chromosome 15 syndrome 3307 Tetrasomy 18p 3309 Tetrasomy 5p 3310 Tetrasomy 9p 3312 Thalidomide embryopathy 3314 Thiemann disease, familial form 3316 Thomas syndrome 3317 Thoracolaryngopelvic dysplasia 3318 Essential thrombocythemia 3319 Congenital amegakaryocytic thrombocytopenia 3320 Thrombocytopenia-absent radius syndrome 3322 Hoyeraal-Hreidarsson syndrome 3324 Familial thrombomodulin anomalies 3325 Heparin-induced thrombocytopenia 3326 Thymic-renal-anal-lung dysplasia 3327 Thyrocerebrorenal syndrome 3328 Absent tibia-polydactyly-arachnoid cyst syndrome 3329 Tibial aplasia-ectrodactyly syndrome 3337 Primary Fanconi renotubular syndrome 3338 Toriello-Carey syndrome 3339 Oculoectodermal syndrome 3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome 3342 Arterial tortuosity syndrome 3343 Toxocariasis 3344 Weismann-Netter syndrome 3346 Tracheal agenesis 3347 Mounier-Kühn syndrome 3348 Tracheobronchopathia osteochondroplastica 3350 Tremor-nystagmus-duodenal ulcer syndrome 3351 Trichodental syndrome 3352 Tricho-dento-osseous syndrome 3353 Trichodermodysplasia-dental alterations syndrome 3355 Trichoodontoonychial dysplasia 3361 Trichodysplasia-xeroderma syndrome 3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 3365 Trigonocephaly-broad thumbs syndrome 3366 Non-syndromic metopic craniosynostosis 3368 Trigonocephaly-bifid nose-acral anomalies syndrome 3369 Trigonocephaly-short stature-developmental delay syndrome 3374 Unilateral ocular duplication 3375 Trisomy X 3376 Triploidy 3377 Trismus-pseudocamptodactyly syndrome 3378 Trisomy 13 3379 Distal duplication 17q 3380 Trisomy 18 3383 Humerus trochlea aplasia 3384 Common arterial trunk 3385 African trypanosomiasis 3386 American trypanosomiasis 3387 Isolated anterior cervical hypertrichosis 3392 Tularemia 3400 Aorto-ventricular tunnel 3402 Transient tyrosinemia of the newborn 3403 Uhl anomaly 3404 Ulbright-Hodes syndrome 3405 Umbilical cord ulceration-intestinal atresia syndrome 3406 Ulerythema ophryogenesis 3408 Upington disease 3409 Urban-Rogers-Meyer syndrome 3411 Double uterus-hemivagina-renal agenesis syndrome 3412 VACTERL with hydrocephalus 3416 Hyperostosis corticalis generalisata 3417 Van den Bosch syndrome 3424 Velo-facial-skeletal syndrome 3426 Double outlet right ventricle 3427 Double outlet left ventricle 3429 Verloove Vanhorick-Brubakk syndrome 3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome 3434 MMEP syndrome 3437 Vogt-Koyanagi-Harada disease 3439 Von Voss-Cherstvoy syndrome 3440 Waardenburg syndrome 3447 Weaver syndrome 3448 Weaver-Williams syndrome 3449 Weill-Marchesani syndrome 3451 Infantile spasms syndrome 3452 Whipple disease 3453 Autoimmune polyendocrinopathy type 1 3454 Intellectual disability-developmental delay-contractures syndrome 3455 Wiedemann-Rautenstrauch syndrome 3456 Wildervanck syndrome 3459 Wilson-Turner syndrome 3463 Wolfram syndrome 3464 Woodhouse-Sakati syndrome 3465 Worster-Drought syndrome 3466 WT limb-blood syndrome 3467 Hereditary xanthinuria 3469 XK aprosencephaly syndrome 3471 Young syndrome 3472 Yunis-Varon syndrome 3473 Zimmermann-Laband syndrome 3474 CHIME syndrome 25968 Benign occipital epilepsy 25980 X-linked myopathy with excessive autophagy 26106 Hereditary diffuse gastric cancer 26137 Juvenile temporal arteritis 26348 Acquired prothrombin deficiency 26349 Protein S acquired deficiency 26790 Pseudomyxoma peritonei 26791 Multiple acyl-CoA dehydrogenase deficiency 26792 Short chain acyl-CoA dehydrogenase deficiency 26793 Very long chain acyl-CoA dehydrogenase deficiency 28378 Tyrosinemia type 2 29072 Hereditary pheochromocytoma-paraganglioma 29073 Multiple myeloma 29207 Reactive arthritis 29822 Spontaneous periodic hypothermia 30391 Isolated biliary atresia 30924 Primary hypomagnesemia with secondary hypocalcemia 30925 Hereditary arginine vasopressin deficiency 31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement 31112 Dermatofibrosarcoma protuberans 31150 Tangier disease 31202 Melioidosis 31204 Nocardiosis 31205 Rat-bite fever 31709 Infantile convulsions and choreoathetosis 31824 Colchicine poisoning 31825 Methanol poisoning 31826 Ethylene glycol poisoning 31827 Paraquat poisoning 31828 Digitalis poisoning 31837 Pulmonary venoocclusive disease 32960 Tumor necrosis factor receptor 1 associated periodic syndrome 33001 Lymphedema-distichiasis syndrome 33067 Metaphyseal chondrodysplasia, Jansen type 33069 Dravet syndrome 33108 Lethal multiple pterygium syndrome 33110 Autosomal agammaglobulinemia 33111 Granulomatous slack skin 33208 Idiopathic hypersomnia 33226 Waldenström macroglobulinemia 33276 Kaposi sarcoma 33314 Jessner lymphocytic infiltration of the skin 33355 Reticular dysgenesis 33364 Trichothiodystrophy 33402 Pediatric hepatocellular carcinoma 33408 Bullous lichen planus 33445 Neuroectodermal melanolysosomal disease 33475 Meningococcal meningitis 33543 Kleine-Levin syndrome 33572 5-oxoprolinase deficiency 33573 Gamma-glutamyl transpeptidase deficiency 33574 Glutamate-cysteine ligase deficiency 33577 Nodular non-suppurative panniculitis 34145 Immunoglobulin A nephropathy 34149 Autosomal dominant tubulointerstitial kidney disease 34217 Naxos disease 34514 Telethonin-related limb-girdle muscular dystrophy R7 34515 FKRP-related limb-girdle muscular dystrophy R9 34516 DNAJB6-related limb-girdle muscular dystrophy D1 34520 Congenital muscular dystrophy with integrin alpha-7 deficiency 34528 Autosomal dominant primary hypomagnesemia with hypocalciuria 34587 Danon disease 34592 Immunodeficiency by defective expression of MHC class I 35062 Severe disseminated cytomegalovirus infection in immunocompetent patients 35063 Fulminant viral hepatitis 35069 Infantile neuroaxonal dystrophy 35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency 35093 Non-syndromic sagittal craniosynostosis 35099 Non-syndromic bicoronal craniosynostosis 35107 Desmosterolosis 35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 35121 Lysosomal acid phosphatase deficiency 35122 Congenital sucrase-isomaltase deficiency 35125 Epidermal nevus syndrome 35173 X-linked dominant chondrodysplasia punctata 35612 Nanophthalmos 35664 ALDH18A1-related De Barsy syndrome 35686 Serpiginous choroiditis 35687 Erdheim-Chester disease 35689 Primary lateral sclerosis 35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 35704 L-Arginine:glycine amidinotransferase deficiency 35706 Glutaric acidemia type 3 35708 Aromatic L-amino acid decarboxylase deficiency 35710 Glucose-galactose malabsorption 35737 Morning glory disc anomaly 35858 Imerslund-Gräsbeck syndrome 35878 Hyperinsulinism-hyperammonemia syndrome 35889 Acute opioid intoxication 35909 Combined deficiency of factor V and factor VIII 36234 Bacterial toxic-shock syndrome 36235 Staphylococcal scarlet fever 36236 Staphylococcal scalded skin syndrome 36237 Bullous impetigo 36238 Staphylococcal necrotizing pneumonia 36258 Buerger disease 36273 Gastric linitis plastica 36355 Bleeding disorder due to P2Y12 defect 36367 Distal deletion 1q 36382 Familial cervical artery dissection 36383 COL4A1/2-related familial vascular leukoencephalopathy 36386 Hereditary sensory and autonomic neuropathy type 1 36387 Generalized epilepsy with febrile seizures-plus 36397 Adiposis dolorosa 36412 Hypocomplementemic urticarial vasculitis 36426 Stevens-Johnson syndrome 36899 Myoclonus-dystonia syndrome 36913 Autoimmune hypoparathyroidism 37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 37202 Interstitial cystitis 37553 Andersen-Tawil syndrome 37559 Acquired kinky hair syndrome 37612 Episodic ataxia type 1 37748 Schnitzler syndrome 38874 Dihydropyrimidinuria 39041 Omenn syndrome 39044 Uveal melanoma 39812 Graft versus host disease 40366 Acitretin/etretinate embryopathy 40923 Eales disease 41751 Bietti crystalline dystrophy 42062 Iminoglycinuria 42642 PFAPA syndrome 42665 Tietz syndrome 42775 PHACE syndrome 43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 43116 Serotonin syndrome 43117 Acute tricyclic antidepressant poisoning 43119 Acute poisoning by drugs with membrane-stabilizing effect 43393 Lambert-Eaton myasthenic syndrome 44890 Gastrointestinal stromal tumor 45358 Congenital fibrosis of extraocular muscles 45448 Miyoshi myopathy 45452 Idiopathic neonatal atrial flutter 45453 Incessant infant ventricular tachycardia 46059 Lathosterolosis 46135 Primary central nervous system lymphoma 46348 Paroxysmal extreme pain disorder 46486 Mucous membrane pemphigoid 46487 Epidermolysis bullosa acquisita 46488 Linear IgA dermatosis 46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 46627 Char syndrome 46724 Cerebral arteriovenous malformation 47044 Hereditary papillary renal cell carcinoma 47045 Familial cold urticaria 47159 Proximal renal tubular acidosis 47612 Felty syndrome 48104 Pyoderma gangrenosum 48162 Lewis-Sumner syndrome 48372 Nodular regenerative hyperplasia of the liver 48377 Subcorneal pustular dermatosis 48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome 48435 Postinfectious vasculitis 48652 Phelan-McDermid syndrome 48686 Primary effusion lymphoma 48736 Embryonal carcinoma of the central nervous system 48818 Aceruloplasminemia 48918 Focal myositis 49041 IgG4-related retroperitoneal fibrosis 49042 Dentinogenesis imperfecta 49382 Achromatopsia 49566 Acquired purpura fulminans 49804 Lichen amyloidosis 49827 Thiamine-responsive megaloblastic anemia syndrome 50251 Pleural mesothelioma 50809 Talo-patello-scaphoid osteolysis 50810 Microlissencephaly-micromelia syndrome 50811 Lipodystrophy-intellectual disability-deafness syndrome 50812 Zellweger-like syndrome without peroxisomal anomalies 50814 Craniolenticulosutural dysplasia 50815 Branchiogenic deafness syndrome 50817 Duane anomaly-myopathy-scoliosis syndrome 50839 Cat-scratch disease 50918 Kikuchi-Fujimoto disease 50942 Striate palmoplantar keratoderma 50943 Keratolytic winter erythema 50944 Schöpf-Schulz-Passarge syndrome 50945 Blomstrand lethal chondrodysplasia 51083 Familial short QT syndrome 51084 Torsade-de-pointes syndrome with short coupling interval 51188 Ethylmalonic encephalopathy 51208 Formiminoglutamic aciduria 51608 Generalized arterial calcification of infancy 51636 WHIM syndrome 51890 Anterior cutaneous nerve entrapment syndrome 52022 Potocki-Shaffer syndrome 52047 Braddock syndrome 52054 Craniosynostosis-intracranial calcifications syndrome 52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 52056 Ulnar/fibula ray defect-brachydactyly syndrome 52368 Mohr-Tranebjaerg syndrome 52416 Mantle cell lymphoma 52417 MALT lymphoma 52427 Retinitis punctata albescens 52429 Branchiootic syndrome 52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 52503 X-linked creatine transporter deficiency 52530 Pseudo-von Willebrand disease 52901 Isolated follicle stimulating hormone deficiency 52994 Orbital leiomyoma 53035 Caroli disease 53271 Muenke syndrome 53296 Familial cutaneous collagenoma 53347 Brody myopathy 53351 X-linked dystonia-parkinsonism 53372 Hereditary geniospasm 53540 Goldmann-Favre syndrome 53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity 53689 Congenital chloride diarrhea 53690 Congenital lactase deficiency 53691 Congenital cornea plana 53693 GRACILE syndrome 53696 Arthrogryposis-anterior horn cell disease syndrome 53697 Gnathodiaphyseal dysplasia 53698 Myosin storage myopathy 53715 Familial tumoral calcinosis 53719 Wyburn-Mason syndrome 53721 Spinal arteriovenous metameric syndrome 54028 Plummer-Vinson syndrome 54057 Thrombotic thrombocytopenic purpura 54247 Posterior cortical atrophy 54251 Aseptic abscess syndrome 54260 Left ventricular noncompaction 54272 Hepatocellular adenoma 54368 Sarcocystosis 54370 Primary membranoproliferative glomerulonephritis 54595 Craniopharyngioma 55595 TNP03-related limb-girdle muscular dystrophy D2 55596 HNRNPDL-related limb-girdle muscular dystrophy D3 55654 Hypotrichosis simplex 55655 Pneumococcal meningitis 55880 Chondrosarcoma 55881 Adamantinoma 56304 Atelosteogenesis type II 56305 Atelosteogenesis type III 56425 Cold agglutinin disease 57145 SUNCT syndrome 57196 Medial condensing osteitis of the clavicle 57777 Cirrhotic cardiomyopathy 57782 Mazabraud syndrome 58017 Classic hairy cell leukemia 58040 Osteoblastoma 59135 Laing early-onset distal myopathy 59181 Sorsby pseudoinflammatory fundus dystrophy 59298 Schilder disease 59303 Neonatal ichthyosis-sclerosing cholangitis syndrome 59306 McLeod neuroacanthocytosis syndrome 59315 Rhombencephalosynapsis 60014 Argyria 60015 Enlarged parietal foramina 60025 Pulmonary alveolar microlithiasis 60026 Pulmonary nodular lymphoid hyperplasia 60030 Loeys-Dietz syndrome 60032 Recurrent respiratory papillomatosis 60033 Idiopathic bronchiectasis 60039 Pudendal nerve entrapment syndrome 60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 60041 Congenital heart block 63259 Iniencephaly 63260 Craniorachischisis 63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis 63273 Distal myopathy with posterior leg and anterior hand involvement 63275 Pemphigoid gestationis 63442 Angel-shaped phalango-epiphyseal dysplasia 63446 Acrocapitofemoral dysplasia 63455 Paraneoplastic pemphigus 63862 Schisis association 63999 IgG4-related mediastinitis 64280 Childhood absence epilepsy 64542 Acrofacial dysostosis, Kennedy-Teebi type 64545 Benign idiopathic neonatal seizures 64686 Tolosa-Hunt syndrome 64692 Bartonella bacilliformis infection 64694 Trench fever 64720 Leiomyosarcoma 64722 Granulomatous mastitis 64734 Iridocorneal endothelial syndrome 64739 Ovarian hyperstimulation syndrome 64741 Pulmonary blastoma 64742 Pleuropulmonary blastoma 64743 Hepatoportal sclerosis 64744 IgG4-related thyroid disease 64745 Pruritic urticarial papules and plaques of pregnancy 64748 Dejerine-Sottas syndrome 64751 Hereditary motor and sensory neuropathy type 5 64752 Hereditary sensory and autonomic neuropathy type 5 64753 Spinocerebellar ataxia with axonal neuropathy type 2 64754 Nevus comedonicus syndrome 64755 Becker nevus syndrome 65282 Carvajal syndrome 65283 Timothy syndrome 65284 Biotin-thiamine-responsive basal ganglia disease 65285 Lhermitte-Duclos disease 65286 3q29 microdeletion syndrome 65287 Beta-ureidopropionase deficiency 65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 65681 Vaginal atresia 65682 Benign recurrent intrahepatic cholestasis 65683 Isolated focal cortical dysplasia 65684 Monomelic amyotrophy 65720 Arthrogryposis-severe scoliosis syndrome 65743 Autosomal dominant multiple pterygium syndrome 65748 Multiple self-healing squamous epithelioma 65759 Carpenter syndrome 66518 Short fifth metacarpals-insulin resistance syndrome 66529 Tako-Tsubo cardiomyopathy 66624 PANDAS 66625 Cerebrooculonasal syndrome 66627 Tenosynovial giant cell tumor 66628 Obesity due to congenital leptin deficiency 66629 Goldberg-Shprintzen megacolon syndrome 66630 Congenital pseudoarthrosis of the clavicle 66631 CEDNIK syndrome 66633 Sensorineural hearing loss-early graying-essential tremor syndrome 66634 Dilated cardiomyopathy with ataxia 66637 Diaphanospondylodysostosis 66661 Mast cell sarcoma 66662 Extracutaneous mastocytoma 67036 Autosomal dominant optic atrophy and cataract 67038 B-cell chronic lymphocytic leukemia 67039 Segmental odontomaxillary dysplasia 67041 Hyaluronidase deficiency 67042 Late-onset retinal degeneration 67043 Amoebic keratitis 67044 Thrombocytopenia with congenital dyserythropoietic anemia 67045 X-linked intellectual disability with isolated growth hormone deficiency 67046 3-methylglutaconic aciduria type 1 67047 3-methylglutaconic aciduria type 3 67048 3-methylglutaconic aciduria type 4 69061 Idiopathic steroid-sensitive nephrotic syndrome 69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization 69076 Familial renal glucosuria 69077 Rhabdoid tumor 69078 Liposarcoma 69082 Odonto-tricho-ungual-digito-palmar syndrome 69083 Ectodermal dysplasia with natal teeth, Turnpenny type 69084 Pure hair and nail ectodermal dysplasia 69085 Limb-mammary syndrome 69087 Naegeli-Franceschetti-Jadassohn syndrome 69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 69125 Anonychia with flexural pigmentation 69126 PAPA syndrome 69663 Low phospholipid-associated cholelithiasis 69665 Intrahepatic cholestasis of pregnancy 69723 Tyrosinemia type 3 69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 69736 Bilateral acute depigmentation of the iris 69737 Bosley-Salih-Alorainy syndrome 69739 Athabaskan brainstem dysgenesis syndrome 69744 Circumscribed palmoplantar hypokeratosis 69745 Warty dyskeratoma 70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 70475 Radiation proctitis 70476 Vernal keratoconjunctivitis 70567 Cholangiocarcinoma 70568 Post-transplant lymphoproliferative disease 70573 Small cell lung cancer 70578 Adult acute respiratory distress syndrome 70587 Infant acute respiratory distress syndrome 70588 Meconium aspiration syndrome 70589 Bronchopulmonary dysplasia 70590 Infantile apnea 70591 Chronic thromboembolic pulmonary hypertension 70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency 70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency 70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 70596 Congenital Epstein-Barr virus infection 71211 Neuromyelitis optica spectrum disorder 71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 71213 Retinal capillary malformation 71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 71271 Split hand-split foot-deafness syndrome 71272 Sandifer syndrome 71273 Renal nutcracker syndrome 71274 Disseminated peritoneal leiomyomatosis 71275 Rh deficiency syndrome 71276 Silent sinus syndrome 71277 Classic glucose transporter type 1 deficiency syndrome 71278 Congenital brain dysgenesis due to glutamine synthetase deficiency 71279 CANOMAD syndrome 71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 71290 Familial platelet disorder with associated myeloid malignancy 71493 Familial thrombocytosis 71505 Cancer-associated retinopathy 71517 Rapid-onset dystonia-parkinsonism 71518 Benign paroxysmal torticollis of infancy 71519 Psychogenic movement disorders 71526 Obesity due to pro-opiomelanocortin deficiency 71528 Obesity due to prohormone convertase I deficiency 71529 Obesity due to melanocortin 4 receptor deficiency 73223 Global developmental delay-osteopenia-ectodermal defect syndrome 73224 Kidney tubulopathy-dilated cardiomyopathy syndrome 73229 HANAC syndrome 73230 Ossification anomalies-psychomotor developmental delay syndrome 73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 73256 Central neurocytoma 73260 Paracoccidioidomycosis 73263 Zygomycosis 73267 Non-24-hour sleep-wake syndrome 73271 Bleeding diathesis due to a collagen receptor defect 73272 Growth delay due to insulin-like growth factor type 1 deficiency 73273 Growth delay due to insulin-like growth factor I resistance 73423 Acute ackee fruit intoxication 75233 Wolman disease 75234 Cholesteryl ester storage disease 75249 Familial isolated restrictive cardiomyopathy 75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome 75326 Familial isolated retinal arteriolar tortuosity 75327 North Carolina macular dystrophy 75373 Progressive bifocal chorioretinal atrophy 75374 Bradyopsia 75376 Familial drusen 75377 Central areolar choroidal dystrophy 75378 Oligocone trichromacy 75381 Cystoid macular dystrophy 75382 Oguchi disease 75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome 75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 75392 Periodontal Ehlers-Danlos syndrome 75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome 75497 X-linked Ehlers-Danlos syndrome 75508 Angioosteohypotrophic syndrome 75563 X-linked sideroblastic anemia 75564 Acquired idiopathic sideroblastic anemia 75565 Tropical endomyocardial fibrosis 75566 Loeffler endocarditis 75567 Primary progressive freezing gait 75840 Ullrich congenital muscular dystrophy 75857 6q terminal deletion syndrome 75858 MORM syndrome 77258 Trichorhinophalangeal syndrome type 1 77259 Gaucher disease type 1 77260 Gaucher disease type 2 77261 Gaucher disease type 3 77292 Infantile neurovisceral acid sphingomyelinase deficiency 77293 Chronic visceral acid sphingomyelinase deficiency 77295 Odontoleukodystrophy 77296 Morgagni-Stewart-Morel syndrome 77297 Majeed syndrome 77298 Anophthalmia/microphthalmia-esophageal atresia syndrome 77299 Microphthalmia-brain atrophy syndrome 77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 77301 Monosomy 9q22.3 79076 Juvenile polyposis of infancy 79078 IgG4-related dacryoadenitis and sialadenitis 79083 PPARG-related familial partial lipodystrophy 79084 Familial partial lipodystrophy, Köbberling type 79085 AKT2-related familial partial lipodystrophy 79086 Acquired generalized lipodystrophy 79087 Acquired partial lipodystrophy 79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 79093 Foix-Alajouanine syndrome 79094 Grange syndrome 79095 Congenital bile acid synthesis defect type 4 79096 Pyridoxal phosphate-responsive seizures 79097 Folinic acid-responsive seizures 79098 Sympathetic ophthalmia 79099 Interstitial granulomatous dermatitis with arthritis 79100 Atrophoderma vermiculata 79101 Hyperprolinemia type 2 79102 Thyrotoxic periodic paralysis 79105 Myxofibrosarcoma 79106 Eiken syndrome 79107 Developmental malformations-deafness-dystonia syndrome 79113 Mandibulofacial dysostosis-microcephaly syndrome 79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome 79124 Hepatic veno-occlusive disease-immunodeficiency syndrome 79126 Acute interstitial pneumonia 79127 Respiratory bronchiolitis-interstitial lung disease syndrome 79128 Lymphoid interstitial pneumonia 79129 Trichodysplasia-amelogenesis imperfecta syndrome 79133 Focal facial dermal dysplasia type I 79134 DEND syndrome 79135 Episodic ataxia type 3 79136 Episodic ataxia type 4 79137 Generalized epilepsy-paroxysmal dyskinesia syndrome 79138 Bickerstaff brainstem encephalitis 79139 Japanese encephalitis 79140 Cutaneous neuroendocrine carcinoma 79141 Hereditary painful callosities 79143 Isolated congenital anonychia 79144 Isolated congenital onychodysplasia 79145 Dowling-Degos disease 79146 Familial progressive hyperpigmentation 79147 Familial reactive perforating collagenosis 79148 Elastosis perforans serpiginosa 79149 Dermochondrocorneal dystrophy 79150 Linear and whorled nevoid hypermelanosis 79151 Acrokeratosis verruciformis of Hopf 79152 Disseminated superficial actinic porokeratosis 79153 Idiopathic trachyonychia 79154 2-aminoadipic 2-oxoadipic aciduria 79155 Hydroxykynureninuria 79156 Seizures-intellectual disability due to hydroxylysinuria syndrome 79157 2-methylbutyryl-CoA dehydrogenase deficiency 79159 Isobutyryl-CoA dehydrogenase deficiency 79230 HJV or HAMP-related hemochromatosis 79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency 79234 Crigler-Najjar syndrome type 1 79235 Crigler-Najjar syndrome type 2 79237 Galactokinase deficiency 79238 Galactose epimerase deficiency 79239 Classic galactosemia 79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency 79241 Biotinidase deficiency 79242 Holocarboxylase synthetase deficiency 79243 Pyruvate dehydrogenase E1-alpha deficiency 79244 Pyruvate dehydrogenase E2 deficiency 79246 Pyruvate dehydrogenase phosphatase deficiency 79253 Mild phenylketonuria 79254 Classic phenylketonuria 79255 GM1 gangliosidosis type 1 79256 GM1 gangliosidosis type 2 79257 GM1 gangliosidosis type 3 79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia 79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib 79269 Sanfilippo syndrome type A 79270 Sanfilippo syndrome type B 79271 Sanfilippo syndrome type C 79272 Sanfilippo syndrome type D 79273 Hereditary coproporphyria 79276 Acute intermittent porphyria 79277 Congenital erythropoietic porphyria 79278 Autosomal erythropoietic protoporphyria 79279 Alpha-N-acetylgalactosaminidase deficiency type 1 79280 Alpha-N-acetylgalactosaminidase deficiency type 2 79281 Alpha-N-acetylgalactosaminidase deficiency type 3 79282 Methylmalonic acidemia with homocystinuria, type cblC 79283 Methylmalonic acidemia with homocystinuria, type cblD 79284 Methylmalonic acidemia with homocystinuria type cblF 79292 Fish-eye disease 79293 Familial LCAT deficiency 79299 Congenital glucokinase-related hyperinsulinism 79301 Congenital bile acid synthesis defect type 1 79302 Congenital bile acid synthesis defect type 3 79303 Congenital bile acid synthesis defect type 2 79304 Progressive familial intrahepatic cholestasis type 2 79305 Progressive familial intrahepatic cholestasis type 3 79306 Progressive familial intrahepatic cholestasis type 1 79310 Vitamin B12-responsive methylmalonic acidemia type cblA 79311 Vitamin B12-responsive methylmalonic acidemia type cblB 79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- 79314 L-2-hydroxyglutaric aciduria 79315 D-2-hydroxyglutaric aciduria 79318 PMM2-CDG 79319 MPI-CDG 79320 ALG6-CDG 79321 ALG3-CDG 79322 DPM1-CDG 79323 MPDU1-CDG 79324 ALG12-CDG 79325 ALG8-CDG 79326 ALG2-CDG 79327 ALG1-CDG 79328 ALG9-CDG 79329 MGAT2-CDG 79330 MOGS-CDG 79332 B4GALT1-CDG 79333 COG7-CDG 79345 Brachytelephalangic chondrodysplasia punctata 79346 Chondrodysplasia punctata, tibial-metacarpal type 79347 Chondrodysplasia punctata, Toriello type 79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form 79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 79394 Congenital ichthyosiform erythroderma 79395 Keratoderma hereditarium mutilans with ichthyosis 79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form 79397 Epidermolysis bullosa simplex with mottled pigmentation 79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form 79400 Localized epidermolysis bullosa simplex 79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement 79402 Intermediate generalized junctional epidermolysis bullosa 79403 Junctional epidermolysis bullosa with pyloric atresia 79404 Severe generalized junctional epidermolysis bullosa 79405 Junctional epidermolysis bullosa inversa 79406 Late-onset junctional epidermolysis bullosa 79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form 79409 Recessive dystrophic epidermolysis bullosa inversa 79410 Localized dystrophic epidermolysis bullosa, pretibial form 79411 Self-improving dystrophic epidermolysis bullosa 79414 Woolly hair nevus 79430 Hermansky-Pudlak syndrome 79431 Oculocutaneous albinism type 1A 79432 Oculocutaneous albinism type 2 79433 Oculocutaneous albinism type 3 79434 Oculocutaneous albinism type 1B 79435 Oculocutaneous albinism type 4 79443 Pseudohypoparathyroidism type 1A 79444 Pseudohypoparathyroidism type 1C 79445 Pseudopseudohypoparathyroidism 79447 X-linked lethal multiple pterygium syndrome 79452 Milroy disease 79455 Cutaneous mastocytoma 79456 Diffuse cutaneous mastocytosis 79457 Maculopapular cutaneous mastocytosis 79466 Inflammatory linear verrucous epidermal nevus 79467 Verrucous nevus 79468 Acanthokeratolytic verrucous nevus 79473 Variegate porphyria 79474 Atypical Werner syndrome 79476 Griscelli syndrome type 1 79477 Griscelli syndrome type 2 79478 Griscelli syndrome type 3 79479 Pemphigus vegetans 79480 Pemphigus erythematosus 79481 Pemphigus foliaceus 79483 Phakomatosis cesioflammea 79484 Phakomatosis cesiomarmorata 79485 Phakomatosis spilorosea 79489 Macrocystic lymphatic malformation 79490 Microcystic lymphatic malformation 79492 Pili gemini 79493 Brooke-Spiegler syndrome 79495 X-linked congenital generalized hypertrichosis 79499 Autosomal dominant deafness-onychodystrophy syndrome 79500 DOORS syndrome 79501 Punctate palmoplantar keratoderma type 1 79502 Punctate palmoplantar keratoderma type 2 79503 Ichthyosis hystrix of Curth-Macklin 79506 Cholesterol-ester transfer protein deficiency 79507 Hypotonia-failure to thrive-microcephaly syndrome 79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency 79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 79651 Mild hyperphenylalaninemia 79665 Gardner syndrome 83311 Rocky Mountain spotted fever 83312 Rickettsialpox 83313 Boutonneuse fever 83314 Epidemic typhus 83315 Murine typhus 83316 Pseudotyphus of California 83317 Scrub typhus 83330 Proximal spinal muscular atrophy type 1 83418 Proximal spinal muscular atrophy type 2 83419 Proximal spinal muscular atrophy type 3 83420 Proximal spinal muscular atrophy type 4 83450 Regional odontodysplasia 83451 Florid cemento-osseous dysplasia 83452 Complex regional pain syndrome 83453 Vulvovaginal gingival syndrome 83454 Glomuvenous malformation 83461 Congenital primary aphakia 83463 Microtia 83465 Narcolepsy type 2 83467 Morvan syndrome 83468 Solitary bone cyst 83469 Desmoplastic small round cell tumor 83471 T-cell immunodeficiency with thymic aplasia 83472 CAMOS syndrome 83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 83476 West-Nile encephalitis 83482 Mycoplasma encephalitis 83483 La Crosse encephalitis 83484 St. Louis encephalitis 83593 Western equine encephalitis 83594 Eastern equine encephalitis 83595 Colorado tick fever 83597 Acute disseminated encephalomyelitis 83600 Encephalitis lethargica 83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis 83616 Rubella panencephalitis 83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome 83620 Enteric anendocrinosis 83628 LUMBAR syndrome 83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome 83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 83642 Microcytic anemia with liver iron overload 84064 Syndromic diarrhea 84065 Idiopathic malabsorption due to bile acid synthesis defects 84081 Senior-Boichis syndrome 84085 Hinman syndrome 84087 Collagen type III glomerulopathy 84090 Fibronectin glomerulopathy 84093 Hereditary thermosensitive neuropathy 84132 Desmin-related myopathy with Mallory body-like inclusions 84142 Isaacs syndrome 85110 Familial encephalopathy with neuroserpin inclusion bodies 85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 85128 Bothnia retinal dystrophy 85136 Cystic leukoencephalopathy without megalencephaly 85138 Addison disease 85146 Neurogenic scapuloperoneal syndrome, Kaeser type 85162 Facial onset sensory and motor neuronopathy 85163 Hypomyelination-congenital cataract syndrome 85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome 85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 85166 Platyspondylic dysplasia, Torrance type 85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 85168 Craniofacial conodysplasia 85169 Familial digital arthropathy-brachydactyly 85170 Mesomelic dysplasia, Savarirayan type 85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 85173 IMAGe syndrome 85174 Pseudodiastrophic dysplasia 85175 Astley-Kendall dysplasia 85179 Infantile osteopetrosis with neuroaxonal dysplasia 85182 Diaphyseal medullary stenosis-bone malignancy syndrome 85184 Craniometadiaphyseal dysplasia, wormian bone type 85186 Endosteal sclerosis-cerebellar hypoplasia syndrome 85188 Metaphyseal dysplasia, Braun-Tinschert type 85191 Singleton-Merten dysplasia 85192 Calvarial doughnut lesions-bone fragility syndrome 85193 Idiopathic juvenile osteoporosis 85194 Spondylo-ocular syndrome 85195 Familial expansile osteolysis 85197 Genochondromatosis type 1 85198 Dysspondyloenchondromatosis 85199 Craniosynostosis-anal anomalies-porokeratosis syndrome 85201 Genitopatellar syndrome 85202 Keutel syndrome 85203 Acropectoral syndrome 85212 Fetal Gaucher disease 85273 X-linked intellectual disability, Abidi type 85274 Syndromic X-linked intellectual disability 7 85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome 85276 X-linked intellectual disability, Armfield type 85277 X-linked intellectual disability, Cantagrel type 85278 Christianson syndrome 85279 KDM5C-related syndromic X-linked intellectual disability 85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 85282 MEHMO syndrome 85283 X-linked intellectual disability, Miles-Carpenter type 85284 BRESEK syndrome 85285 X-linked intellectual disability, Schimke type 85286 X-linked intellectual disability, Shashi type 85287 X-linked intellectual disability, Siderius type 85288 X-linked intellectual disability, Stocco Dos Santos type 85290 X-linked intellectual disability, Wilson type 85292 X-linked spinocerebellar ataxia type 4 85293 X-linked intellectual disability, Cabezas type 85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome 85295 HSD10 disease, atypical type 85297 X-linked spinocerebellar ataxia type 3 85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome 85321 Deafness-intellectual disability syndrome, Martin-Probst type 85322 X-linked intellectual disability, Pai type 85323 X-linked intellectual disability, Seemanova type 85324 X-linked intellectual disability, Shrimpton type 85325 X-linked intellectual disability, Stevenson type 85326 X-linked intellectual disability, Stoll type 85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome 85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome 85332 X-linked intellectual disability-retinitis pigmentosa syndrome 85334 X-linked neurodegenerative syndrome, Bertini type 85335 Fried syndrome 85336 X-linked neurodegenerative syndrome, Hamel type 85338 X-linked intellectual disability-ataxia-apraxia syndrome 85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis 85410 Oligoarticular juvenile idiopathic arthritis 85414 Systemic-onset juvenile idiopathic arthritis 85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis 85436 Psoriasis-related juvenile idiopathic arthritis 85438 Enthesitis-related juvenile idiopathic arthritis 85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome 85443 AL amyloidosis 85445 AA amyloidosis 85446 Wild type ABeta2M amyloidosis 85447 ATTRV30M amyloidosis 85448 AGel amyloidosis 85450 Hereditary amyloidosis with primary renal involvement 85451 ATTRV122I amyloidosis 85453 X-linked reticulate pigmentary disorder 85458 Cerebral Amyloid Angiopathy 86309 DPAGT1-CDG 86788 X-linked severe congenital neutropenia 86789 Isolated patella aplasia/hypoplasia 86797 Atypical lichen myxedematosus 86812 POMT1-related limb-girdle muscular dystrophy R11 86813 Helicoid peripapillary chorioretinal degeneration 86814 Benign adult familial myoclonic epilepsy 86815 Aplasia of lacrimal and salivary glands 86816 Congenital analbuminemia 86817 Hemolytic anemia due to adenylate kinase deficiency 86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 86819 Atrichia with papular lesions 86820 Familial avascular necrosis of femoral head 86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome 86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome 86829 Chronic neutrophilic leukemia 86830 Chronic myeloproliferative disease, unclassifiable 86834 Juvenile myelomonocytic leukemia 86839 Myelodysplastic neoplasm with increased blasts 86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality 86843 Acute panmyelosis with myelofibrosis 86845 Acute myeloid leukaemia with myelodysplasia-related features 86849 Acute basophilic leukemia 86850 Myeloid sarcoma 86852 B-cell prolymphocytic leukemia 86854 Splenic marginal zone lymphoma 86855 Plasmacytoma 86861 Non-amyloid monoclonal immunoglobulin deposition disease 86864 Heavy chain disease 86867 Nodal marginal zone B-cell lymphoma 86869 Lymphomatoid granulomatosis 86870 Blastic plasmacytoid dendritic cell neoplasm 86871 T-cell prolymphocytic leukemia 86872 T-cell large granular lymphocyte leukemia 86873 Aggressive NK-cell leukemia 86875 Adult T-cell leukemia/lymphoma 86879 Extranodal nasal NK/T cell lymphoma 86880 Enteropathy-associated T-cell lymphoma 86882 Hepatosplenic T-cell lymphoma 86884 Subcutaneous panniculitis-like T-cell lymphoma 86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified 86886 Angioimmunoblastic T-cell lymphoma 86893 Nodular lymphocyte predominant Hodgkin lymphoma 86896 Histiocytic sarcoma 86897 Langerhans cell sarcoma 86900 Interdigitating dendritic cell sarcoma 86902 Follicular dendritic cell sarcoma 86903 Dendritic cell sarcoma not otherwise specified 86904 Methotrexate-associated lymphoproliferative disorders 86906 Hypothalamic hamartomas with gelastic seizures 86908 Idiopathic hemiconvulsion-hemiplegia syndrome 86909 Myoclonic epilepsy of infancy 86911 Epilepsy with myoclonic absences 86913 Myoclonic epilepsy in non-progressive encephalopathies 86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome 86915 Lymphedema-atrial septal defects-facial changes syndrome 86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome 86919 Keratosis palmaris et plantaris-clinodactyly syndrome 86920 Dermatopathia pigmentosa reticularis 86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type 87503 Mal de Meleda 87876 Sialidosis type 2 87884 Non-syndromic genetic deafness 88616 Autosomal recessive non-syndromic intellectual disability 88618 S-adenosylhomocysteine hydrolase deficiency 88619 Familial acute necrotizing encephalopathy 88620 Isolated congenital anosmia 88621 Ichthyosis-prematurity syndrome 88628 Posterior column ataxia-retinitis pigmentosa syndrome 88629 Tritanopia 88630 Terminal osseous dysplasia-pigmentary defects syndrome 88633 Superior limbic keratoconjunctivitis 88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates 88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome 88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy 88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 88644 Autosomal recessive ataxia, Beauce type 88659 Autosomal dominant progressive nephropathy with hypertension 88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor 88661 Amelogenesis imperfecta 88917 X-linked Alport syndrome 88918 Autosomal dominant Alport syndrome 88919 Autosomal recessive Alport syndrome 88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 88938 Pseudohypoaldosteronism type 2A 88939 Pseudohypoaldosteronism type 2B 88940 Pseudohypoaldosteronism type 2C 88949 MUC1-related autosomal dominant tubulointerstitial kidney disease 88950 UMOD-related autosomal dominant tubulointerstitial kidney disease 89838 Autosomal recessive generalized epidermolysis bullosa simplex 89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form 89843 Dystrophic epidermolysis bullosa pruriginosa 89844 Lissencephaly syndrome, Norman-Roberts type 89936 X-linked hypophosphatemia 89937 Autosomal dominant hypophosphatemic rickets 89938 Bartter syndrome type 4 90000 Erythema elevatum diutinum 90001 X-linked cone dysfunction syndrome with myopia 90002 Undifferentiated connective tissue syndrome 90003 Inflammatory pseudotumor of the liver 90020 Parkinson-dementia complex of Guam 90021 Radiation myelitis 90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency 90024 Deafness with labyrinthine aplasia, microtia, and microdontia 90026 Primary erythromelalgia 90030 Hemolytic anemia due to glutathione reductase deficiency 90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 90033 Autoimmune hemolytic anemia, warm type 90035 Paroxysmal cold hemoglobinuria 90036 Mixed-type autoimmune hemolytic anemia 90037 Drug-induced autoimmune hemolytic anemia 90038 Shiga toxin-associated hemolytic uremic syndrome 90039 Hemoglobin D disease 90041 Gaisböck syndrome 90042 Primary familial polycythemia 90044 Familial pseudohyperkalemia 90045 Hereditary folate malabsorption 90050 Retinopathy of prematurity 90051 Sepsis in premature infants 90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients 90053 Complications after hematopoietic stem cell transplantation 90056 Moderate and severe traumatic brain injury 90058 Spinal cord injury 90059 Sudden sensorineural hearing loss 90060 Diffuse alveolar hemorrhage 90062 Acute liver failure 90064 Acute peripheral arterial occlusion 90065 Acquired aneurysmal subarachnoid hemorrhage 90066 Pneumonia caused by Pseudomonas aeruginosa infection 90068 Cocaine intoxication 90069 Systemic monochloroacetate poisoning 90073 Hepatitis B reinfection following liver transplantation 90076 Partial deep dermal and full thickness burns 90078 Invasive infections due to vancomycin-resistant enterococci 90080 Scarring in glaucoma filtration surgical procedures 90081 AIDS wasting syndrome 90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome 90117 Hereditary motor and sensory neuropathy, Okinawa type 90118 Severe early-onset axonal neuropathy due to MFN2 deficiency 90119 Hereditary motor and sensory neuropathy with acrodystrophy 90120 Hereditary motor and sensory neuropathy type 6 90153 Mandibuloacral dysplasia with type A lipodystrophy 90154 Mandibuloacral dysplasia with type B lipodystrophy 90156 Centrifugal lipodystrophy 90157 Drug-induced localized lipodystrophy 90158 Idiopathic localized lipodystrophy 90159 Panniculitis-induced localized lipodystrophy 90160 Pressure-induced localized lipoatrophy 90186 Meige disease 90280 Chilblain lupus 90281 Discoid lupus erythematosus 90282 Hypertrophic or verrucous lupus erythematosus 90283 Lupus erythematosus tumidus 90285 Lupus erythematosus panniculitis 90289 Localized scleroderma 90291 Systemic sclerosis 90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome 90307 Parkes Weber syndrome 90308 Klippel-Trénaunay syndrome 90321 Cockayne syndrome type 1 90322 Cockayne syndrome type 2 90324 Cockayne syndrome type 3 90340 Blau syndrome 90342 Xeroderma pigmentosum variant 90348 Autosomal dominant cutis laxa 90349 Autosomal recessive cutis laxa type 1 90354 Brittle cornea syndrome 90362 Primary intestinal lymphangiectasia 90363 Secondary intestinal lymphangiectasia 90368 Hypotrichosis simplex of the scalp 90389 Telangiectasia macularis eruptiva perstans 90390 Anonychia-onychodystrophy syndrome 90393 Nodular lichen myxedematosus 90394 Discrete papular lichen myxedematosus 90395 Papular mucinosis of infancy 90396 Acral persistent papular mucinosis 90397 Self-healing papular mucinosis 90398 Localized lichen myxedematosus with mixed features of different subtypes 90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms 90400 Scleromyxedema without monoclonal gammopathy 90625 Rare X-linked non-syndromic sensorineural deafness type DFN 90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA 90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB 90641 Rare mitochondrial non-syndromic sensorineural deafness 90646 Deafness-hypogonadism syndrome 90647 Jervell and Lange-Nielsen syndrome 90650 Otopalatodigital syndrome type 1 90652 Otopalatodigital syndrome type 2 90653 Stickler syndrome type 1 90654 Stickler syndrome type 2 90658 Charcot-Marie-Tooth disease type 1E 90673 Hypothyroidism due to TSH receptor mutations 90674 Isolated thyroid-stimulating hormone deficiency 90695 Non-acquired panhypopituitarism 90790 Congenital lipoid adrenal hyperplasia due to STAR deficency 90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency 90797 Partial androgen insensitivity syndrome 91127 Adenovirus infection in immunocompromised patients 91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome 91131 DK1-CDG 91132 Ichthyosis-hypotrichosis syndrome 91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome 91138 Cryoglobulinemic vasculitis 91139 Simple cryoglobulinemia 91140 Unspecified juvenile idiopathic arthritis 91347 TSH-secreting pituitary adenoma 91348 Functioning gonadotropic adenoma 91349 Non-functioning pituitary adenoma 91350 Pituitary deficiency due to Rathke cleft cysts 91351 Pituitary dermoid and epidermoid cysts 91352 Germinoma of the central nervous system 91354 Pituitary deficiency due to empty sella turcica syndrome 91355 Sheehan syndrome 91358 Congenital esophageal diverticulum 91359 Chronic pneumonitis of infancy 91364 Non-specific interstitial pneumonia 91387 Familial thoracic aortic aneurysm and aortic dissection 91396 Isolated cryptophthalmia 91397 Isolated ankyloblepharon filiforme adnatum 91411 Congenital ptosis 91412 Marcus-Gunn syndrome 91413 Congenital Horner syndrome 91414 Pilomatrixoma 91416 Isolated congenital alacrima 91481 Ring dermoid of cornea 91483 Rieger anomaly 91489 Isolated congenital megalocornea 91490 Isolated congenital sclerocornea 91491 Congenital ectropion uveae 91492 Early onset non-syndromic cataract 91494 Macular coloboma-cleft palate-hallux valgus syndrome 91495 Persistent hyperplastic primary vitreous 91496 Snowflake vitreoretinal degeneration 91498 Familial congenital palsy of trochlear nerve 91500 Tubulointerstitial nephritis and uveitis syndrome 91546 Lyme disease 91547 Relapsing fever 92050 Congenital tufting enteropathy 93100 Renal agenesis, unilateral 93101 Renal hypoplasia 93108 Renal dysplasia 93109 Congenital megacalycosis 93110 Posterior urethral valve 93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease 93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 93126 Pauci-immune glomerulonephritis 93160 Hypocalcemic vitamin D-resistant rickets 93164 Transient pseudohypoaldosteronism 93172 Renal dysplasia, unilateral 93173 Renal dysplasia, bilateral 93176 Unilateral congenital megacalycosis 93177 Congenital bilateral megacalycosis 93256 Fragile X-associated tremor/ataxia syndrome 93258 Pfeiffer syndrome type 1 93259 Pfeiffer syndrome type 2 93260 Pfeiffer syndrome type 3 93262 Crouzon syndrome-acanthosis nigricans syndrome 93267 Cloverleaf skull-multiple congenital anomalies syndrome 93268 Short rib-polydactyly syndrome, Beemer-Langer type 93269 Short rib-polydactyly syndrome, Majewski type 93270 Short rib-polydactyly syndrome, Saldino-Noonan type 93271 Short rib-polydactyly syndrome, Verma-Naumoff type 93274 Thanatophoric dysplasia type 2 93276 Polyostotic fibrous dysplasia 93277 Monostotic fibrous dysplasia 93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type 93283 Spondyloepiphyseal dysplasia, Kimberley type 93284 Spondyloepiphyseal dysplasia tarda 93292 Adenoma of pancreas 93293 Okihiro syndrome 93296 Achondrogenesis type 2 93297 Hypochondrogenesis 93298 Achondrogenesis type 1B 93299 Achondrogenesis type 1A 93302 Brachyolmia, Maroteaux type 93304 Autosomal dominant brachyolmia 93307 Multiple epiphyseal dysplasia type 4 93308 Multiple epiphyseal dysplasia type 1 93311 Multiple epiphyseal dysplasia type 5 93314 Spondylometaphyseal dysplasia, Kozlowski type 93315 Spondylometaphyseal dysplasia, 'corner fracture' type 93316 Spondylometaphyseal dysplasia, Schmidt type 93317 Spondylometaphyseal dysplasia, Sedaghatian type 93320 Isolated ulnar hemimelia 93321 Isolated radial hemimelia 93322 Isolated tibial hemimelia 93323 Isolated fibular hemimelia 93324 Autosomal recessive Kenny-Caffey syndrome 93325 Autosomal dominant Kenny-Caffey syndrome 93328 Autosomal dominant omodysplasia 93329 Autosomal recessive omodysplasia 93333 Pelviscapular dysplasia 93334 Postaxial polydactyly type A 93335 Postaxial polydactyly type B 93336 Polydactyly of a triphalangeal thumb 93337 Polydactyly of an index finger 93338 Polysyndactyly 93339 Polydactyly of a biphalangeal thumb and/or hallux 93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 93347 Anauxetic dysplasia 93349 X-linked spondyloepimetaphyseal dysplasia 93351 Spondyloepimetaphyseal dysplasia, Irapa type 93352 Spondyloepimetaphyseal dysplasia, Shohat type 93356 Spondyloepimetaphyseal dysplasia, Missouri type 93357 SPONASTRIME dysplasia 93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type 93372 Familial hypocalciuric hypercalcemia type 1 93382 Brachydactyly type A6 93383 Brachydactyly type B 93384 Brachydactyly type C 93387 Brachydactyly type E 93388 Brachydactyly type A1 93394 Brachydactyly type A4 93396 Brachydactyly type A2 93397 Brachydactyly type A7 93398 Genochondromatosis type 2 93399 Juvenile sialidosis type 2 93400 Congenital sialidosis type 2 93402 Syndactyly type 1 93403 Syndactyly type 2 93404 Syndactyly type 3 93405 Syndactyly type 4 93406 Syndactyly type 5 93409 Brachydactyly-syndactyly, Zhao type 93473 Hurler syndrome 93474 Scheie syndrome 93476 Hurler-Scheie syndrome 93552 Pediatric systemic lupus erythematosus 93554 Mixed cryoglobulinemia type II 93555 Mixed cryoglobulinemia type III 93556 Heavy chain deposition disease 93557 Light and heavy chain deposition disease 93558 Light chain deposition disease 93560 AApoAI amyloidosis 93561 ALys amyloidosis 93562 AFib amyloidosis 93568 Juvenile polymyositis 93571 Dense deposit disease 93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies 93583 Congenital thrombotic thrombocytopenic purpura 93585 Immune-mediated thrombotic thrombocytopenic purpura 93589 Late-onset nephronophthisis 93591 Infantile nephronophthisis 93592 Juvenile nephronophthisis 93598 Primary hyperoxaluria type 1 93599 Primary hyperoxaluria type 2 93600 Primary hyperoxaluria type 3 93601 Xanthinuria type I 93602 Xanthinuria type II 93605 Bartter syndrome type 3 93606 Nephrogenic syndrome of inappropriate antidiuresis 93607 Autosomal recessive proximal renal tubular acidosis 93608 Autosomal dominant distal renal tubular acidosis 93610 Distal renal tubular acidosis with anemia 93612 Cystinuria type A 93613 Cystinuria type B 93616 Hemoglobin H disease 93622 Dent disease type 1 93623 Dent disease type 2 93672 Juvenile dermatomyositis 93685 Unicentric Castleman disease 93921 Full schwannomatosis 93924 Lobar holoprosencephaly 93925 Alobar holoprosencephaly 93926 Midline interhemispheric variant of holoprosencephaly 93928 Isolated epispadias 93929 Cloacal exstrophy 93930 Bladder exstrophy 93932 FG syndrome type 1 93938 Laryngotracheoesophageal cleft type 1 93939 Laryngotracheoesophageal cleft type 2 93940 Laryngotracheoesophageal cleft type 3 93941 Laryngotracheoesophageal cleft type 4 93945 X-linked intellectual disability, Porteous type 93946 Hamel cerebro-palato-cardiac syndrome 93947 X-linked intellectual disability, Golabi-Ito-Hall type 93950 X-linked intellectual disability, Sutherland-Haan type 93952 X-linked intellectual disability, Hedera type 93953 Familial thyroglossal duct cyst 93958 Oromandibular dystonia 93964 Blepharospasm-oromandibular dystonia syndrome 93969 Open spinal dysraphism with a myelomeningocele 93976 Anotia 94056 Isolated humero-ulnar synostosis 94058 Neovascular glaucoma 94059 Uremic pruritus 94063 12q14 microdeletion syndrome 94064 Deafness-infertility syndrome 94065 15q24 microdeletion syndrome 94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 94068 Spondyloepiphyseal dysplasia congenita 94080 Non-functioning paraganglioma 94083 Partington syndrome 94086 Blue diaper syndrome 94087 Cytophagic histiocytic panniculitis 94088 Hereditary renal hypouricemia 94089 Pseudohypoparathyroidism type 1B 94090 Pseudohypoparathyroidism type 2 94091 Mills syndrome 94093 Neuroleptic malignant syndrome 94122 Cerebellar ataxia, Cayman type 94124 Spinocerebellar ataxia with axonal neuropathy type 1 94125 Recessive mitochondrial ataxia syndrome 94147 Spinocerebellar ataxia type 7 94150 Anonychia congenita totalis 95159 Hepatoerythropoietic porphyria 95232 Lissencephaly due to LIS1 mutation 95409 Acute adrenal insufficiency 95427 Secondary short bowel syndrome 95428 COG8-CDG 95429 Angioma serpiginosum 95430 Congenital tracheomalacia 95431 Twin to twin transfusion syndrome 95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome 95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome 95443 Mesocardia 95448 Congenital aortic valve atresia 95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum 95457 Tricuspid valve agenesis 95459 Congenital tricuspid stenosis 95461 Straddling or overriding tricuspid valve 95462 Accessory tricuspid valve tissue 95465 Cleft mitral valve 95474 Double-orifice mitral valve 95486 Premature closure of the arterial duct 95491 Congenital coronary artery aneurysm 95494 Combined pituitary hormone deficiencies, genetic forms 95496 Pituitary stalk interruption syndrome 95507 Congenital anomaly of hepatic vein 95512 Adenohypophysitis 95513 Panhypophysitis 95613 Pituitary apoplexy 95619 Post-traumatic pituitary deficiency 95626 Acquired arginine vasopressin deficiency 95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 95702 X-linked adrenal hypoplasia congenita 95706 Non-syndromic posterior hypospadias 95707 Idiopathic isolated micropenis 95712 Thyroid ectopia 95713 Athyreosis 95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies 95716 Familial thyroid dyshormonogenesis 95717 Idiopathic congenital hypothyroidism 95719 Thyroid hemiagenesis 95720 Thyroid hypoplasia 95854 Levocardia 96055 Tetrasomy 21 96059 Mosaic trisomy 4 96060 Mosaic trisomy 5 96061 Mosaic trisomy 8 96063 Mosaic trisomy 10 96068 Mosaic trisomy 22 96069 Distal duplication 1p36 96070 Distal duplication 2p 96071 Distal duplication 3p 96072 4p16.3 microduplication syndrome 96074 Distal duplication 7p 96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication 96078 16p13.3 microduplication syndrome 96092 8p inverted duplication/deletion syndrome 96094 Distal duplication 2q 96095 3q26 microduplication syndrome 96096 Distal duplication 4q 96097 Distal duplication 5q 96098 Distal duplication 6q 96100 Distal duplication 8q 96101 Distal duplication 9q 96102 Distal duplication 10q 96103 Distal duplication 11q 96105 Distal duplication 13q 96106 Distal duplication 16q 96107 Distal duplication 20q 96109 Distal duplication 22q 96112 Non-distal duplication 9q 96121 7q11.23 microduplication syndrome 96123 Monosomy 22 96125 Distal deletion 6p 96126 Distal deletion 7p 96129 Distal deletion 19p 96145 Distal deletion 4q 96147 Kleefstra syndrome due to 9q34 microdeletion 96148 Distal deletion 10q 96149 Distal deletion 12q 96150 Distal deletion 14q 96160 Non-distal deletion 12q 96167 Recombinant 8 syndrome 96168 Monosomy 13q34 96169 Koolen-De Vries syndrome 96170 Emanuel syndrome 96171 Ring chromosome 2 syndrome 96172 Ring chromosome 3 syndrome 96173 Ring chromosome 9 syndrome 96175 Ring chromosome 11 syndrome 96176 Ring chromosome 13 syndrome 96177 Ring chromosome 15 syndrome 96178 Ring chromosome 16 syndrome 96179 Maternal uniparental disomy of chromosome 2 96180 Maternal uniparental disomy of chromosome 4 96181 Maternal uniparental disomy of chromosome 6 96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 96183 Maternal uniparental disomy of chromosome 9 96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 96185 Maternal uniparental disomy of chromosome 16 96186 Maternal uniparental disomy of chromosome 20 96187 Maternal uniparental disomy of chromosome 21 96188 Maternal uniparental disomy of chromosome 22 96190 Paternal uniparental disomy of chromosome 5 96191 Paternal uniparental disomy of chromosome 6 96192 Paternal uniparental disomy of chromosome 7 96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 96194 Paternal uniparental disomy of chromosome 20 96195 Paternal uniparental disomy of chromosome 21 96201 X small rings 96253 Cushing disease 96263 48,XXXY syndrome 96264 49,XXXXY syndrome 96265 Leydig cell hypoplasia due to complete LH resistance 96266 Leydig cell hypoplasia due to partial LH resistance 96269 Isolated partial vaginal agenesis 96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 97214 Eisenmenger syndrome 97229 Riboflavin transporter deficiency 97230 Solar urticaria 97232 Fingerprint body myopathy 97234 Glycogen storage disease due to phosphoglycerate mutase deficiency 97238 Rippling muscle disease 97239 Reducing body myopathy 97240 Zebra body myopathy 97244 Rigid spine syndrome 97249 Pontocerebellar hypoplasia type 3 97252 Mega-cisterna magna 97261 GRFoma 97278 PPoma 97279 Insulinoma 97280 Glucagonoma 97282 VIPoma 97283 Somatostatinoma 97285 Thyroid lymphoma 97286 Carney-Stratakis syndrome 97287 Bronchial neuroendocrine tumor 97289 Thymic neuroendocrine tumor 97290 Familial papillary thyroid carcinoma with renal papillary neoplasia 97292 Cardiogenic shock 97297 Bohring-Opitz syndrome 97330 Thoracic outlet syndrome 97332 Kienbock disease 97335 Osgood-Schlatter disease 97336 Panner disease 97337 Sinding-Larsen-Johansson disease 97338 Melanoma of soft tissue 97339 Dural sinus malformation 97340 Hunter-McAlpine syndrome 97341 Persistent placoid maculopathy 97345 ABri amyloidosis 97346 ADan amyloidosis 97349 Postencephalitic parkinsonism 97352 Pellagra 97353 Dementia pugilistica 97355 Caribbean parkinsonism 97360 Robinow syndrome 97361 Renal hypoplasia, unilateral 97362 Renal hypoplasia, bilateral 97363 Unilateral multicystic dysplastic kidney 97364 Bilateral multicystic dysplastic kidney 97366 Multiloculated renal cyst 97367 Renal tubular dysgenesis due to twin-twin transfusion 97368 Drug-related renal tubular dysgenesis 97369 Renal tubular dysgenesis of genetic origin 97548 Right sided atrial isomerism 97560 Primary membranous glomerulonephritis 97563 Pauci-immune glomerulonephritis with ANCA 97564 Pauci-immune glomerulonephritis without ANCA 97566 Non-amyloid fibrillary glomerulopathy 97567 Immunotactoid glomerulopathy 97598 Congenital renal artery stenosis 97678 Maternal uniparental disomy of chromosome 13 97685 17q11 microdeletion syndrome 98267 Genetic non-syndromic obesity 98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 98606 Syndromic orbital border hypoplasia 98619 Rare isolated myopia 98673 Autosomal dominant optic atrophy, classic form 98676 Autosomal recessive isolated optic atrophy 98686 Congenital trochlear nerve palsy 98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 98755 Spinocerebellar ataxia type 1 98756 Spinocerebellar ataxia type 2 98757 Spinocerebellar ataxia type 3 98758 Spinocerebellar ataxia type 6 98759 Spinocerebellar ataxia type 17 98760 Spinocerebellar ataxia type 8 98761 Spinocerebellar ataxia type 10 98762 Spinocerebellar ataxia type 12 98763 Spinocerebellar ataxia type 14 98764 Spinocerebellar ataxia type 27 98765 Spinocerebellar ataxia type 4 98766 Spinocerebellar ataxia type 5 98767 Spinocerebellar ataxia type 11 98768 Spinocerebellar ataxia type 13 98769 Spinocerebellar ataxia type 15/16 98771 Spinocerebellar ataxia type 18 98772 Spinocerebellar ataxia type 19/22 98773 Spinocerebellar ataxia type 21 98784 Autosomal dominant nocturnal frontal lobe epilepsy 98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 98793 Prader-Willi syndrome due to paternal 15q11q13 deletion 98794 Angelman syndrome due to maternal 15q11q13 deletion 98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 98797 Isochromosomy Yp 98798 Isochromosomy Yq 98805 Primary dystonia, DYT4 type 98806 Primary dystonia, DYT6 type 98807 Primary dystonia, DYT13 type 98808 Autosomal dominant dopa-responsive dystonia 98809 Paroxysmal kinesigenic dyskinesia 98810 Paroxysmal non-kinesigenic dyskinesia 98811 Paroxysmal exertion-induced dyskinesia 98813 Hypohidrotic ectodermal dysplasia with immunodeficiency 98815 Benign childhood occipital epilepsy, Panayiotopoulos type 98816 Benign childhood occipital epilepsy, Gastaut type 98818 Landau-Kleffner syndrome 98819 Familial temporal lobe epilepsy 98820 Familial focal epilepsy with variable foci 98823 Chronic myelomonocytic leukemia 98824 Atypical chronic myeloid leukemia 98825 Unclassified myelodysplastic/myeloproliferative disease 98826 Myelodysplastic neoplasm with low blasts 98827 Unclassified myelodysplastic syndrome 98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 98831 Acute myeloid leukemia with 11q23 abnormalities 98832 Acute myeloid leukemia with minimal differentiation 98833 Acute myeloblastic leukemia without maturation 98834 Acute myeloblastic leukemia with maturation 98835 Acute undifferentiated leukemia 98838 Primary mediastinal large B-cell lymphoma 98839 Intravascular large B-cell lymphoma 98841 Anaplastic large cell lymphoma 98842 Lymphomatoid papulosis 98843 Classic Hodgkin lymphoma, nodular sclerosis type 98844 Classic Hodgkin lymphoma, mixed cellularity type 98845 Classic Hodgkin lymphoma, lymphocyte-rich type 98846 Classic Hodgkin lymphoma, lymphocyte-depleted type 98848 Indolent systemic mastocytosis 98849 Systemic mastocytosis with associated hematologic neoplasm 98850 Aggressive systemic mastocytosis 98851 Mast cell leukemia 98852 Desquamative interstitial pneumonia 98853 Autosomal dominant Emery-Dreifuss muscular dystrophy 98855 Autosomal recessive Emery-Dreifuss muscular dystrophy 98856 Charcot-Marie-Tooth disease type 2B1 98863 X-linked Emery-Dreifuss muscular dystrophy 98868 Southeast Asian ovalocytosis 98869 Congenital dyserythropoietic anemia type I 98870 Congenital dyserythropoietic anemia type III 98871 Transient erythroblastopenia of childhood 98872 Primary acquired pure red cell aplasia 98873 Congenital dyserythropoietic anemia type II 98878 Hemophilia A 98879 Hemophilia B 98880 Familial afibrinogenemia 98881 Familial dysfibrinogenemia 98885 Bleeding diathesis due to glycoprotein VI deficiency 98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency 98889 Bilateral perisylvian polymicrogyria 98890 Early-onset X-linked optic atrophy 98892 Periventricular nodular heterotopia 98893 Congenital muscular dystrophy type 1B 98895 Becker muscular dystrophy 98896 Duchenne muscular dystrophy 98897 Oculopharyngodistal myopathy 98902 Amish nemaline myopathy 98904 Congenital myopathy with excess of thin filaments 98905 Congenital multicore myopathy with external ophthalmoplegia 98907 Neutral lipid storage disease with ichthyosis 98908 Neutral lipid storage disease with myopathy 98909 Desminopathy 98911 Distal myotilinopathy 98912 Late-onset distal myopathy, Markesbery-Griggs type 98913 Postsynaptic congenital myasthenic syndromes 98914 Presynaptic congenital myasthenic syndromes 98915 Synaptic congenital myasthenic syndromes 98916 Acute inflammatory demyelinating polyradiculoneuropathy 98917 Acute motor and sensory axonal neuropathy 98918 Acute motor axonal neuropathy 98919 Miller Fisher syndrome 98920 Spinal muscular atrophy with respiratory distress type 1 98922 Blake pouch cyst 98933 Multiple system atrophy, parkinsonian type 98934 Huntington disease-like 2 98938 Colobomatous microphthalmia 98942 Coloboma of choroid and retina 98943 Coloboma of eye lens 98944 Coloboma of iris 98945 Coloboma of macula 98946 Coloboma of eyelid 98947 Coloboma of optic disc 98948 Congenital symblepharon 98949 Complete cryptophthalmia 98950 Partial cryptophthalmia 98951 Inverse Marcus-Gunn phenomenon 98954 Meesmann corneal dystrophy 98955 Lisch epithelial corneal dystrophy 98956 Epithelial basement membrane dystrophy 98957 Gelatinous drop-like corneal dystrophy 98958 Climatic droplet keratopathy 98959 Subepithelial mucinous corneal dystrophy 98960 Thiel-Behnke corneal dystrophy 98961 Reis-Bücklers corneal dystrophy 98962 Granular corneal dystrophy type I 98963 Granular corneal dystrophy type II 98964 Lattice corneal dystrophy type I 98967 Schnyder corneal dystrophy 98969 Macular corneal dystrophy 98970 Fleck corneal dystrophy 98971 Posterior amorphous corneal dystrophy 98972 Central cloudy dystrophy of François 98973 Posterior polymorphous corneal dystrophy 98974 Fuchs endothelial corneal dystrophy 98976 Congenital glaucoma 98977 Juvenile glaucoma 98978 Axenfeld anomaly 98979 Chandler syndrome 98980 Cogan-Reese syndrome 98981 Essential iris atrophy 98984 Pulverulent cataract 98985 Early-onset sutural cataract 98988 Early-onset anterior polar cataract 98989 Cerulean cataract 98990 Coralliform cataract 98991 Early-onset nuclear cataract 98992 Early-onset partial cataract 98993 Early-onset posterior polar cataract 98994 Total early-onset cataract 98995 Early-onset zonular cataract 99000 Adult-onset foveomacular vitelliform dystrophy 99001 Butterfly-shaped pigment dystrophy 99002 Reticular dystrophy of the retinal pigment epithelium 99003 Multifocal pattern dystrophy simulating fundus flavimaculatus 99004 Fundus pulverulentus 99013 Spastic paraplegia type 7 99014 X-linked Charcot-Marie-Tooth disease type 5 99015 Spastic paraplegia type 2 99027 Adult-onset autosomal dominant leukodystrophy 99042 Congenitally uncorrected transposition of the great arteries with coarctation 99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 99045 Double outlet right ventricle with subpulmonary ventricular septal defect 99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect 99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome 99049 Pulmonary artery coming from patent ductus arteriosus 99050 Abnormal origin of right or left pulmonary artery from the aorta 99051 Discrete fixed membranous subaortic stenosis 99052 Discrete fibromuscular subaortic stenosis 99053 Tunnel subaortic stenosis 99054 Valvular pulmonary stenosis 99055 Congenital anomaly of the tricuspid valve chordae 99056 Parachute tricuspid valve 99057 Congenital mitral stenosis 99058 Hypoplasia of the mitral valve annulus 99059 Congenital supravalvular mitral ring 99060 Congenital unguarded mitral orifice 99061 Accessory mitral valve tissue 99062 Mitral valve agenesis 99063 Shone complex 99064 Straddling and/or overriding mitral valve 99067 Complete atrioventricular septal defect with ventricular hypoplasia 99068 Complete atrioventricular septal defect-tetralogy of Fallot 99070 Aorto-right ventricular tunnel 99071 Aorto-left ventricular tunnel 99072 Congenital patent ductus arteriosus aneurysm 99075 Encircling double aortic arch 99076 Persistent fifth aortic arch 99077 Kommerell diverticulum 99078 Neuhauser anomaly 99079 Cervical aortic arch 99081 Right aortic arch 99082 Dysphagia lusoria 99083 Pulmonary artery hypoplasia 99084 Peripheral pulmonary stenosis 99087 Coronary ostial stenosis or atresia 99089 Abnormal number of coronary ostia 99090 Malposition of a coronary ostium 99092 Interventricular septum aneurysm 99094 Laubry-Pezzi syndrome 99095 Congenital Gerbode defect 99098 Cor triatriatum dexter 99099 Cor triatriatum sinister 99100 Juxtaposition of the atrial appendages 99101 Ectasia of the right atrial appendage 99102 Ectasia of the left atrial appendage 99103 Atrial septal defect, ostium secundum type 99104 Atrial septal defect, coronary sinus type 99105 Atrial septal defect, sinus venosus type 99106 Atrial septal defect, ostium primum type 99107 Atrial septal aneurysm 99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium 99110 Right superior vena cava connecting to left-sided atrium 99111 Persistent left superior vena cava connecting to the roof of left-sided atrium 99112 Absence of innominate vein 99113 Subaortic course of innominate vein 99114 Agenesis of the superior vena cava 99117 Coronary sinus stenosis 99118 Coronary sinus atresia 99119 Right inferior vena cava connecting to left-sided atrium 99120 Persistent eustachian valve 99121 Azygos continuation of the inferior vena cava 99122 Congenital stenosis of the inferior vena cava 99123 Inferior vena cava interruption without azygos continuation 99124 Congenital partial pulmonary venous return anomaly 99125 Congenital total pulmonary venous return anomaly 99126 Congenital pulmonary vein atresia 99129 Congenital complete agenesis of pericardium 99130 Congenital partial agenesis of pericardium 99131 Pleuro-pericardial cyst 99135 6-phosphogluconate dehydrogenase deficiency 99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 99139 Unstable hemoglobin disease 99141 Lymphedema-posterior choanal atresia syndrome 99147 Acquired von Willebrand syndrome 99169 Epiblepharon 99170 Tarsal kink syndrome 99171 Isolated congenital ectropion 99172 Euryblepharon 99176 Congenital eyelid retraction 99177 Isolated distichiasis 99179 Kandori fleck retina 99226 Monosomy X 99228 Mosaic monosomy X 99324 Paternal uniparental disomy of chromosome 13 99329 48,XYYY syndrome 99330 49,XYYYY syndrome 99361 Familial medullary thyroid carcinoma 99413 Turner syndrome due to structural X chromosome anomalies 99429 Complete androgen insensitivity syndrome 99642 Spondyloepimetaphyseal dysplasia, Handigodu type 99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 99657 Primary dystonia, DYT2 type 99672 Fried's tooth and nail syndrome 99688 Dermotrichic syndrome 99701 Mesial temporal lobe epilepsy with hippocampal sclerosis 99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome 99710 Punctate acrokeratoderma freckle-like pigmentation 99718 Leber plus disease 99725 Pituitary gigantism 99731 Isolated sulfite oxidase deficiency 99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency 99734 Myotonia fluctuans 99735 Myotonia permanens 99736 Acetazolamide-responsive myotonia 99741 King-Denborough syndrome 99742 Amish lethal microcephaly 99745 Typhoid 99748 Pontiac fever 99749 Kostmann syndrome 99750 Atypical progressive supranuclear palsy syndrome 99756 Alveolar rhabdomyosarcoma 99757 Embryonal rhabdomyosarcoma 99771 Bifid uvula 99772 Cleft velum 99776 Mosaic trisomy 9 99789 Dentin dysplasia type I 99791 Dentin dysplasia type II 99792 Dentin dysplasia-sclerotic bones syndrome 99796 Subcortical band heterotopia 99797 Anodontia 99798 Oligodontia 99802 Hemimegalencephaly 99803 Haddad syndrome 99806 Oculootodental syndrome 99807 PEHO-like syndrome 99810 Familial porencephaly 99811 Neuronal intestinal pseudoobstruction 99812 LIG4 syndrome 99818 Turcot syndrome with polyposis 99819 Familial gestational hyperthyroidism 99824 Lassa fever 99825 Nipah virus disease 99826 Marburg hemorrhagic fever 99827 Crimean-Congo hemorrhagic fever 99828 Dengue fever 99829 Yellow fever 99832 Resistance to thyrotropin-releasing hormone syndrome 99842 Leukocyte adhesion deficiency type I 99843 Leukocyte adhesion deficiency type II 99844 Leukocyte adhesion deficiency type III 99845 Genetic recurrent myoglobinuria 99846 Autosomal dominant myoglobinuria 99849 Glycogen storage disease due to muscle beta-enolase deficiency 99852 Ravine syndrome 99853 Ovarioleukodystrophy 99854 Cree leukoencephalopathy 99856 Primary syringomyelia 99857 Secondary syringomyelia 99858 Idiopathic syringomyelia 99860 Precursor B-cell acute lymphoblastic leukemia 99861 Precursor T-cell acute lymphoblastic leukemia 99865 Spermatocytic seminoma 99867 Thymoma 99868 Thymic carcinoma 99869 Thymic neuroendocrine carcinoma 99879 Familial isolated hyperparathyroidism 99880 Hyperparathyroidism-jaw tumor syndrome 99885 Isolated permanent neonatal diabetes mellitus 99886 Transient neonatal diabetes mellitus 99887 Acute megakaryoblastic leukemia in children with Down syndrome 99889 Cushing syndrome due to ectopic ACTH secretion 99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 99901 Acyl-CoA dehydrogenase 9 deficiency 99903 Spirillary rat-bite fever 99905 Streptobacillary rat-bite fever 99906 Farmer's lung disease 99907 House allergic alveolitis 99908 Pigeon-breeder lung disease 99912 Ovarian dysgerminoma 99914 Gynandroblastoma 99915 Malignant granulosa cell tumor of the ovary 99916 Malignant Sertoli-Leydig cell tumor of the ovary 99917 Theca steroid-producing cell malignant tumor of ovary, not further specified 99918 Streptococcal toxic-shock syndrome 99919 Staphylococcal toxic-shock syndrome 99920 Acute graft versus host disease 99921 Chronic graft versus host disease 99922 Ocular cicatricial pemphigoid 99925 Invasive mole 99926 Gestational choriocarcinoma 99927 Hydatidiform mole 99928 Placental site trophoblastic tumor 99930 Secondary pulmonary hemosiderosis 99931 Idiopathic pulmonary hemosiderosis 99932 Heiner syndrome 99933 Pleuropulmonary blastoma type 1 99934 Pleuropulmonary blastoma type 2 99935 Pleuropulmonary blastoma type 3 99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B 99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C 99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D 99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E 99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F 99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G 99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I 99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J 99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K 99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L 99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 99948 Charcot-Marie-Tooth disease type 4A 99949 Charcot-Marie-Tooth disease type 4C 99950 Charcot-Marie-Tooth disease type 4D 99951 Charcot-Marie-Tooth disease type 4E 99952 Charcot-Marie-Tooth disease type 4F 99953 Charcot-Marie-Tooth disease type 4G 99954 Charcot-Marie-Tooth disease type 4H 99955 Charcot-Marie-Tooth disease type 4B1 99956 Charcot-Marie-Tooth disease type 4B2 99960 Benign recurrent intrahepatic cholestasis type 1 99961 Benign recurrent intrahepatic cholestasis type 2 99965 O'Sullivan-McLeod syndrome 99966 Atypical teratoid rhabdoid tumor 99967 Myxoid/round cell liposarcoma 99969 Pleomorphic liposarcoma 99970 Dedifferentiated liposarcoma 99971 Well-differentiated liposarcoma 99976 Adenocarcinoma of the esophagus 99977 Squamous cell carcinoma of the esophagus 99978 Klatskin tumor 99981 Apnea of prematurity 99989 Intermediate DEND syndrome 99990 Brill-Zinsser disease 99991 Relapsing epidemic typhus 99994 Complex regional pain syndrome type 2 99995 Complex regional pain syndrome type 1 100000 Reticular perineurioma 100001 Sclerosing perineurioma 100002 Extraneural perineurioma 100003 Intraneural perineurioma 100006 ABeta amyloidosis, Dutch type 100008 ACys amyloidosis 100011 Lissencephaly with cerebellar hypoplasia type A 100012 Lissencephaly with cerebellar hypoplasia type B 100013 Lissencephaly with cerebellar hypoplasia type C 100014 Lissencephaly with cerebellar hypoplasia type D 100015 Lissencephaly with cerebellar hypoplasia type E 100016 Lissencephaly with cerebellar hypoplasia type F 100019 Myelodysplastic neoplasm with increased blasts type 1 100020 Myelodysplastic neoplasm with increased blasts type 2 100021 Primary plasmacytoma of the bone 100022 Extramedullary soft tissue plasmacytoma 100024 Mu-heavy chain disease 100025 Alpha-heavy chain disease 100026 Gamma-heavy chain disease 100031 Hypoplastic amelogenesis imperfecta 100032 Hypocalcified amelogenesis imperfecta 100033 Hypomaturation amelogenesis imperfecta 100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 100035 Solitary necrotic nodule of the liver 100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 100047 Esophageal duplication cyst 100048 Tubular duplication of the esophagus 100050 Hereditary angioedema type 1 100051 Hereditary angioedema type 2 100054 F12-related hereditary angioedema with normal C1Inh 100055 Acquired angioedema type 2 100056 Acquired angioedema type 1 100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema 100067 Waterhouse-Friderichsen syndrome 100069 Semantic dementia 100070 Progressive non-fluent aphasia 100071 Mosaic trisomy 3 100073 Neurogenic thoracic outlet syndrome 100075 Neuroendocrine tumor of stomach 100078 Ileal neuroendocrine tumor 100079 Neuroendocrine neoplasm of appendix 100080 Neuroendocrine tumor of the colon 100081 Neuroendocrine tumor of the rectum 100082 Neuroendocrine tumor of anal canal 100083 Laryngeal neuroendocrine tumor 100084 Middle ear neuroendocrine tumor 100085 Primary hepatic neuroendocrine carcinoma 100086 Gallbladder neuroendocrine tumor 100093 Carcinoid syndrome 100924 Porphyria due to ALA dehydratase deficiency 100973 FRAXE intellectual disability 100974 FRAXF syndrome 100976 Bathing suit ichthyosis 100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome 100984 Autosomal dominant spastic paraplegia type 3 100985 Autosomal dominant spastic paraplegia type 4 100986 Autosomal recessive spastic paraplegia type 5A 100988 Autosomal dominant spastic paraplegia type 6 100989 Autosomal dominant spastic paraplegia type 8 100991 Autosomal dominant spastic paraplegia type 10 100993 Autosomal dominant spastic paraplegia type 12 100994 Autosomal dominant spastic paraplegia type 13 100995 Autosomal recessive spastic paraplegia type 14 100996 Autosomal recessive spastic paraplegia type 15 100997 X-linked spastic paraplegia type 16 100998 Autosomal dominant spastic paraplegia type 17 100999 Autosomal dominant spastic paraplegia type 19 101000 Autosomal recessive spastic paraplegia type 20 101001 Autosomal recessive spastic paraplegia type 21 101003 Autosomal recessive spastic paraplegia type 23 101004 Autosomal recessive spastic paraplegia type 24 101005 Autosomal recessive spastic paraplegia type 25 101006 Autosomal recessive spastic paraplegia type 26 101007 Autosomal recessive spastic paraplegia type 27 101008 Autosomal recessive spastic paraplegia type 28 101009 Autosomal dominant spastic paraplegia type 29 101010 Autosomal spastic paraplegia type 30 101011 Autosomal dominant spastic paraplegia type 31 101016 Romano-Ward syndrome 101023 Cleft hard palate 101028 Transaldolase deficiency 101029 Sub-cortical nodular heterotopia 101030 Subependymal nodular heterotopia 101039 Female restricted epilepsy with intellectual disability 101041 Familial hypofibrinogenemia 101043 Congenital aortic valve dysplasia 101046 Autosomal dominant epilepsy with auditory features 101049 Familial hypocalciuric hypercalcemia type 2 101050 Familial hypocalciuric hypercalcemia type 3 101063 Situs inversus totalis 101068 Congenital stromal corneal dystrophy 101070 Bilateral frontoparietal polymicrogyria 101071 Unilateral hemispheric polymicrogyria 101075 X-linked Charcot-Marie-Tooth disease type 1 101076 X-linked Charcot-Marie-Tooth disease type 2 101077 X-linked Charcot-Marie-Tooth disease type 3 101078 X-linked Charcot-Marie-Tooth disease type 4 101081 Charcot-Marie-Tooth disease type 1A 101082 Charcot-Marie-Tooth disease type 1B 101083 Charcot-Marie-Tooth disease type 1C 101084 Charcot-Marie-Tooth disease type 1D 101085 Charcot-Marie-Tooth disease type 1F 101088 X-linked hyper-IgM syndrome 101089 Hyper-IgM syndrome type 2 101090 Hyper-IgM syndrome type 3 101091 Hyper-IgM syndrome type 4 101092 Hyper-IgM syndrome type 5 101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 101101 Charcot-Marie-Tooth disease type 2B2 101102 Charcot-Marie-Tooth disease type 2H 101104 Marin-Amat syndrome 101108 Spinocerebellar ataxia type 23 101109 Spinocerebellar ataxia type 28 101110 Spinocerebellar ataxia type 20 101111 Spinocerebellar ataxia type 25 101112 Spinocerebellar ataxia type 26 101150 Autosomal recessive dopa-responsive dystonia 101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome 101330 Porphyria cutanea tarda 101334 African tick typhus 101351 Familial isolated congenital asplenia 101685 Rare non-syndromic intellectual disability 101932 Anomaly of the mitral subvalvular apparatus 102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent 102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor 102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 103907 Chronic diarrhea due to glucoamylase deficiency 103908 Congenital sodium diarrhea 103909 Trehalase deficiency 103910 Congenital enterocyte heparan sulfate deficiency 103918 Tropical pancreatitis 103920 Undetermined colitis 104075 Adenocarcinoma of the small intestine 104076 Leiomyosarcoma of small intestine 104077 Myopathic intestinal pseudoobstruction 104078 Unclassified intestinal pseudoobstruction 137577 Neonatal hypoxic and ischemic brain injury 137583 Vulvar intraepithelial neoplasia 137593 Infectious epithelial keratitis 137596 Neurotrophic keratopathy 137599 Herpes simplex virus stromal keratitis 137602 Corneal endotheliitis 137605 Legius syndrome 137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 137617 Nephrogenic systemic fibrosis 137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome 137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 137628 Cardiac anomalies-heterotaxy syndrome 137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 137634 Overgrowth-macrocephaly-facial dysmorphism syndrome 137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome 137667 Capillary malformation-arteriovenous malformation 137672 Pellucid marginal degeneration 137675 Histiocytoid cardiomyopathy 137678 Spondyloepiphyseal dysplasia with metatarsal shortening 137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 137686 Asherman syndrome 137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 137754 Aminoacylase 1 deficiency 137776 Lethal congenital contracture syndrome type 2 137783 Lethal congenital contracture syndrome type 3 137810 Nodular cutaneous amyloidosis 137814 Macular amyloidosis 137817 Arachnoiditis 137820 Extrapelvic endometriosis 137831 X-linked intellectual disability-cerebellar hypoplasia syndrome 137834 Frank-Ter Haar syndrome 137839 Lemierre syndrome 137867 Madras motor neuron disease 137888 Auriculocondylar syndrome 137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa 137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 137908 Hypotonia with lactic acidemia and hyperammonemia 137914 Choanal atresia 137917 Choanal atresia, unilateral 137920 Choanal atresia, bilateral 137926 Primary laryngeal lymphangioma 137929 Neonatal brainstem dysfunction 137932 Congenital laryngeal palsy 137935 Airway infantile hemangioma 139396 X-linked cerebral adrenoleukodystrophy 139399 Adrenomyeloneuropathy 139402 Drug reaction with eosinophilia and systemic symptoms 139406 Encephalopathy due to prosaposin deficiency 139411 Carney triad 139414 Congenital panfollicular nevus 139417 Acute transverse myelitis 139423 Idiopathic acute transverse myelitis 139426 Perioral myoclonia with absences 139431 Epilepsy with eyelid myoclonia 139436 Multicentric reticulohistiocytosis 139441 Hypomyelination with atrophy of basal ganglia and cerebellum 139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts 139447 Progressive cavitating leukoencephalopathy 139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 139455 Autosomal recessive bestrophinopathy 139466 SERKAL syndrome 139471 Microphthalmia with brain and digit anomalies 139474 17q11.2 microduplication syndrome 139480 Autosomal recessive spastic paraplegia type 39 139485 Autosomal recessive ataxia due to ubiquinone deficiency 139507 Dietary iron overload disease 139512 Neuropathy with hearing impairment 139515 Charcot-Marie-Tooth disease type 4J 139518 Distal hereditary motor neuropathy type 1 139525 Distal hereditary motor neuropathy type 2 139536 Distal hereditary motor neuropathy type 5 139547 Distal spinal muscular atrophy type 3 139552 Distal hereditary motor neuropathy, Jerash type 139557 X-linked distal spinal muscular atrophy type 3 139564 Hereditary sensory and autonomic neuropathy type 1B 139573 Hereditary sensory and autonomic neuropathy with deafness and global delay 139578 Mutilating hereditary sensory neuropathy with spastic paraplegia 139583 X-linked hereditary sensory and autonomic neuropathy with deafness 139589 Distal hereditary motor neuropathy type 7 140286 Secondary hypoparathyroidism due to impaired parathormon secretion 140436 Primary intraosseous venous malformation 140481 Autosomal dominant slowed nerve conduction velocity 140896 Severe acute respiratory syndrome 140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency 140908 Brachydactyly type B2 140917 Stapes ankylosis with broad thumbs and toes 140922 Titin-related limb-girdle muscular dystrophy R10 140927 Benign familial neonatal-infantile seizures 140933 Linear atrophoderma of Moulin 140936 Lelis syndrome 140941 Short stature due to primary acid-labile subunit deficiency 140944 CLOVES syndrome 140949 Low-flow priapism 140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome 140957 Autosomal dominant macrothrombocytopenia 140963 Bilateral microtia-deafness-cleft palate syndrome 140966 Palmoplantar keratoderma, Nagashima type 140969 Saldino-Mainzer syndrome 140976 RHYNS syndrome 140989 Primary angiitis of the central nervous system 141000 Orofaciodigital syndrome type 11 141007 Orofaciodigital syndrome type 9 141013 First branchial cleft anomaly 141022 Second branchial cleft anomaly 141030 Third branchial cleft anomaly 141037 Fourth branchial cleft anomaly 141046 Cervical dermoid cyst 141051 Facial dermoid cyst 141061 Commissural lip fistula 141064 Lower lip fistula 141067 Cervicofacial fibrochondroma 141071 Digestive duplication cyst of the tongue 141074 External auditory canal aplasia/hypoplasia 141077 Epignathus 141083 Nasolacrimal duct cyst 141091 Polyrrhinia 141096 Supernumerary nostril 141099 Proboscis lateralis 141103 Nasal dermoid cyst 141107 Nasopharyngeal teratoma 141112 Nasal glial heterotopia 141115 Nasal ganglioglioma 141118 Nasal encephalocele 141121 Congenital subglottic stenosis 141124 Congenital laryngeal cyst 141127 Congenital tracheal stenosis 141132 Oculo-auriculo-vertebral spectrum 141145 Hemifacial hyperplasia 141148 Hemifacial myohyperplasia 141152 Isolated congenital hypoglossia/aglossia 141163 Glossopalatine ankylosis 141168 Frontonasal arteriovenous malformation 141171 Maxillary arteriovenous malformation 141174 Mandibular arteriovenous malformation 141179 Non-involuting congenital hemangioma 141184 Rapidly involuting congenital hemangioma 141194 Cerebrofacial arteriovenous metameric syndrome type 1 141199 Cerebrofacial arteriovenous metameric syndrome type 3 141209 Diffuse lymphatic malformation 141214 Isolated congenital syngnathia 141219 Nasal dorsum fistula 141239 Median cleft of the upper lip and maxilla 141242 Paramedian nasal cleft 141258 Tessier number 4 facial cleft 141261 Tessier number 5 facial cleft 141265 Tessier number 6 facial cleft 141276 Tessier number 7 facial cleft 141288 Midline cervical cleft 141291 Cleft lip and alveolus 141333 Biemond syndrome type 2 155838 Pinnae fistula or cyst 155878 Submucosal cleft palate 155884 Coloboma of superior eyelid 155889 Coloboma of inferior eyelid 156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type 156731 Dyssegmental dysplasia, Rolland-Desbuquois type 157215 Hereditary hypophosphatemic rickets with hypercalciuria 157713 Congenital or early infantile CACH syndrome 157716 Late infantile CACH syndrome 157719 Juvenile or adult CACH syndrome 157769 Situs ambiguus 157791 Epithelioid hemangioendothelioma 157794 Hereditary mixed polyposis syndrome 157798 Serrated polyposis syndrome 157801 Mesoaxial synostotic syndactyly with phalangeal reduction 157808 Isolated pseudoarthrosis of the limbs 157820 Cold-induced sweating syndrome 157823 Klüver-Bucy syndrome 157826 Congenital epulis 157832 Craniorhiny 157835 Paroxysmal hemicrania 157846 Neuroferritinopathy 157850 Pantothenate kinase-associated neurodegeneration 157941 Huntington disease-like 1 157946 Huntington disease-like 3 157949 Combined immunodeficiency with granulomatosis 157954 ANE syndrome 157962 Oculoauricular syndrome, Schorderet type 157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome 157973 Congenital muscular dystrophy due to LMNA mutation 157991 Generalized eruptive histiocytosis 157997 Benign cephalic histiocytosis 158000 Juvenile xanthogranuloma 158003 Xanthoma disseminatum 158008 Papular xanthoma 158011 Necrobiotic xanthogranuloma 158014 Rosaï-Dorfman disease 158019 Indeterminate cell histiocytosis 158022 Progressive nodular histiocytosis 158025 Hereditary progressive mucinous histiocytosis 158029 Sea-blue histiocytosis 158048 Hemophagocytic syndrome associated with an infection 158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease 158061 Macrophage activation syndrome 158668 Ectodermal dysplasia-skin fragility syndrome 158673 Localized dystrophic epidermolysis bullosa, acral form 158676 Localized dystrophic epidermolysis bullosa, nails only 158681 Epidermolysis bullosa simplex with circinate migratory erythema 158684 Epidermolysis bullosa simplex with pyloric atresia 158687 Lethal acantholytic erosive disorder 158766 Typical urticaria pigmentosa 158769 Plaque-form urticaria pigmentosa 158772 Nodular urticaria pigmentosa 158775 Smoldering systemic mastocytosis 158778 Isolated bone marrow mastocytosis 160148 Cap polyposis 162516 Isolated congenital nasal pyriform aperture stenosis 162526 Isolated congenital auditory ossicle malformation 163525 Subacute cutaneous lupus erythematosus 163596 Hb Bart's hydrops fetalis 163634 Maffucci syndrome 163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome 163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome 163662 Spondyloepiphyseal dysplasia, Reardon type 163665 Spondyloepiphyseal dysplasia tarda, Kohn type 163668 Spondyloepiphyseal dysplasia, MacDermot type 163681 CNTNAP2-related developmental and epileptic encephalopathy 163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome 163690 Hypotonia-cystinuria syndrome 163693 2p21 microdeletion syndrome 163696 Action myoclonus-renal failure syndrome 163699 Alveolar soft tissue sarcoma 163703 Febrile infection-related epilepsy syndrome 163708 Cryptogenic late-onset epileptic spasms 163717 Benign familial mesial temporal lobe epilepsy 163721 Rolandic epilepsy-speech dyspraxia syndrome 163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease 163921 Posttransplant acute limbic encephalitis 163927 Pustulosis palmaris et plantaris 163931 Acrodermatitis continua of Hallopeau 163934 Atopic keratoconjunctivitis 163937 X-linked intellectual disability, Najm type 163956 X-linked intellectual disability, Nascimento type 163961 X-linked cerebral-cerebellar-coloboma syndrome 163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 163971 X-linked intellectual disability, Cilliers type 163976 X-linked intellectual disability, Van Esch type 163979 X-linked intellectual disability-craniofacioskeletal syndrome 163985 Hyperekplexia-epilepsy syndrome 164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation 164736 Familial advanced sleep-phase syndrome 165805 Familial mesial temporal lobe epilepsy with febrile seizures 165955 Wound myiasis 165958 Cavitary myiasis 165991 Exercise-induced hyperinsulinism 166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly 166016 Multiple epiphyseal dysplasia, Lowry type 166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome 166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome 166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome 166035 Brachydactyly-short stature-retinitis pigmentosa syndrome 166038 Metaphyseal chondrodysplasia, Kaitila type 166063 Pontocerebellar hypoplasia type 4 166073 Pontocerebellar hypoplasia type 6 166078 Von Willebrand disease type 1 166081 Von Willebrand disease type 2 166084 Von Willebrand disease type 2A 166087 Von Willebrand disease type 2B 166090 Von Willebrand disease type 2M 166093 Von Willebrand disease type 2N 166096 Von Willebrand disease type 3 166100 Autosomal dominant otospondylomegaepiphyseal dysplasia 166105 FASTKD2-related infantile mitochondrial encephalomyopathy 166108 Intellectual disability, Birk-Barel type 166113 Bazex syndrome 166119 Isolated osteopoikilosis 166260 Dentinogenesis imperfecta type 2 166265 Dentinogenesis imperfecta type 3 166272 Odontochondrodysplasia 166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 166282 Familial sick sinus syndrome 166286 Porokeratotic eccrine ostial and dermal duct nevus 166291 Dirofilariasis 166299 Benign partial epilepsy of infancy with complex partial seizures 166302 Benign partial epilepsy with secondarily generalized seizures in infancy 166305 Benign infantile seizures associated with mild gastroenteritis 166308 Benign infantile focal epilepsy with midline spikes and waves during sleep 166409 Photosensitive epilepsy 166412 Hot water reflex epilepsy 166415 Audiogenic seizures 166418 Eating reflex epilepsy 166421 Orgasm-induced seizures 166424 Thinking seizures 166427 Startle epilepsy 166430 Micturation-induced seizures 166433 Reading seizures 167635 Scleromyxedema 168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 168454 Spondyloepimetaphyseal dysplasia, Geneviève type 168544 Spondylometaphyseal dysplasia, Golden type 168549 Axial spondylometaphyseal dysplasia 168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 168555 Spondylometaphyseal dysplasia, A4 type 168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency 168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 168569 H syndrome 168572 Native American myopathy 168577 Hereditary cryohydrocytosis with reduced stomatin 168583 Hereditary North American Indian childhood cirrhosis 168588 Hyperandrogenism due to cortisone reductase deficiency 168593 Sudden infant death-dysgenesis of the testes syndrome 168598 Methionine adenosyltransferase I/III deficiency 168601 Congenital enteropathy due to enteropeptidase deficiency 168606 Seborrhea-like dermatitis with psoriasiform elements 168612 Congenital deficiency in alpha-fetoprotein 168615 Hereditary persistence of alpha-fetoprotein 168621 Dysplasia of head of femur, Meyer type 168624 Familial scaphocephaly syndrome, McGillivray type 168629 Autosomal thrombocytopenia with normal platelets 168632 Generalized basaloid follicular hamartoma syndrome 168782 Childhood disintegrative disorder 168796 Heart-hand syndrome, Slovenian type 168811 Malignant peritoneal mesothelioma 168816 Peritoneal inclusion cyst 168829 Primary peritoneal carcinoma 168940 Chronic eosinophilic leukemia 168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement 168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement 168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 168960 Refractory anemia with excess blasts in transformation 168966 Composite lymphoma 168984 CLAPO syndrome 168999 Malignant melanoma of the mucosa 169079 Cernunnos-XLF deficiency 169082 Combined immunodeficiency due to CD3gamma deficiency 169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 169090 Combined immunodeficiency due to CRAC channel dysfunction 169095 Severe combined immunodeficiency due to FOXN1 deficiency 169100 Immunodeficiency due to CD25 deficiency 169105 Good syndrome 169110 Immunoglobulin heavy chain deficiency 169139 Transient hypogammaglobulinemia of infancy 169142 Recurrent infections due to specific granule deficiency 169147 Immunodeficiency due to a classical component pathway complement deficiency 169150 Immunodeficiency due to a late component of complement deficiency 169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 169157 T-B+ severe combined immunodeficiency due to CD45 deficiency 169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 169186 Autosomal recessive centronuclear myopathy 169189 Autosomal dominant centronuclear myopathy 169464 Primary CD59 deficiency 169467 Recurrent Neisseria infections due to factor D deficiency 169793 Severe hemophilia B 169796 Moderate hemophilia B 169799 Mild hemophilia B 169802 Severe hemophilia A 169805 Moderate hemophilia A 169808 Mild hemophilia A 171220 Rectal duplication 171430 Severe congenital nemaline myopathy 171433 Intermediate nemaline myopathy 171436 Typical nemaline myopathy 171439 Childhood-onset nemaline myopathy 171442 Adult-onset nemaline myopathy 171445 Muscle filaminopathy 171607 X-linked spastic paraplegia type 34 171612 Autosomal dominant spastic paraplegia type 37 171617 Autosomal dominant spastic paraplegia type 38 171622 Autosomal recessive spastic paraplegia type 32 171629 Autosomal recessive spastic paraplegia type 35 171673 Limbal stem cell deficiency 171680 Lissencephaly due to TUBA1A mutation 171684 Idiopathic bilateral vestibulopathy 171690 Metabolic myopathy due to lactate transporter defect 171695 Parkinsonian-pyramidal syndrome 171700 Diffuse panbronchiolitis 171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome 171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency 171709 Male infertility due to globozoospermia 171719 Cutis laxa-Marfanoid syndrome 171723 White sponge nevus 171829 6q16 microdeletion syndrome 171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 171844 Blindness-scoliosis-arachnodactyly syndrome 171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome 171851 MEDNIK syndrome 171863 Autosomal dominant spastic paraplegia type 42 171866 Spondyloepimetaphyseal dysplasia, aggrecan type 171871 Renal pseudohypoaldosteronism type 1 171876 Generalized pseudohypoaldosteronism type 1 171881 Cap myopathy 171886 Cylindrical spirals myopathy 171889 Myopathy with hexagonally cross-linked tubular arrays 171929 Trisomy 10p 177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 177907 Prader-Willi syndrome due to translocation 177910 Prader-Willi syndrome due to imprinting mutation 177926 Bleeding disorder in hemophilia A carriers 177929 Bleeding disorder in hemophilia B carriers 178029 Arginine vasopressin deficiency 178145 Moderate multiminicore disease with hand involvement 178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita 178303 8q22.1 microdeletion syndrome 178307 Reticulate acropigmentation of Kitamura 178311 Isolated sternocostoclavicular hyperostosis 178315 Undifferentiated embryonal sarcoma of the liver 178320 Acute lung injury 178333 Åland Islands eye disease 178338 UV-sensitive syndrome 178342 Inflammatory myofibroblastic tumor 178345 Aromatase excess syndrome 178355 Smith-McCort dysplasia 178364 Syndromic microphthalmia type 5 178377 Osteosclerosis-developmental delay-craniosynostosis syndrome 178382 Congenital vertical talus 178389 Osteopetrosis-hypogammaglobulinemia syndrome 178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 178400 Distal myopathy with anterior tibial onset 178461 X-linked myopathy with postural muscle atrophy 178464 Hereditary myopathy with early respiratory failure 178469 Autosomal dominant non-syndromic intellectual disability 178475 Wound botulism 178478 Infant botulism 178481 Intestinal botulism 178487 Adult intestinal botulism 178506 Brain calcification, Rajab type 178509 Perry syndrome 178512 Folliculotropic mycosis fungoides 178517 Localized pagetoid reticulosis 178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma 178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma 178533 Primary cutaneous gamma/delta-positive T-cell lymphoma 178536 Primary cutaneous marginal zone B-cell lymphoma 178540 Primary cutaneous follicle center lymphoma 178544 Primary cutaneous diffuse large B-cell lymphoma, leg type 179490 Obesity due to congenital leptin resistance 179494 Obesity due to leptin receptor gene deficiency 180074 True unicornuate uterus 180079 Pseudounicornuate uterus 180086 Didelphys uterus 180106 Bicervical bicornuate uterus and blind hemivagina 180111 Bicervical bicornuate uterus with patent cervix and vagina 180114 Unicervical bicornuate uterus 180126 Complete septate uterus 180129 Partial septate uterus 180139 Uterine hypoplasia 180142 Absence of uterine body 180145 Uterine cervical aplasia and agenesis 180154 Septate vagina 180157 Longitudinal vaginal septum 180160 Transverse vaginal septum 180176 Familial juvenile hypertrophy of the breast 180182 Supernumerary breasts 180188 Isolated congenital breast hypoplasia/aplasia 180226 Embryonal carcinoma 180229 Polyembryoma 180234 Mixed germ cell tumor 180237 Benign tumor of fallopian tubes 180242 Malignant tumor of fallopian tubes 180247 Vaginal carcinoma 180261 Phyllodes tumor of the breast 180267 Giant adenofibroma of the breast 180275 Paget disease of the nipple 182050 MYH9-related disease 182127 Extragonadal germinoma 183663 Hyper-IgM syndrome with susceptibility to opportunistic infections 183666 Hyper-IgM syndrome without susceptibility to opportunistic infections 183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 183678 Hermansky-Pudlak syndrome due to AP-3 deficiency 183707 Infantile LAD-like disease due to RAC2 deficiency 183713 Bacterial susceptibility due to TLR signaling pathway deficiency 189427 Cushing syndrome due to bilateral macronodular adrenocortical disease 189466 Familial isolated hypoparathyroidism due to impaired PTH secretion 199241 Pulmonary capillary hemangiomatosis 199244 Nelson syndrome 199247 Corticosteroid-binding globulin deficiency 199251 Ledderhose disease 199260 Calcifying aponeurotic fibroma 199267 Infantile digital fibromatosis 199276 Familial multiple lipomatosis 199279 Familial angiolipomatosis 199282 Harlequin syndrome 199285 Hereditary hypercarotenemia and vitamin A deficiency 199293 Congenital microgastria 199296 Congenital isolated ACTH deficiency 199299 Late-onset isolated ACTH deficiency 199302 Isolated cleft lip 199306 Cleft lip/palate 199310 Tetragametic chimerism 199315 Familial clubfoot with or without associated lower limb anomalies 199318 15q13.3 microdeletion syndrome 199323 Endophthalmitis 199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type 199329 Congenital myopathy, Paradas type 199332 Endocrine-cerebro-osteodysplasia syndrome 199337 Pancreatic insufficiency-anemia-hyperostosis syndrome 199340 Muscular dystrophy, Selcen type 199343 EAST syndrome 199348 Thiamine-responsive encephalopathy 199351 Adult-onset dystonia-parkinsonism 199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy 199627 Atypical autism 199630 Isolated cerebellar vermis hypoplasia 199642 Isolated congenital microcephaly 199647 Isolated encephalocele 200418 Immunodeficiency with factor I anomaly 200421 Immunodeficiency with factor H anomaly 206436 Infantile Krabbe disease 206443 Late-infantile/juvenile Krabbe disease 206448 Adult Krabbe disease 206470 Cystadenoma of childhood 206484 Gonadoblastoma 206489 Malignant germ cell tumor of the vagina 206492 Vulvovaginal rhabdomyosarcoma 206538 Malignant non-dysgerminomatous germ cell tumor of ovary 206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 206554 Fukutin-related limb-girdle muscular dystrophy R13 206559 POMT2-related limb-girdle muscular dystrophy R14 206564 POMGNT1-related limb-girdle muscular dystrophy R15 206569 Immune-mediated necrotizing myopathy 206572 Overlap myositis 206575 Rippling muscle disease with myasthenia gravis 206580 Autosomal recessive lower motor neuron disease with childhood onset 206583 Adult polyglucosan body disease 206586 Neurolymphomatosis 206594 Subacute inflammatory demyelinating polyneuropathy 206599 Isolated asymptomatic elevation of creatine phosphokinase 206991 Viral myositis 206994 Bacterial myositis 207000 Fungal myositis 208441 Bilateral parasagittal parieto-occipital polymicrogyria 208444 Bilateral frontal polymicrogyria 208447 Bilateral generalized polymicrogyria 208513 Spinocerebellar ataxia type 29 208524 Herpetiform pemphigus 208989 Non-paraneoplastic sensory ganglionopathy 208999 Paraneoplastic sensory ganglionopathy 209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy 209335 Autosomal dominant adult-onset proximal spinal muscular atrophy 209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy 209370 Severe neonatal-onset encephalopathy with microcephaly 209867 Autosomal dominant rhegmatogenous retinal detachment 209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 209905 Brain-lung-thyroid syndrome 209908 Isolated childhood apraxia of speech 209916 Extraskeletal myxoid chondrosarcoma 209919 Idiopathic copper-associated cirrhosis 209932 Cone dystrophy with supernormal rod response 209943 IRVAN syndrome 209951 Autosomal spastic paraplegia type 18 209956 Idiopathic uveal effusion syndrome 209959 Phacoanaphylactic uveitis 209964 Solitary rectal ulcer syndrome 209967 Episodic ataxia type 6 209970 Episodic ataxia type 7 209973 Benign nocturnal alternating hemiplegia of childhood 209981 IRIDA syndrome 209989 Non-papillary transitional cell carcinoma of the bladder 210110 Intermediate osteopetrosis 210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 210122 Congenital alveolar capillary dysplasia 210128 Urocanic aciduria 210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome 210141 Inherited congenital spastic tetraplegia 210144 Lethal polymalformative syndrome, Boissel type 210159 Adult hepatocellular carcinoma 210163 Congenital lethal myopathy, Compton-North type 210272 Mal de débarquement 210548 Macrocephaly-intellectual disability-autism syndrome 210571 Dystonia 16 210576 Congenital temporomandibular joint ankylosis 210584 Spindle cell hemangioma 211017 Spinocerebellar ataxia type 30 211067 Episodic ataxia type 5 213504 Adenocarcinoma of ovary 213512 Malignant mixed Müllerian tumor of the ovary 213528 Rare adenocarcinoma of the breast 213531 Metaplastic carcinoma of the breast 213557 Salivary gland type cancer of the breast 213600 Adenosarcoma of the corpus uteri 213605 Carcinofibroma of the corpus uteri 213610 Carcinosarcoma of the corpus uteri 213615 Rhabdomyosarcoma of the corpus uteri 213625 Leiomyosarcoma of the corpus uteri 213630 Primitive neuroectodermal tumor of the corpus uteri 213711 Endometrial stromal sarcoma 213716 Squamous cell carcinoma of the corpus uteri 213721 Undifferentiated carcinoma of the corpus uteri 213726 Serous carcinoma of the corpus uteri 213731 High-grade neuroendocrine carcinoma of the corpus uteri 213736 Low-grade neuroendocrine tumor of the corpus uteri 213746 Transitional cell carcinoma of the corpus uteri 213751 Malignant germ cell tumor of the corpus uteri 213767 Squamous cell carcinoma of the cervix uteri 213772 Adenocarcinoma of the cervix uteri 213777 High-grade neuroendocrine carcinoma of the cervix uteri 213787 Carcinosarcoma of the cervix uteri 213792 Adenosarcoma of the cervix uteri 213802 Rhabdomyosarcoma of the cervix uteri 213807 Leiomyosarcoma of the cervix uteri 213812 Primitive neuroectodermal tumor of the cervix uteri 213823 Adenoid cystic carcinoma of the cervix uteri 213828 Adenoid basal carcinoma of the cervix uteri 213833 Glassy cell carcinoma of the cervix uteri 213837 Malignant germ cell tumor of the cervix uteri 216694 Congenitally corrected transposition of the great arteries 216718 Isolated congenitally uncorrected transposition of the great arteries 216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation 216796 Osteogenesis imperfecta type 1 216804 Osteogenesis imperfecta type 2 216812 Osteogenesis imperfecta type 3 216820 Osteogenesis imperfecta type 4 216828 Osteogenesis imperfecta type 5 216866 Classic pantothenate kinase-associated neurodegeneration 216873 Atypical pantothenate kinase-associated neurodegeneration 216972 Niemann-Pick disease type C, severe perinatal form 216975 Niemann-Pick disease type C, severe early infantile neurologic onset 216978 Niemann-Pick disease type C, late infantile neurologic onset 216981 Niemann-Pick disease type C, juvenile neurologic onset 216986 Niemann-Pick disease type C, adult neurologic onset 217008 Bockenheimer syndrome 217012 Spinocerebellar ataxia type 31 217017 Zechi-Ceide syndrome 217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 217059 Isolated nail clubbing 217064 5-fluorouracil poisoning 217067 Pouchitis 217080 Pulmonary fungal infections in patients deemed at risk 217085 Mucopolysaccharidosis type 2, severe form 217093 Mucopolysaccharidosis type 2, attenuated form 217253 NMDA receptor encephalitis 217260 Progressive multifocal leukoencephalopathy 217266 BNAR syndrome 217330 REN-related autosomal dominant tubulointerstitial kidney disease 217335 RIN2 syndrome 217340 17q21.31 microduplication syndrome 217346 19q13.11 microdeletion syndrome 217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 217377 Microduplication Xp11.22p11.23 syndrome 217382 Neurodegenerative syndrome due to cerebral folate transport deficiency 217385 17p13.3 microduplication syndrome 217390 Combined immunodeficiency due to DOCK8 deficiency 217396 Progressive polyneuropathy with bilateral striatal necrosis 217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation 217407 Hereditary hypotrichosis with recurrent skin vesicles 217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 217557 Pulmonary interstitial glycogenosis 217560 Neuroendocrine cell hyperplasia of infancy 217563 Neonatal acute respiratory distress due to SP-B deficiency 217566 Chronic respiratory distress with surfactant metabolism deficiency 217622 Sensorineural deafness with dilated cardiomyopathy 217656 Inherited isolated arrhythmogenic cardiomyopathy 220295 Xeroderma pigmentosum-Cockayne syndrome complex 220386 Semilobar holoprosencephaly 220393 Diffuse cutaneous systemic sclerosis 220402 Limited cutaneous systemic sclerosis 220407 Limited systemic sclerosis 220436 Quebec platelet disorder 220443 Bleeding diathesis due to thromboxane synthesis deficiency 220448 Macrothrombocytopenia with mitral valve insufficiency 220460 Attenuated familial adenomatous polyposis 220465 Laron syndrome with immunodeficiency 220493 Joubert syndrome with ocular defect 220497 Joubert syndrome with renal defect 221008 Rothmund-Thomson syndrome type 1 221016 Rothmund-Thomson syndrome type 2 221039 Hereditary sclerosing poikiloderma, Weary type 221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome 221046 Poikiloderma with neutropenia 221054 Acrocephalopolydactyly 221061 Familial cerebral cavernous malformation 221074 Marchiafava-Bignami disease 221078 Combined hyperactive dysfunction syndrome of the cranial nerves 221083 Hemifacial spasm 221091 Trigeminal neuralgia 221098 Glossopharyngeal neuralgia 221117 Gerstmann syndrome 221120 Pseudoaminopterin syndrome 221126 Fowler vasculopathy 221139 Combined immunodeficiency with facio-oculo-skeletal anomalies 221142 Confetti-like macular atrophy 221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 225123 TFR2-related hemochromatosis 225147 Sporadic infantile bilateral striatal necrosis 225154 Familial infantile bilateral striatal necrosis 226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs 226316 Genetic transient congenital hypothyroidism 227510 Multiple system atrophy, cerebellar type 227535 Hereditary breast cancer 227796 Fundus albipunctatus 227972 Toxic oil syndrome 227976 Autosomal recessive optic atrophy, OPA7 type 227982 Autoimmune polyendocrinopathy type 3 227990 Autoimmune polyendocrinopathy type 4 228000 Idiopathic CD4 lymphocytopenia 228003 Severe combined immunodeficiency due to CORO1A deficiency 228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 228113 Anal fistula 228116 Hughes-Stovin syndrome 228119 Fusariosis 228123 Coccidioidomycosis 228140 Idiopathic ventricular fibrillation, non Brugada type 228157 Marburg acute multiple sclerosis 228165 Baló concentric sclerosis 228169 Autosomal dominant striatal neurodegeneration 228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N 228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M 228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 228227 Late-onset focal dermal elastosis 228236 Linear focal elastosis 228240 Elastoderma 228243 Elastofibroma dorsi 228247 Acquired pseudoxanthoma elasticum 228254 Elastoma 228264 Papular elastorrhexis 228272 Primary anetoderma 228277 Familial anetoderma 228285 Acquired cutis laxa 228290 White fibrous papulosis of the neck 228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis 228299 Mid-dermal elastolysis 228302 Carnitine palmitoyl transferase II deficiency, myopathic form 228305 Carnitine palmitoyl transferase II deficiency, severe infantile form 228308 Carnitine palmitoyl transferase II deficiency, neonatal form 228329 CLN1 disease 228337 CLN10 disease 228343 CLN4 disease 228346 CLN3 disease 228349 CLN2 disease 228354 CLN8 disease 228360 CLN5 disease 228363 CLN6 disease 228366 CLN7 disease 228371 Foodborne botulism 228374 Charcot-Marie-Tooth disease type 2B5 228379 Virus-associated trichodysplasia spinulosa 228384 5q14.3 microdeletion syndrome 228387 Spondylo-megaepiphyseal-metaphyseal dysplasia 228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome 228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 228399 8q12 microduplication syndrome 228402 2q23.1 microdeletion syndrome 228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome 228415 5q35 microduplication syndrome 228423 GATA2 deficiency spectrum 228426 Syndromic multisystem autoimmune disease due to Itch deficiency 229717 Isolated agammaglobulinemia 230800 Toxin-mediated infectious botulism 230839 Classical-like Ehlers-Danlos syndrome type 1 230851 Cardiac-valvular Ehlers-Danlos syndrome 230857 Ehlers-Danlos/osteogenesis imperfecta syndrome 231013 Congenital trigeminal anesthesia 231031 Erythema palmare hereditarium 231040 Familial generalized lentiginosis 231080 High-grade dysplasia in patients with Barrett esophagus 231108 Rhabdoid tumor predisposition syndrome 231111 Drug-induced lupus erythematosus 231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation 231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 231137 Silver-Russell syndrome due to 7p11.2p13 microduplication 231140 Silver-Russell syndrome due to an imprinting defect of 11p15 231144 Silver-Russell syndrome due to 11p15 microduplication 231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 231154 Combined immunodeficiency due to partial RAG1 deficiency 231160 Familial cerebral saccular aneurysm 231169 Usher syndrome type 1 231178 Usher syndrome type 2 231183 Usher syndrome type 3 231214 Beta-thalassemia major 231222 Beta-thalassemia intermedia 231226 Dominant beta-thalassemia 231237 Delta-beta-thalassemia 231242 Hemoglobin C-beta-thalassemia syndrome 231249 Hemoglobin E-beta-thalassemia syndrome 231393 Beta-thalassemia-X-linked thrombocytopenia syndrome 231401 Alpha-thalassemia-myelodysplastic syndrome 231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome 231445 Paraparetic variant of Guillain-Barré syndrome 231450 Acute pure sensory neuropathy 231457 Acute pandysautonomia 231466 Acute sensory ataxic neuropathy 231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency 231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency 231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency 231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 231568 Autosomal dominant generalized dystrophic epidermolysis bullosa 231573 Congenital erosive and vesicular dermatosis 231580 Primary unilateral adrenal hyperplasia 231625 Adrenocortical carcinoma with pure aldosterone hypersecretion 231632 Ectopic aldosterone-producing tumor 231662 Isolated growth hormone deficiency type IA 231671 Isolated growth hormone deficiency type IB 231679 Isolated growth hormone deficiency type II 231692 Isolated growth hormone deficiency type III 231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome 231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome 238269 AApoAII amyloidosis 238305 Infundibulo-neurohypophysitis 238329 Severe X-linked mitochondrial encephalomyopathy 238446 15q11q13 microduplication syndrome 238455 Infantile dystonia-parkinsonism 238459 SLC35A1-CDG 238468 Hypohidrotic ectodermal dysplasia 238475 Familial hypercholanemia 238505 Combined immunodeficiency due to CD27 deficiency 238523 Atypical hypotonia-cystinuria syndrome 238557 Chuvash erythrocytosis 238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 238578 Familial clubfoot due to 17q23.1q23.2 microduplication 238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 238593 IgG4-related mesenteritis 238606 Primary orthostatic tremor 238613 Beckwith-Wiedemann syndrome due to NSD1 mutation 238621 Ileal pouch anal anastomosis related faecal incontinence 238624 Idiopathic intracranial hypertension 238637 Megacystis-megaureter syndrome 238642 Primary megaureter, adult-onset form 238646 Congenital primary megaureter, obstructed form 238650 Congenital primary megaureter, refluxing form 238654 Congenital primary megaureter, nonrefluxing and unobstructed form 238666 Isolated congenital hypogonadotropic hypogonadism 238670 Isolated thyrotropin-releasing hormone deficiency 238688 Neonatal iodine exposure 238722 Familial congenital mirror movements 238744 Mammary-digital-nail syndrome 238750 4q21 microdeletion syndrome 238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea 238769 1q44 microdeletion syndrome 240071 Classic progressive supranuclear palsy syndrome 240085 Progressive supranuclear palsy-predominant parkinsonism syndrome 240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 240103 Progressive supranuclear palsy-corticobasal syndrome 240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 240760 Nijmegen breakage syndrome-like disorder 243343 Dimethylglycine dehydrogenase deficiency 243367 Acute fatty liver of pregnancy 244242 HELLP syndrome 244275 De novo thrombotic microangiopathy after kidney transplantation 244283 Biliary atresia with splenic malformation syndrome 244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 244310 RFT1-CDG 247165 Infantile mercury poisoning 247198 Progressive cerebello-cerebral atrophy 247203 Collecting duct carcinoma 247234 Sporadic adult-onset ataxia of unknown etiology 247245 Superficial siderosis 247257 Inhalational anthrax 247262 Hyperphosphatasia-intellectual disability syndrome 247353 Generalized pustular psoriasis 247378 Autosomal recessive secondary polycythemia not associated with VHL gene 247511 Autosomal dominant secondary polycythemia 247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome 247525 Citrullinemia type I 247546 Acute neonatal citrullinemia type I 247573 Late-onset citrullinemia type I 247585 Citrullinemia type II 247598 Neonatal intrahepatic cholestasis due to citrin deficiency 247604 Juvenile primary lateral sclerosis 247623 Perinatal lethal hypophosphatasia 247638 Prenatal benign hypophosphatasia 247651 Infantile hypophosphatasia 247667 Childhood-onset hypophosphatasia 247676 Adult hypophosphatasia 247685 Odontohypophosphatasia 247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 247698 Multiple endocrine neoplasia type 2A 247709 Multiple endocrine neoplasia type 2B 247718 Inflammatory myopathy with abundant macrophages 247724 Idiopathic eosinophilic myositis 247762 Lipoblastoma 247768 Müllerian aplasia and hyperandrogenism 247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 247790 FTH1-related iron overload 247794 Juvenile cataract-microcornea-renal glucosuria syndrome 247798 MUTYH-related attenuated familial adenomatous polyposis 247806 APC-related attenuated familial adenomatous polyposis 247815 Autosomal recessive ataxia due to PEX10 deficiency 247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome 247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome 247834 Occult macular dystrophy 247868 NLRP12-associated hereditary periodic fever syndrome 248111 Juvenile Huntington disease 248340 Isolated delta-storage pool disease 248408 Familial hypodysfibrinogenemia 250831 Logopenic progressive aphasia 250923 Isolated aniridia 250932 Autosomal dominant optic atrophy and peripheral neuropathy 250972 Polymicrogyria with optic nerve hypoplasia 250977 AICA-ribosiduria 250984 Autosomal recessive Stickler syndrome 250989 1q21.1 microdeletion syndrome 250994 1q21.1 microduplication syndrome 250999 1q41q42 microdeletion syndrome 251004 Paternal uniparental disomy of chromosome 1 251009 Maternal uniparental disomy of chromosome 1 251014 2q31.1 microdeletion syndrome 251019 2q32q33 microdeletion syndrome 251028 SATB2-associated syndrome due to a chromosomal rearrangement 251038 3q29 microduplication syndrome 251043 Ring chromosome 5 syndrome 251046 6p22 microdeletion syndrome 251056 6q25.2q25.3 microdeletion syndrome 251061 7q31 microdeletion syndrome 251066 8p11.2 deletion syndrome 251071 8p23.1 microdeletion syndrome 251076 8p23.1 duplication syndrome 251262 Familial osteochondritis dissecans 251274 Familial hyperaldosteronism type III 251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome 251282 Autosomal dominant spastic ataxia type 1 251287 Benign concentric annular macular dystrophy 251290 Parietal foramina with clavicular hypoplasia 251295 Pigmented paravenous retinochoroidal atrophy 251304 Infantile onset panniculitis with uveitis and systemic granulomatosis 251307 Idiopathic recurrent pericarditis 251325 Drug-induced vasculitis 251328 Unclassified vasculitis 251332 Unexplained long-lasting fever/inflammatory syndrome 251347 Ataxia-telangiectasia-like disorder 251359 Sickle cell-beta-thalassemia disease syndrome 251365 Sickle cell-hemoglobin C disease syndrome 251370 Sickle cell-hemoglobin D disease syndrome 251375 Sickle cell-hemoglobin E disease syndrome 251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 251383 CK syndrome 251393 Localized junctional epidermolysis bullosa 251510 46,XY partial gonadal dysgenesis 251515 Distal arthrogryposis type 10 251523 Hyperzincemia and hypercalprotectinemia 251576 Gliosarcoma 251579 Giant cell glioblastoma 251582 Gliomatosis cerebri 251589 Anaplastic astrocytoma 251595 Diffuse astrocytoma 251598 Protoplasmic astrocytoma 251601 Fibrillary astrocytoma 251604 Gemistocytic astrocytoma 251607 Pleomorphic xanthoastrocytoma 251612 Pilocytic astrocytoma 251615 Pilomyxoid astrocytoma 251618 Subependymal giant cell astrocytoma 251623 Pituicytoma 251627 Oligodendroglioma 251630 Anaplastic oligodendroglioma 251636 Ependymoma 251639 Subependymoma 251643 Myxopapillary ependymoma 251646 Anaplastic ependymoma 251656 Oligoastrocytoma 251663 Anaplastic oligoastrocytoma 251671 Angiocentric glioma 251674 Chordoid glioma 251679 Astroblastoma 251855 Anaplastic/large cell medulloblastoma 251858 Medulloblastoma with extensive nodularity 251863 Desmoplastic/nodular medulloblastoma 251867 Classic medulloblastoma 251877 Ganglioneuroblastoma 251899 Choroid plexus carcinoma 251902 Atypical papilloma of choroid plexus 251909 Pineoblastoma 251912 Pineocytoma 251915 Papillary tumor of the pineal region 251919 Pineal parenchymal tumor of intermediate differentiation 251927 Extraventricular neurocytoma 251931 Cerebellar liponeurocytoma 251937 Gangliocytoma 251940 Desmoplastic infantile astrocytoma/ganglioglioma 251946 Dysembryoplastic neuroepithelial tumor 251949 Ganglioglioma 251957 Anaplastic ganglioglioma 251962 Papillary glioneuronal tumor 251975 Rosette-forming glioneuronal tumor 251992 Ganglioneuroma 252006 Yolk sac tumor of central nervous system 252015 Choriocarcinoma of the central nervous system 252018 Teratoma of the central nervous system 252021 Mixed germ cell tumor of central nervous system 252031 Diffuse leptomeningeal melanocytosis 252046 Meningeal melanocytoma 252050 Primary melanoma of the central nervous system 252054 Hemangioblastoma 252128 Malignant peripheral nerve sheath tumor with perineurial differentiation 252164 Benign schwannoma 252175 Vestibular schwannoma 252183 Neurofibroma 252202 Constitutional mismatch repair deficiency syndrome 252206 Melanoma and neural system tumor syndrome 252212 Malignant triton tumor 254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome 254346 19p13.12 microdeletion syndrome 254351 Distal 7q11.23 microdeletion syndrome 254361 Plectin-related limb-girdle muscular dystrophy R17 254379 Linear lichen planus 254395 Actinic lichen planus 254411 Annular atrophic lichen planus 254424 Annular lichen planus 254449 Atrophic lichen planus 254463 Lichen planus pigmentosus 254478 Lichen planus pemphigoides 254492 Frontal fibrosing alopecia 254504 Inhalational botulism 254509 Iatrogenic botulism 254516 Temple syndrome 254519 Kagami-Ogata syndrome 254525 Temple syndrome due to paternal 14q32.2 microdeletion 254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion 254531 Temple syndrome due to paternal 14q32.2 hypomethylation 254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation 254688 Complete hydatidiform mole 254693 Partial hydatidiform mole 254698 Epithelioid trophoblastic tumor 254704 Genetic hyperferritinemia without iron overload 254851 Mitochondrial DNA-related dystonia 254854 Pure mitochondrial myopathy 254857 Lethal infantile mitochondrial myopathy 254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 254875 Mitochondrial DNA depletion syndrome, myopathic form 254881 Spinocerebellar ataxia with epilepsy 254886 Autosomal recessive progressive external ophthalmoplegia 254892 Autosomal dominant progressive external ophthalmoplegia 254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 254902 Renal tubulopathy-encephalopathy-liver failure syndrome 254905 Isolated cytochrome C oxidase deficiency 254913 Isolated ATP synthase deficiency 254920 Combined oxidative phosphorylation defect type 2 254925 Combined oxidative phosphorylation defect type 4 254930 Combined oxidative phosphorylation defect type 7 255132 Adult-onset autosomal recessive sideroblastic anemia 255138 Pyruvate dehydrogenase E1-beta deficiency 255182 Pyruvate dehydrogenase E3-binding protein deficiency 255210 Mitochondrial DNA-associated Leigh syndrome 255229 Navajo neurohepatopathy 255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 260305 Autosomal recessive sideroblastic anemia 261102 Distal 7q11.23 microduplication syndrome 261112 Monosomy 9p 261120 14q11.2 microdeletion syndrome 261144 FOXG1 syndrome due to 14q12 microdeletion 261183 15q11.2 microdeletion syndrome 261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion 261197 Proximal 16p11.2 microdeletion syndrome 261204 16p11.2p12.2 microduplication syndrome 261211 16p11.2p12.2 microdeletion syndrome 261222 Distal 16p11.2 microdeletion syndrome 261229 14q11.2 microduplication syndrome 261236 16p13.11 microdeletion syndrome 261243 16p13.11 microduplication syndrome 261250 16q24.3 microdeletion syndrome 261257 Distal 17p13.3 microdeletion syndrome 261265 17q12 microdeletion syndrome 261272 17q12 microduplication syndrome 261279 17q23.1q23.2 microdeletion syndrome 261290 Trisomy 17p 261295 20p12.3 microdeletion syndrome 261304 Paternal 20q13.2q13.3 microdeletion syndrome 261311 20q13.33 microdeletion syndrome 261318 Trisomy 20p 261323 21q22.11q22.12 microdeletion syndrome 261330 Distal 22q11.2 microdeletion syndrome 261337 Distal 22q11.2 microduplication syndrome 261344 Trisomy 1q 261349 2p15p16.1 microdeletion syndrome 261476 Xp21 deletion syndrome 261483 Xq27.3q28 duplication syndrome 261494 Kleefstra syndrome 261501 Atypical Norrie disease due to Xp11.3 microdeletion 261519 Maternal uniparental disomy of chromosome X 261524 Paternal uniparental disomy of chromosome X 261529 Ring chromosome Y syndrome 261534 49,XXXYY syndrome 261537 Mowat-Wilson syndrome due to monosomy 2q22 261552 Mowat-Wilson syndrome due to a ZEB2 point mutation 261584 Familial adenomatous polyposis due to 5q22.2 microdeletion 261600 Alagille syndrome due to 20p12 microdeletion 261619 Alagille syndrome due to a JAG1 point mutation 261629 Alagille syndrome due to a NOTCH2 point mutation 261638 Okihiro syndrome due to 20q13 microdeletion 261647 Okihiro syndrome due to a point mutation 261652 Kleefstra syndrome due to a point mutation 263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency 263310 Thymoma type A 263317 Thymoma type B 263324 Thymoma type AB 263331 Well-differentiated thymic neuroendocrine carcinoma 263335 Moderately-differentiated thymic neuroendocrine carcinoma 263339 Poorly differentiated thymic neuroendocrine carcinoma 263347 MRCS syndrome 263352 Postcardiotomy right ventricular failure 263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 263413 Angiosarcoma 263425 Nevus of Ota 263432 Nevus of Ito 263435 Congenital smooth muscle hamartoma 263455 Congenital hyperinsulinism due to HNF4A deficiency 263458 Hyperinsulinism due to INSR deficiency 263463 CHST3-related skeletal dysplasia 263479 Fuchs heterochromic iridocyclitis 263482 Spondyloepimetaphyseal dysplasia, Maroteaux type 263487 COG5-CDG 263494 DPM3-CDG 263501 COG4-CDG 263508 COG1-CDG 263516 Progressive myoclonic epilepsy type 3 263524 Acute necrotizing encephalopathy of childhood 263534 Acral peeling skin syndrome 263543 Generalized peeling skin syndrome 263548 Peeling skin syndrome type A 263553 Peeling skin syndrome type B 263662 Familial multiple meningioma 263665 NK-cell enteropathy 264200 14q22q23 microdeletion syndrome 264450 Trisomy 8p 264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 264675 Hereditary pulmonary alveolar proteinosis 264688 Congenital chylothorax 264691 Isolated pulmonary capillaritis 264978 Drug or radiation exposure-related interstitial lung disease 268114 RAS-associated autoimmune leukoproliferative disease 268129 Spheroid body myopathy 268139 Intraocular medulloepithelioma 268145 Classic maple syrup urine disease 268162 Intermediate maple syrup urine disease 268173 Intermittent maple syrup urine disease 268184 Thiamine-responsive maple syrup urine disease 268249 Mycophenolate mofetil embryopathy 268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 268316 Complication in hemodialysis 268322 Hereditary thrombocytopenia with normal platelets 268363 Open iniencephaly 268366 Closed iniencephaly 268810 Isolated posterior meningocele 268820 Cranial meningocele 268823 Occipital encephalocele 268826 Parietal encephalocele 268829 Basal encephalocele 268861 Primary tethered cord syndrome 268865 Neurenteric cyst 268868 Isolated amyelia 268882 Arnold-Chiari malformation type I 268920 Isolated megalencephaly 268936 Isolated arhinencephaly 268940 Bilateral polymicrogyria 268943 Unilateral polymicrogyria 268947 Unilateral focal polymicrogyria 268961 Isolated focal cortical dysplasia type I 268973 Isolated focal cortical dysplasia type Ia 268980 Isolated focal cortical dysplasia type Ib 268987 Isolated focal cortical dysplasia type Ic 268994 Isolated focal cortical dysplasia type II 269001 Isolated focal cortical dysplasia type IIa 269008 Isolated focal cortical dysplasia type IIb 269197 Glioependymal/ependymal cyst 269203 Isolated cerebellar vermis agenesis 269206 Isolated total cerebellar vermis agenesis 269209 Isolated partial cerebellar vermis agenesis 269212 Isolated Dandy-Walker malformation with hydrocephalus 269215 Isolated Dandy-Walker malformation without hydrocephalus 269218 Isolated unilateral hemispheric cerebellar hypoplasia 269221 Isolated bilateral hemispheric cerebellar hypoplasia 269229 Pontine tegmental cap dysplasia 269505 Congenital communicating hydrocephalus 269510 Congenital non-communicating hydrocephalus 271861 Hereditary ATTR amyloidosis 275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency 275523 Dianzani autoimmune lymphoproliferative disease 275543 L1 syndrome 275555 Preeclampsia 275761 Lysosomal acid lipase deficiency 275766 Idiopathic pulmonary arterial hypertension 275777 Heritable pulmonary arterial hypertension 275864 Behavioral variant of frontotemporal dementia 275872 Frontotemporal dementia with motor neuron disease 275944 Hemolytic disease of the newborn with Kell alloimmunization 276066 Bile acid CoA ligase deficiency and defective amidation 276145 Malignant epithelial tumor of salivary glands 276148 Benign epithelial tumor of salivary glands 276152 Multiple endocrine neoplasia type 4 276174 Idiopathic recurrent stupor 276183 Spinocerebellar ataxia type 32 276193 Spinocerebellar ataxia type 35 276198 Spinocerebellar ataxia type 36 276212 Mucopolysaccharidosis type 6, rapidly progressing 276223 Mucopolysaccharidosis type 6, slowly progressing 276234 Non-syndromic male infertility due to sperm motility disorder 276238 Machado-Joseph disease type 1 276241 Machado-Joseph disease type 2 276244 Machado-Joseph disease type 3 276280 Hemihyperplasia-multiple lipomatosis syndrome 276399 Familial multinodular goiter 276405 Hyperbiliverdinemia 276413 10q22.3q23.3 microdeletion syndrome 276422 10q22.3q23.3 microduplication syndrome 276429 Hypnic headache 276432 Ogden syndrome 276435 Lower motor neuron syndrome with late-adult onset 276556 Hyperinsulinism due to UCP2 deficiency 276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 276608 Non-insulinoma pancreatogenous hypoglycemia syndrome 276621 Sporadic pheochromocytoma/secreting paraganglioma 276630 Symptomatic form of Coffin-Lowry syndrome in female carriers 279882 Spasmus nutans 279888 Acute endophthalmitis 279891 Chronic endophthalmitis 279894 Toxic maculopathy due to antimalarial drugs 279897 Primary oculocerebral lymphoma 279904 Primary intraocular lymphoma 279914 Intermediate uveitis 279919 Infectious posterior uveitis 279922 Infectious anterior uveitis 279925 Infectious panuveitis 279928 Paraneoplastic uveitis 279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 279943 Hereditary neutrophilia 279947 Postorgasmic illness syndrome 280062 Calciphylaxis 280065 Calciphylaxis cutis 280068 Visceral calciphylaxis 280071 ALG11-CDG 280133 Complement component 3 deficiency 280142 Severe combined immunodeficiency due to LCK deficiency 280183 Methylmalonic aciduria due to transcobalamin receptor defect 280195 Septopreoptic holoprosencephaly 280200 Microform holoprosencephaly 280205 Laryngotracheoesophageal cleft type 0 280210 Pelizaeus-Merzbacher disease, connatal form 280219 Pelizaeus-Merzbacher disease, classic form 280224 Pelizaeus-Merzbacher disease, transitional form 280229 Pelizaeus-Merzbacher disease in female carriers 280234 Null syndrome 280270 Pelizaeus-Merzbacher-like disease 280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation 280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation 280302 Autoimmune pancreatitis type 1 280315 Autoimmune pancreatitis type 2 280325 Distal deletion 12p 280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 280356 PLIN1-related familial partial lipodystrophy 280365 Autosomal semi-dominant severe lipodystrophic laminopathy 280379 Erythropoietic uroporphyria associated with myeloid malignancy 280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 280397 Familial Alzheimer-like prion disease 280403 Familial omphalocele syndrome with facial dysmorphism 280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 280553 Fatal infantile hypertonic myofibrillar myopathy 280558 Warsaw breakage syndrome 280576 Nestor-Guillermo progeria syndrome 280586 Chondrodysplasia with joint dislocations, gPAPP type 280598 Hereditary sensorimotor neuropathy with hyperelastic skin 280615 Hemoglobinopathy Toms River 280620 Progressive myoclonic epilepsy type 6 280628 Familial progressive hyper- and hypopigmentation 280633 Multiple congenital anomalies-hypotonia-seizures syndrome 280640 Occipital pachygyria and polymicrogyria 280654 Autosomal recessive nail dysplasia 280671 Megaconial congenital muscular dystrophy 280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 280763 Severe intellectual disability and progressive spastic paraplegia 280774 Generalized essential telangiectasia 280779 Cutaneous collagenous vasculopathy 280785 Bullous diffuse cutaneous mastocytosis 280794 Pseudoxanthomatous diffuse cutaneous mastocytosis 280802 Intralobar congenital pulmonary sequestration 280811 Extralobar congenital pulmonary sequestration 280821 Communicating congenital bronchopulmonary-foregut malformation 280827 Congenital pulmonary airway malformation type 0 280832 Congenital pulmonary airway malformation type 1 280840 Congenital pulmonary airway malformation type 2 280847 Congenital pulmonary airway malformation type 3 280854 Congenital pulmonary airway malformation type 4 280917 Idiopathic posterior uveitis 280921 Idiopathic panuveitis 281090 Syndromic recessive X-linked ichthyosis 281122 Self-improving collodion baby 281127 Acral self-healing collodion baby 281139 Annular epidermolytic ichthyosis 281190 Congenital reticular ichthyosiform erythroderma 281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 282166 Inherited Creutzfeldt-Jakob disease 284139 Larsen-like syndrome, B3GAT3 type 284149 Craniosynostosis-dental anomalies 284160 8q21.11 microdeletion syndrome 284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 284180 Xp22.13p22.2 duplication syndrome 284227 TEMPI syndrome 284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O 284247 Familial retinal arterial macroaneurysm 284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome 284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency 284289 Adult-onset autosomal recessive cerebellar ataxia 284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 284339 Pontocerebellar hypoplasia type 7 284343 DICER1 tumor-predisposition syndrome 284362 Fetal lung interstitial tumor 284388 Reversible cerebral vasoconstriction syndrome 284395 Well-differentiated fetal adenocarcinoma of the lung 284400 Small cell carcinoma of the bladder 284411 Glycerol kinase deficiency, juvenile form 284414 Glycerol kinase deficiency, adult form 284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form 284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 284448 CLIPPERS 284454 Acute zonal occult outer retinopathy 284460 Acute annular outer retinopathy 284963 Marfan syndrome type 1 284973 Marfan syndrome type 2 284979 Neonatal Marfan syndrome 284984 Aneurysm-osteoarthritis syndrome 289157 Hypocalcemic vitamin D-dependent rickets 289176 Autosomal recessive hypophosphatemic rickets 289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency 289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 289326 Tropical spastic paraparesis 289347 Infective dermatitis associated with HTLV-1 289356 Primary non-gestational choriocarcinoma of ovary 289362 Non-central nervous system-localized embryonal carcinoma 289365 Familial vesicoureteral reflux 289377 Early-onset myopathy with fatal cardiomyopathy 289380 Myosclerosis 289385 Malignancy diagnosed during pregnancy 289390 Primary Sjögren syndrome 289465 Isolated congenital adermatoglyphia 289478 PASH syndrome 289483 Intellectual disability-alacrima-achalasia syndrome 289494 4H leukodystrophy 289499 Congenital cataract microcornea with corneal opacity 289504 Combined malonic and methylmalonic acidemia 289513 12q15q21.1 microdeletion syndrome 289522 Microtriplication 11q24.1 289539 BAP1-related tumor predisposition syndrome 289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 289553 Dysmorphism-conductive hearing loss-heart defect syndrome 289560 Mitochondrial membrane protein-associated neurodegeneration 289586 Exfoliative ichthyosis 289596 Juvenile nasopharyngeal angiofibroma 289601 Hereditary arterial and articular multiple calcification syndrome 289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma 289666 Plasmablastic lymphoma 289682 Lymphoepithelial-like carcinoma 289685 Myopericytoma 289846 Glutathione synthetase deficiency with 5-oxoprolinuria 289849 Glutathione synthetase deficiency without 5-oxoprolinuria 289857 Neonatal glycine encephalopathy 289860 Infantile glycine encephalopathy 289863 Atypical glycine encephalopathy 289877 Transient hyperammonemia of the newborn 289891 Hypermethioninemia due to glycine N-methyltransferase deficiency 289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 293144 Familial clubfoot due to 5q31 microdeletion 293150 Familial clubfoot due to PITX1 point mutation 293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome 293168 Infantile-onset ascending hereditary spastic paralysis 293173 Acute generalized exanthematous pustulosis 293181 Malignant migrating focal seizures of infancy 293199 Pleomorphic rhabdomyosarcoma 293202 Epithelioid sarcoma 293208 Celiac artery compression syndrome 293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 293375 Grayson-Wilbrandt corneal dystrophy 293381 Epithelial recurrent erosion dystrophy 293462 Pre-Descemet corneal dystrophy 293603 Congenital hereditary endothelial dystrophy type II 293621 X-linked endothelial corneal dystrophy 293633 PYCR1-related De Barsy syndrome 293707 Blepharophimosis-intellectual disability syndrome, MKB type 293725 Blepharophimosis-intellectual disability syndrome, Verloes type 293807 Ketamine-induced biliary dilatation 293812 Fixed drug eruption 293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 293825 Congenital dyserythropoietic anemia type IV 293843 3MC syndrome 293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome 293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant 293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant 293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant 293925 Lethal occipital encephalocele-skeletal dysplasia syndrome 293936 EDICT syndrome 293939 Distal Xq28 microduplication syndrome 293948 1p21.3 microdeletion syndrome 293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy 293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome 293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 294016 Microcephaly-capillary malformation syndrome 294023 Neonatal inflammatory skin and bowel disease 294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication 294415 Renal-hepatic-pancreatic dysplasia 294422 Chronic intestinal failure 294967 Isolated amelia of upper limb 294969 Isolated amelia of lower limb 294971 Isolated tetra-amelia 294973 Isolated humeral agenesis/hypoplasia 294975 Isolated absence of upper arm and forearm with hand present 294977 Isolated absence of thigh and lower leg with foot present 294979 Isolated absence of both forearm and hand 294981 Isolated absence of both lower leg and foot 294983 Isolated acheiria 294986 Isolated apodia 294988 Isolated hypoplasia of thumb 295000 Amniotic band syndrome 295002 Isolated hyperphalangy 295004 Central polydactyly 295012 Syndactyly type 6 295014 Familial isolated clinodactyly of fingers 295016 Camptodactyly of fingers 295018 Congenital pseudoarthrosis of the tibia 295020 Congenital pseudoarthrosis of the femur 295022 Congenital pseudoarthrosis of the fibula 295024 Congenital pseudoarthrosis of the radius 295026 Congenital pseudoarthrosis of the ulna 295028 Isolated tibio-fibular synostosis 295030 True congenital shoulder dislocation 295032 Isolated congenital radial head dislocation 295034 Congenital knee dislocation 295036 Congenital patella dislocation 295044 Macrodactyly of fingers 295047 Macrodactyly of toes 295049 Upper limb hypertrophy 295051 Lower limb hypertrophy 295187 Zygodactyly type 1 295189 Zygodactyly type 2 295191 Zygodactyly type 3 295193 Zygodactyly type 4 295195 Synpolydactyly type 1 295197 Synpolydactyly type 2 295199 Synpolydactyly type 3 295201 Congenital vertical talus, unilateral 295203 Congenital vertical talus, bilateral 295225 Congenital elbow dislocation, unilateral 295227 Congenital elbow dislocation, bilateral 295229 Congenital genu recurvatum 295232 Congenital genu flexum 295239 Macrodactyly of fingers, unilateral 295241 Macrodactyly of fingers, bilateral 295243 Macrodactyly of toes, unilateral 295245 Macrodactyly of toes, bilateral 300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency 300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency 300293 Transient infantile hypertriglyceridemia and hepatosteatosis 300298 Severe congenital hypochromic anemia with ringed sideroblasts 300305 11p15.4 microduplication syndrome 300313 Congenital cataract-hearing loss-severe developmental delay syndrome 300319 Charcot-Marie-Tooth disease type 2P 300324 Persistent polyclonal B-cell lymphocytosis 300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome 300345 Autosomal systemic lupus erythematosus 300359 PLCG2-associated antibody deficiency and immune dysregulation 300373 X-linked acrogigantism 300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 300385 Pituitary carcinoma 300493 Sagliker syndrome 300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome 300504 Onychocytic matricoma 300512 Onychomatricoma 300525 Pseudohypoaldosteronism type 2D 300530 Pseudohypoaldosteronism type 2E 300536 DDOST-CDG 300547 Autosomal recessive infantile hypercalcemia 300552 Follicular cholangitis and pancreatitis 300557 Carcinoma of the ampulla of Vater 300564 Combined pulmonary fibrosis-emphysema syndrome 300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 300573 Polymicrogyria due to TUBB2B mutation 300576 Oligodontia-cancer predisposition syndrome 300605 Juvenile amyotrophic lateral sclerosis 300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 300849 Diffuse large B-cell lymphoma of the central nervous system 300857 T-cell/histiocyte rich large B cell lymphoma 300865 Primary cutaneous anaplastic large cell lymphoma 300869 Splenic diffuse red pulp small B-cell lymphoma 300878 Hairy cell leukemia variant 300888 Diffuse large B-cell lymphoma with chronic inflammation 300895 ALK-positive anaplastic large cell lymphoma 300903 ALK-negative anaplastic large cell lymphoma 306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome 306511 Autosomal recessive spastic paraplegia type 48 306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis 306527 Isolated hereditary congenital facial paralysis 306530 Congenital hereditary facial paralysis-variable hearing loss syndrome 306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome 306550 FADD-related immunodeficiency 306553 Myospherulosis 306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome 306577 Hereditary sodium channelopathy-related small fibers neuropathy 306617 X-linked complicated spastic paraplegia type 1 306644 Complication after organ transplantation 306658 Familial normophosphatemic tumoral calcinosis 306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 306669 Hemiparkinsonism-hemiatrophy syndrome 306674 Kufor-Rakeb syndrome 306682 Manganese poisoning 306686 Delayed encephalopathy due to carbon monoxide poisoning 306692 Cyanide-induced parkinsonism-dystonia 306731 Sydenham chorea 306734 Primary dystonia, DYT21 type 306741 Hemidystonia-hemiatrophy syndrome 306776 Sporadic hyperekplexia 307766 Curly hair-acral keratoderma-caries syndrome 307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 308013 Focal acral hyperkeratosis 308380 Methylcobalamin deficiency type cblDv1 308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 308473 Erythrocyte galactose epimerase deficiency 308487 Generalized galactose epimerase deficiency 308552 Glycogen storage disease due to acid maltase deficiency, infantile onset 308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 309015 Familial lipoprotein lipase deficiency 309020 Familial apolipoprotein C-II deficiency 309025 Mevalonate kinase deficiency 309031 Pancreatic triacylglycerol lipase deficiency 309108 Pancreatic colipase deficiency 309111 Combined pancreatic lipase-colipase deficiency 309147 Hyper-beta-alaninemia 309155 Sandhoff disease, infantile form 309162 Sandhoff disease, juvenile form 309169 Sandhoff disease, adult form 309178 Tay-Sachs disease, infantile form 309185 Tay-Sachs disease, juvenile form 309192 Tay-Sachs disease, adult form 309246 GM2 gangliosidosis, AB variant 309252 Atypical Gaucher disease due to saposin C deficiency 309256 Metachromatic leukodystrophy, late infantile form 309263 Metachromatic leukodystrophy, juvenile form 309271 Metachromatic leukodystrophy, adult form 309282 Alpha-mannosidosis, infantile form 309288 Alpha-mannosidosis, adult form 309297 Mucopolysaccharidosis type 4A 309310 Mucopolysaccharidosis type 4B 309324 Free sialic acid storage disease, infantile form 309331 Intermediate severe Salla disease 309334 Salla disease 309789 Rhizomelic chondrodysplasia punctata type 1 309796 Rhizomelic chondrodysplasia punctata type 2 309803 Rhizomelic chondrodysplasia punctata type 3 309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome 313781 20p13 microdeletion syndrome 313795 Jawad syndrome 313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome 313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 313838 Coats plus syndrome 313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome 313850 Infantile cerebellar-retinal degeneration 313855 FGFR2-related bent bone dysplasia 313884 12p12.1 microdeletion syndrome 313892 Developmental and speech delay due to SOX5 deficiency 313906 Congenital pancreatic cyst 313920 Epstein-Barr virus-associated gastric carcinoma 313936 PENS syndrome 313947 2q23.1 microduplication syndrome 314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 314017 Idiopathic linear interstitial keratitis 314022 Gastric adenocarcinoma and proximal polyposis of the stomach 314029 High bone mass osteogenesis imperfecta 314034 7p22.1 microduplication syndrome 314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome 314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity 314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 314381 Hereditary sensory and autonomic neuropathy type 6 314389 Xq12-q13.3 duplication syndrome 314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 314399 Autosomal dominant aplasia and myelodysplasia 314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome 314419 Ameloblastoma 314422 Ameloblastic carcinoma 314432 Spigelian hernia-cryptorchidism syndrome 314451 Meigs syndrome 314459 Pseudo-Meigs syndrome 314466 Atypical Meigs syndrome 314473 Ovarian fibroma 314478 Ovarian fibrothecoma 314485 Young adult-onset distal hereditary motor neuropathy 314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome 314566 Primary progressive apraxia of speech 314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 314585 15q overgrowth syndrome 314588 Distal triplication 15q 314597 Chudley-McCullough syndrome 314603 Autosomal recessive spastic ataxia with leukoencephalopathy 314613 Growing teratoma syndrome 314621 Duplication of the pituitary gland 314629 CLN11 disease 314632 CLN12 disease 314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 314647 Non-progressive cerebellar ataxia with intellectual disability 314652 Variant ABeta2M amyloidosis 314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 314667 TMEM165-CDG 314679 Cerebrofacioarticular syndrome 314684 Primary bone lymphoma 314689 Combined immunodeficiency due to STK4 deficiency 314697 Acquired porencephaly 314701 Primary systemic amyloidosis 314709 Primary localized amyloidosis 314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency 314721 Atypical dentin dysplasia due to SMOC2 deficiency 314769 Somatomammotropinoma 314777 Familial isolated pituitary adenoma 314786 Silent pituitary adenoma 314790 Null pituitary adenoma 314795 SHOX-related short stature 314802 Short stature due to partial GHR deficiency 314811 Short stature due to GHSR deficiency 314889 Autosomal dominant proximal renal tubular acidosis 314911 Severe Canavan disease 314918 Mild Canavan disease 314950 Primary hypereosinophilic syndrome 314962 Secondary hypereosinophilic syndrome 314970 Lymphocytic hypereosinophilic syndrome 314978 X-linked non progressive cerebellar ataxia 314993 Cataract-congenital heart disease-neural tube defect syndrome 315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 317425 Severe combined immunodeficiency due to DNA-PKcs deficiency 317428 Combined immunodeficiency due to ORAI1 deficiency 317430 Combined immunodeficiency due to STIM1 deficiency 317473 Pancytopenia due to IKZF1 mutations 317476 XMEN 319160 Congenital myopathy with internal nuclei and atypical cores 319171 Distal 17p13.1 microdeletion syndrome 319182 Wiedemann-Steiner syndrome 319189 Familial cortical myoclonus 319192 Diencephalic-mesencephalic junction dysplasia 319195 Chondroectodermal dysplasia with night blindness 319199 Autosomal recessive spastic paraplegia type 53 319205 Bilateral massive adrenal hemorrhage 319213 Lujo hemorrhagic fever 319218 Ebola hemorrhagic fever 319223 Argentine hemorrhagic fever 319229 Bolivian hemorrhagic fever 319234 Venezuelan hemorrhagic fever 319239 Brazilian hemorrhagic fever 319244 Chapare hemorrhagic fever 319247 Hantavirus pulmonary syndrome 319251 Rift valley fever 319254 Kyasanur forest disease 319266 Omsk hemorrhagic fever 319276 Clear cell renal carcinoma 319287 Multilocular cystic renal neoplasm of low malignant potential 319298 Papillary renal cell carcinoma 319303 Chromophobe renal cell carcinoma 319308 MiT family translocation renal cell carcinoma 319319 Renal medullary carcinoma 319322 Mucinous tubular and spindle cell renal carcinoma 319325 Tubulocystic renal cell carcinoma 319332 Autosomal recessive myogenic arthrogryposis multiplex congenita 319340 Carney complex-trismus-pseudocamptodactyly syndrome 319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations 319465 Inherited acute myeloid leukemia 319480 Acute myeloid leukemia with CEBPA somatic mutations 319487 Familial papillary or follicular thyroid carcinoma 319504 Combined oxidative phosphorylation defect type 8 319509 Combined oxidative phosphorylation defect type 9 319514 Combined oxidative phosphorylation defect type 13 319519 Combined oxidative phosphorylation defect type 14 319524 Combined oxidative phosphorylation defect type 15 319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 319605 X-linked mendelian susceptibility to mycobacterial diseases 319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency 319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 319635 Amyloidosis cutis dyschromia 319640 Retinal macular dystrophy type 2 319646 PGM1-CDG 319651 Constitutional megaloblastic anemia with severe neurologic disease 319667 Primary lymphoma of the conjunctiva 319671 Alazami syndrome 319675 Microcephalic primordial dwarfism, Dauber type 319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 320355 Autosomal dominant spastic paraplegia type 41 320360 MT-ATP6-related mitochondrial spastic paraplegia 320365 Autosomal dominant spastic paraplegia type 36 320370 Autosomal recessive spastic paraplegia type 43 320375 Autosomal recessive spastic paraplegia type 55 320380 Autosomal recessive spastic paraplegia type 54 320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 320391 Autosomal recessive spastic paraplegia type 46 320396 Autosomal recessive spastic paraplegia type 45 320401 Autosomal recessive spastic paraplegia type 44 320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 320411 Autosomal recessive spastic paraplegia type 56 324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency 324290 Early-onset Lafora body disease 324294 T-cell immunodeficiency with epidermodysplasia verruciformis 324299 Multiple paragangliomas associated with polycythemia 324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome 324313 9p13 microdeletion syndrome 324321 Sinoatrial node dysfunction and deafness 324353 Congenital achiasma 324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations 324381 Hereditary inclusion body myopathy type 4 324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 324422 ALG13-CDG 324442 Autosomal recessive axonal neuropathy with neuromyotonia 324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation 324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 324535 Combined oxidative phosphorylation defect type 11 324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome 324569 Pontocerebellar hypoplasia type 8 324575 Hyperinsulinism due to HNF1A deficiency 324581 Benign Samaritan congenital myopathy 324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 324588 Familial dyskinesia and facial myokymia 324601 X-linked cleft palate and ankyloglossia 324604 Classic multiminicore myopathy 324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 324625 Chikungunya 324632 Hendra virus infection 324636 Autoerythrocyte sensitization syndrome 324648 Invasive non-typhoidal salmonellosis 324703 ABetaL34V amyloidosis 324708 ABeta amyloidosis, Iowa type 324713 ABeta amyloidosis, Italian type 324718 ABetaA21G amyloidosis 324723 ABeta amyloidosis, Arctic type 324737 SRD5A3-CDG 324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis 324972 MAGIC syndrome 324977 Proteasome-associated autoinflammatory syndrome 325124 Testicular agenesis 325345 46,XY ovotesticular difference of sex development 325448 Leydig cell hypoplasia due to LHB deficiency 325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency 325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 329191 Tall stature-long halluces-multiple extra-epiphyses syndrome 329195 Developmental delay with autism spectrum disorder and gait instability 329211 Autosomal dominant neovascular inflammatory vitreoretinopathy 329217 Cerebral sinovenous thrombosis 329224 Schuurs-Hoeijmakers syndrome 329228 Microcephalic primordial dwarfism due to ZNF335 deficiency 329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement 329242 Congenital chronic diarrhea with protein-losing enteropathy 329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q 329284 Beta-propeller protein-associated neurodegeneration 329308 Fatty acid hydroxylase-associated neurodegeneration 329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 329319 Thrombocythemia with distal limb defects 329324 Inverse Klippel-Trénaunay syndrome 329329 Autosomal recessive frontotemporal pachygyria 329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 329457 Distal arthrogryposis type 5D 329466 Autosomal dominant focal dystonia, DYT25 type 329469 Acute megakaryoblastic leukemia in children without Down syndrome 329475 Spastic paraplegia-Paget disease of bone syndrome 329478 Adult-onset distal myopathy due to VCP mutation 329481 Lipoprotein glomerulopathy 329802 5p13 microduplication syndrome 329813 Mosaic genome-wide paternal uniparental disomy 329874 Idiopathic giant cell myocarditis 329883 Non-hypoproteinemic hypertrophic gastropathy 329894 Juvenile overlap myositis 329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis 329918 C3 glomerulopathy 329931 C3 glomerulonephritis 329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency 329967 Intermittent hydrarthrosis 329971 Generalized juvenile polyposis/juvenile polyposis coli 329977 Classic neuroendocrine tumor of appendix 329984 Goblet cell carcinoma 330001 Wild type ATTR amyloidosis 330012 High altitude pulmonary edema 330015 Lead poisoning 330021 Mercury poisoning 330029 Hypotrichosis-deafness syndrome 330032 Hemoglobin Lepore-beta-thalassemia syndrome 330041 Hemoglobin M disease 330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect 330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 330058 Hydroa vacciniforme 330061 Actinic prurigo 330064 Chronic actinic dermatitis 331176 Severe congenital neutropenia due to G6PC3 deficiency 331187 Immunodeficiency due to MASP-2 deficiency 331190 Immunodeficiency due to ficolin3 deficiency 331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency 331226 Susceptibility to infection due to TYK2 deficiency 331235 Selective IgM deficiency 352328 MEGDEL syndrome 352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 352403 Spectrin-associated autosomal recessive cerebellar ataxia 352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome 352470 DNA2-related mitochondrial DNA deletion syndrome 352479 ISPD-related limb-girdle muscular dystrophy R20 352490 Autism spectrum disorder due to AUTS2 deficiency 352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 352540 Oncogenic osteomalacia 352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 352577 Bainbridge-Ropers syndrome 352582 Familial infantile myoclonic epilepsy 352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation 352596 Progressive myoclonic epilepsy with dystonia 352629 16q24.1 microdeletion syndrome 352636 Phalangeal microgeodic syndrome 352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 352649 Brain dopamine-serotonin vesicular transport disease 352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 352657 Hereditary benign intraepithelial dyskeratosis 352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 352675 X-linked Charcot-Marie-Tooth disease type 6 352682 Cobblestone lissencephaly without muscular or ocular involvement 352709 CLN13 disease 352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 352718 Progressive retinal dystrophy due to retinol transport defect 352723 Attenuated Chédiak-Higashi syndrome 352731 Oculocutaneous albinism type 1 352734 Minimal pigment oculocutaneous albinism type 1 352737 Temperature-sensitive oculocutaneous albinism type 1 352745 Oculocutaneous albinism type 7 352763 Scleredema 353217 Epileptic encephalopathy with global cerebral demyelination 353220 Familial primary localized cutaneous amyloidosis 353253 Burning mouth syndrome 353277 Rubinstein-Taybi syndrome due to CREBBP mutations 353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 353298 Roifman syndrome 353308 Pyruvate carboxylase deficiency, infantile type 353314 Pyruvate carboxylase deficiency, severe neonatal type 353320 Pyruvate carboxylase deficiency, benign type 353327 Congenital myasthenic syndromes with glycosylation defect 353334 Congenital retinal arteriovenous communication 353344 Idiopathic macular telangiectasia type 1 353351 Idiopathic macular telangiectasia type 3 353356 Vasoproliferative tumor of the retina 356947 3q26q27 microdeletion syndrome 356961 SLC35A2-CDG 356978 D,L-2-hydroxyglutaric aciduria 356996 ANK3-related intellectual disability-sleep disturbance syndrome 357001 19p13.13 microdeletion syndrome 357008 Hemolytic uremic syndrome with DGKE deficiency 357027 Hereditary retinoblastoma 357034 Non-hereditary retinoblastoma 357043 Amyotrophic lateral sclerosis type 4 357058 Autosomal recessive cutis laxa type 2A 357064 Autosomal recessive cutis laxa type 2B 357074 Autosomal recessive cutis laxa type 2, classic type 357107 Arterial thoracic outlet syndrome 357131 Venous thoracic outlet syndrome 357154 Oral submucous fibrosis 357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome 357220 Primary essential cutis verticis gyrata 357225 Primary non-essential cutis verticis gyrata 357237 Combined immunodeficiency due to CARD11 deficiency 357329 Combined immunodeficiency due to IL21R deficiency 357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome 363396 High myopia-sensorineural deafness syndrome 363400 Severe neurodegenerative syndrome with lipodystrophy 363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome 363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 363417 Temtamy preaxial brachydactyly syndrome 363424 Multiple mitochondrial dysfunctions syndrome type 3 363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency 363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy 363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy 363478 Paratesticular adenocarcinoma 363483 Testicular teratoma 363489 Sex cord-stromal tumor of testis 363494 Non-seminomatous germ cell tumor of testis 363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 363528 Intellectual disability-strabismus syndrome 363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 363549 Acute encephalopathy with biphasic seizures and late reduced diffusion 363558 New-onset refractory status epilepticus 363611 CTCF-related neurodevelopmental disorder 363618 LMNA-related cardiocutaneous progeria syndrome 363623 GMPPB-related limb-girdle muscular dystrophy R19 363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome 363654 X-linked parkinsonism-spasticity syndrome 363659 20q11.2 microduplication syndrome 363665 Acroosteolysis-keloid-like lesions-premature aging syndrome 363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 363680 2p13.2 microdeletion syndrome 363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 363705 Craniofaciofrontodigital syndrome 363710 Spinocerebellar ataxia type 37 363717 Alexander disease type I 363722 Alexander disease type II 363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia 363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 363746 Balint syndrome 363958 17q21.31 microdeletion syndrome 363965 Koolen-De Vries syndrome due to a point mutation 363969 Autosomal recessive cerebral atrophy 363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 363976 Giant cell tumor of bone 363981 Charcot-Marie-Tooth disease type 4B3 363989 Familial benign flecked retina 363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 363999 Non-immune hydrops fetalis 364013 Immune hydrops fetalis 364028 X-linked intellectual disability due to GRIA3 mutations 364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood 364039 Hydroa vacciniforme-like lymphoma 364043 ALK-positive large B-cell lymphoma 364055 Severe early-childhood-onset retinal dystrophy 364063 Infantile epileptic-dyskinetic encephalopathy 364198 Bipartite talus 364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome 369840 TRAPPC11-related limb-girdle muscular dystrophy R18 369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome 369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 369873 Obesity due to SIM1 deficiency 369881 2p21 microdeletion syndrome without cystinuria 369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency 369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies 369913 Combined oxidative phosphorylation defect type 17 369920 Pontocerebellar hypoplasia type 9 369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 369942 CADDS 369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 369955 Methylmalonic acidemia with homocystinuria, type cblJ 369962 Methylmalonic acidemia with homocystinuria, type cblX 369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome 369999 Diffuse palmoplantar keratoderma with painful fissures 370002 Focal palmoplantar keratoderma with joint keratoses 370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation 370034 Familial syringomyelia 370039 Angora hair nevus 370046 Didymosis aplasticosebacea 370052 SCALP syndrome 370059 NEVADA syndrome 370076 Fetal carbamazepine syndrome 370079 Proximal 16p11.2 microduplication syndrome 370088 Acute infantile liver failure-multisystemic involvement syndrome 370091 Oculocutaneous albinism type 5 370097 Oculocutaneous albinism type 6 370103 Primary dystonia, DYT17 type 370109 Ataxia-telangiectasia variant 370127 Medich giant platelet syndrome 370131 White platelet syndrome 370334 Extraskeletal Ewing sarcoma 370348 Peripheral primitive neuroectodermal tumor 370396 Small cell carcinoma of the ovary 370921 STT3A-CDG 370924 STT3B-CDG 370927 SSR4-CDG 370930 XYLT1-CDG 370933 GM3 synthase deficiency 370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 370959 Congenital muscular dystrophy with cerebellar involvement 370968 Congenital muscular dystrophy with intellectual disability 370980 Congenital muscular dystrophy without intellectual disability 370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy 371007 Congenital muscular dystrophy with hyperlaxity 371364 Hypotonia-speech impairment-severe cognitive delay syndrome 371428 Multicentric osteolysis-nodulosis-arthropathy spectrum 391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency 391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 391320 East Texas bleeding disorder 391327 X-linked calvarial hyperostosis 391330 X-linked osteoporosis with fractures 391343 Fatal post-viral neurodegenerative disorder 391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 391351 SURF1-related Charcot-Marie-Tooth disease type 4 391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome 391372 FOXP1 Syndrome 391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 391384 Familial episodic pain syndrome 391389 Familial episodic pain syndrome with predominantly upper body involvement 391392 Familial episodic pain syndrome with predominantly lower limb involvement 391397 Hereditary sensory and autonomic neuropathy type 7 391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 391411 Atypical juvenile parkinsonism 391417 HSD10 disease 391428 HSD10 disease, infantile type 391457 HSD10 disease, neonatal type 391474 Frontorhiny 391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 391490 Adult-onset myasthenia gravis 391497 Juvenile myasthenia gravis 391504 Transient neonatal myasthenia gravis 391641 Feingold syndrome type 1 391646 Feingold syndrome type 2 391651 Glomus tumor 391655 Off-periods in Parkinson disease not responding to oral treatment 391665 Homozygous familial hypercholesterolemia 391673 Necrotizing enterocolitis 391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 391723 Mucinous adenocarcinoma of the appendix 394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 394532 Multiple acyl-CoA dehydrogenase deficiency, mild type 397587 Deep dermatophytosis 397590 Silver-Russell syndrome due to a point mutation 397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 397596 Activated PI3K-delta syndrome 397606 PrP systemic amyloidosis 397612 Macrocephaly-developmental delay syndrome 397615 Obesity due to CEP19 deficiency 397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome 397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 397685 Familial hyperprolactinemia 397692 Hereditary isolated aplastic anemia 397695 3q27.3 microdeletion syndrome 397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 397725 COASY protein-associated neurodegeneration 397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U 397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 397750 Periodic paralysis with later-onset distal motor neuropathy 397755 Periodic paralysis with transient compartment-like syndrome 397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 397787 Severe combined immunodeficiency due to IKK2 deficiency 397922 Ferro-cerebro-cutaneous syndrome 397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome 397937 Polyglucosan body myopathy type 1 397941 MAN1B1-CDG 397946 Autosomal spastic paraplegia type 58 397951 Microcephaly-thin corpus callosum-intellectual disability syndrome 397959 TCR-alpha-beta-positive T-cell deficiency 397964 Combined immunodeficiency due to MALT1 deficiency 397968 Charcot-Marie-Tooth disease type 2R 397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 398053 Adenocarcinoma of the penis 398058 Squamous cell carcinoma of the penis 398063 Refractory celiac disease 398069 MAGEL2-related Prader-Willi-like syndrome 398079 SIM1-related Prader-Willi-like syndrome 398088 Hereditary cryohydrocytosis with normal stomatin 398097 Neonatal antiphospholipid syndrome 398109 Neonatal autoimmune hemolytic anemia 398117 Neonatal dermatomyositis 398124 Neonatal lupus erythematosus 398127 Neonatal scleroderma 398147 Persistent idiopathic facial pain 398156 Oculoauriculofrontonasal syndrome 398166 Focal facial dermal dysplasia 398173 Focal facial dermal dysplasia type II 398189 Focal facial dermal dysplasia type IV 398961 Mucinous adenocarcinoma of ovary 398971 Clear cell adenocarcinoma of the ovary 398987 Malignant teratoma of ovary 399058 Alpha-B crystallin-related late-onset myopathy 399081 KLHL9-related early-onset distal myopathy 399086 Finnish upper limb-onset distal myopathy 399096 Distal anoctaminopathy 399103 Distal nebulin myopathy 399175 Traumatic avascular necrosis 399180 Secondary non-traumatic avascular necrosis 399293 Osteonecrosis of the jaw 399307 Idiopathic avascular necrosis 399329 Epiphysiolysis of the hip 399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 399808 Male infertility with teratozoospermia due to single gene mutation 401764 Pancytopenia-developmental delay syndrome 401768 Proximal myopathy with extrapyramidal signs 401777 Optic atrophy-intellectual disability syndrome 401780 Autosomal recessive spastic paraplegia type 61 401785 Autosomal recessive spastic paraplegia type 62 401795 Autosomal recessive spastic paraplegia type 59 401800 Autosomal recessive spastic paraplegia type 60 401805 Autosomal recessive spastic paraplegia type 63 401810 Autosomal recessive spastic paraplegia type 64 401815 Autosomal recessive spastic paraplegia type 66 401820 Autosomal recessive spastic paraplegia type 67 401830 Autosomal recessive spastic paraplegia type 69 401835 Autosomal recessive spastic paraplegia type 70 401840 Autosomal recessive spastic paraplegia type 71 401849 Autosomal spastic paraplegia type 72 401859 Lipoic acid synthetase deficiency 401862 Lipoyl transferase 1 deficiency 401866 Childhood-onset spasticity with hyperglycinemia 401869 Multiple mitochondrial dysfunctions syndrome type 1 401874 Multiple mitochondrial dysfunctions syndrome type 2 401901 Huntington disease-like syndrome due to C9ORF72 expansions 401911 AXIN2-related attenuated familial adenomatous polyposis 401920 Fibrolamellar hepatocellular carcinoma 401923 9q31.1q31.3 microdeletion syndrome 401935 14q24.1q24.3 microdeletion syndrome 401942 Familial median cleft of the upper and lower lips 401945 Moyamoya disease with early-onset achalasia 401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 401953 Episodic ataxia with slurred speech 401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons 401973 MEND syndrome 401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 401986 1p31p32 microdeletion syndrome 401996 Karyomegalic interstitial nephritis 402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 402014 Acute myeloid leukemia with t(6;9)(p23;q34) 402017 Acute myeloid leukemia with t(9;11)(p22;q23) 402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) 402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) 402026 Acute myeloid leukemia with NPM1 somatic mutations 402035 Eosinophilic colitis 402041 Autosomal recessive distal renal tubular acidosis 402075 Familial bicuspid aortic valve 402082 Progressive myoclonic epilepsy type 5 402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 402823 Hepatitis delta 404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome 404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 404443 Tatton-Brown-Rahman syndrome 404448 ADNP syndrome 404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 404454 Alacrimia-choreoathetosis-liver dysfunction syndrome 404463 Multisystemic smooth muscle dysfunction syndrome 404466 Female infertility due to zona pellucida defect 404473 Severe intellectual disability-progressive spastic diplegia syndrome 404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome 404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency 404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency 404507 Chondromyxoid fibroma 404511 Clear cell papillary renal cell carcinoma 404514 Acquired cystic disease-associated renal cell carcinoma 404521 Spinal muscular atrophy with respiratory distress type 2 404546 DITRA 404553 Adenosine deaminase 2 deficiency 404560 Familial atypical multiple mole melanoma syndrome 411493 Pontocerebellar hypoplasia type 10 411501 Williams-Campbell syndrome 411511 Angelman syndrome due to a point mutation 411515 Angelman syndrome due to imprinting defect in 15q11-q13 411527 Central retinal vein occlusion 411536 Mild phosphoribosylpyrophosphate synthetase superactivity 411543 Severe phosphoribosylpyrophosphate synthetase superactivity 411590 Wolfram-like syndrome 411593 Insulin autoimmune syndrome 411602 Hereditary late-onset Parkinson disease 411629 Infantile nephropathic cystinosis 411634 Juvenile nephropathic cystinosis 411641 Ocular cystinosis 411696 Proton-pump inhibitor-responsive esophageal eosinophilia 411703 Pulmonary non-tuberculous mycobacterial infection 411709 Renal agenesis 411712 Maternal riboflavin deficiency 411777 Generalized eruptive keratoacanthoma 411788 Familial isolated trichomegaly 411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome 412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 412035 13q12.3 microdeletion syndrome 412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency 412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments 412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome 412181 Epidermolysis bullosa simplex due to BP230 deficiency 412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency 412206 Primary failure of tooth eruption 412217 Dystonia-aphonia syndrome 418945 Carcinoma of esophagus, salivary gland type 418951 Undifferentiated carcinoma of esophagus 418959 Squamous cell carcinoma of the stomach 420179 Malan overgrowth syndrome 420259 Secondary pulmonary alveolar proteinosis 420402 Semicircular canal dehiscence syndrome 420429 Glycogen storage disease due to acid maltase deficiency, late-onset 420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement 420492 Adult-onset cervical dystonia, DYT23 type 420556 Visual snow syndrome 420561 Temple-Baraitser syndrome 420566 Bleeding disorder due to CalDAG-GEFI deficiency 420573 Severe combined immunodeficiency due to CTPS1 deficiency 420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 420611 Transient myeloproliferative syndrome 420686 Woolly hair-palmoplantar keratoderma syndrome 420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency 420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 420728 Combined oxidative phosphorylation defect type 20 420733 Combined oxidative phosphorylation defect type 21 420741 RIDDLE syndrome 420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea 420794 Cono-spondylar dysplasia 422526 Hereditary clear cell renal cell carcinoma 423275 Spinocerebellar ataxia type 40 423296 Spinocerebellar ataxia type 38 423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome 423384 Severe congenital neutropenia due to JAGN1 deficiency 423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 423461 Mucolipidosis type III alpha/beta 423470 Mucolipidosis type III gamma 423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency 423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect 423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 423717 Cutaneous larva migrans 423786 Undifferentiated carcinoma of stomach 423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome 423968 Squamous cell carcinoma of the small intestine 423994 Squamous cell carcinoma of the colon 424002 Squamous cell carcinoma of the rectum 424016 Adenocarcinoma of the anal canal 424019 Squamous cell carcinoma of the anal canal 424027 Progressive myoclonic epilepsy type 8 424039 Squamous cell carcinoma of pancreas 424046 Acinar cell carcinoma of pancreas 424053 Mucinous cystadenocarcinoma of the pancreas 424058 Intraductal papillary mucinous carcinoma of pancreas 424065 Solid pseudopapillary carcinoma of pancreas 424073 Serous cystadenocarcinoma of pancreas 424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas 424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome 424107 Congenital myopathy with myasthenic-like onset 424261 TOR1AIP1-related limb-girdle muscular dystrophy 424943 Adenocarcinoma of the liver and intrahepatic biliary tract 424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract 424975 Squamous cell carcinoma of liver and intrahepatic biliary tract 424982 Biliary cystadenocarcinoma 424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract 424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract 425120 STING-associated vasculopathy with onset in infancy 431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 431149 Combined immunodeficiency due to OX40 deficiency 431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 431255 Scapuloperoneal spinal muscular atrophy 431272 X-linked scapuloperoneal muscular dystrophy 431329 Autosomal recessive spastic paraplegia type 57 431341 Patent urachus 431344 Urachal sinus 431347 Urachal diverticulum 431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency 434179 Orofaciodigital syndrome type 14 435329 Familial ossifying fibroma 435372 Anterior urethral valve 435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y 435438 Progressive myoclonic epilepsy type 7 435628 Keppen-Lubinsky syndrome 435638 3p25.3 microdeletion syndrome 435651 CIDEC-related familial partial lipodystrophy 435660 LIPE-related familial partial lipodystrophy 435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome 435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation 435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome 435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 435934 COG2-CDG 435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 435953 Progeroid features-hepatocellular carcinoma predisposition syndrome 435988 Chronic atrial and intestinal dysrhythmia syndrome 435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D 436003 Contractures-developmental delay-Pierre Robin syndrome 436141 HIDEA syndrome 436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome 436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome 436169 Thrombomodulin-related bleeding disorder 436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 436182 Microcephalic primordial dwarfism-insulin resistance syndrome 436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease 436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 436252 Combined immunodeficiency-enteropathy spectrum 436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency 438114 RARS-related autosomal recessive hypomyelinating leukodystrophy 438117 Steel syndrome 438134 PCNA-related progressive neurodegenerative photosensitivity syndrome 438159 STAT3-related early-onset multisystem autoimmune disease 438178 Fatty acyl-CoA reductase 1 deficiency 438207 Severe autosomal recessive macrothrombocytopenia 438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 438266 Progressive encephalomyelitis with rigidity and myoclonus 438274 GCGR-related hyperglucagonemia 438279 Human infection by orthopoxvirus 439167 Placental insufficiency 439175 Pediatric arterial ischemic stroke 439196 Zinc-responsive necrolytic acral erythema 439202 Non-recovering obstetric brachial plexus lesion 439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 439218 KCNQ2-related epileptic encephalopathy 439224 ALECT2 amyloidosis 439232 AApoAIV amyloidosis 439254 ITM2B amyloidosis 439729 Cutaneous polyarteritis nodosa 439737 Primary polyarteritis nodosa 439746 Secondary polyarteritis nodosa 439755 Single-organ polyarteritis nodosa 439762 Systemic polyarteritis nodosa 439822 PDE4D haploinsufficiency syndrome 439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease 439881 Plastic bronchitis 439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 440221 Congenital oculomotor nerve palsy 440233 Congenital abducens nerve palsy 440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 440368 Necrotizing soft tissue infection 440392 Interstitial lung disease due to SP-C deficiency 440402 Interstitial lung disease due to ABCA3 deficiency 440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 440437 Familial colorectal cancer Type X 440706 Ribose-5-P isomerase deficiency 440713 Isolated sedoheptulokinase deficiency 440724 Extensive peripapillary myelinated nerve fibers 440727 Combined hamartoma of the retina and retinal pigment epithelium 440731 L-ferritin deficiency 440987 Isolated agenesis of gallbladder 441447 Early-onset posterior subcapsular cataract 441452 Early-onset lamellar cataract 442582 AH amyloidosis 442835 Non-specific early-onset epileptic encephalopathy 443057 Sporadic porphyria cutanea tarda 443062 Familial porphyria cutanea tarda 443070 Hemicrania continua 443073 Charcot-Marie-Tooth disease type 2S 443079 Central serous chorioretinopathy 443084 Baroreflex failure 443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency 443098 Hyperostosis cranialis interna 443101 Hypothalamic adipsic hypernatraemia syndrome 443159 Lymphoplasmacytic lymphoma without IgM production 443162 NDE1-related microhydranencephaly 443167 NUT midline carcinoma 443173 Postpartum psychosis 443180 Spontaneous intracranial hypotension 443192 Classic stiff person syndrome 443197 X-linked erythropoietic protoporphyria 443227 Paratyphoid fever 443236 Postural orthostatic tachycardia syndrome due to NET deficiency 443291 HIV-associated cancer 443804 Focal stiff limb syndrome 443811 PGM3-CDG 443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 443988 Ventriculomegaly-cystic kidney disease 443995 Mandibulofacial dysostosis with alopecia 444002 11q22.2q22.3 microdeletion syndrome 444013 Combined oxidative phosphorylation defect type 23 444048 46,XX ovarian dysgenesis-short stature syndrome 444051 20q11.2 microdeletion syndrome 444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 444072 Cerebellar-facial-dental syndrome 444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome 444092 Autoimmune interstitial lung disease-arthritis syndrome 444099 Autosomal dominant spastic paraplegia type 73 444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome 444316 Idiopathic phalangeal acro-osteolysis 444458 Combined oxidative phosphorylation defect type 24 444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency 444490 Familial chylomicronemia syndrome 445018 Combined immunodeficiency due to LRBA deficiency 445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome 445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 445110 Limb-girdle muscular dystrophy due to POMK deficiency 447731 NIK deficiency 447737 Combined immunodeficiency due to DOCK2 deficiency 447740 Susceptibility to localized juvenile periodontitis 447753 Autosomal dominant spastic paraplegia type 9A 447757 Autosomal dominant spastic paraplegia type 9B 447760 Autosomal recessive spastic paraplegia type 9B 447764 IgG4-related sclerosing cholangitis 447774 Secondary sclerosing cholangitis 447777 Keratocystic odontogenic tumor 447784 Mitochondrial pyruvate carrier deficiency 447788 Cerebral visual impairment 447795 Lipoyl transferase 2 deficiency 447877 Polymerase proofreading-related adenomatous polyposis 447881 Idiopathic dropped head syndrome 447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome 447896 Tremor-ataxia-central hypomyelination syndrome 447954 Combined oxidative phosphorylation defect type 25 447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome 447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V 447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 447977 Progressive scapulohumeroperoneal distal myopathy 447980 19p13.3 microduplication syndrome 447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 448010 CAD-CDG 448237 Zika virus disease 448242 Autosomal recessive brachyolmia 448251 Progressive autosomal recessive ataxia-deafness syndrome 448264 Isolated focal non-epidermolytic palmoplantar keratoderma 448267 Regressive spondylometaphyseal dysplasia 448270 Ectopia cordis 449266 Pleural empyema 449280 Scedosporiosis 449285 Snakebite envenomation 449291 Symptomatic form of fragile X syndrome in female carriers 449395 IgG4-related kidney disease 449400 IgG4-related aortitis 449427 IgG4-related pachymeningitis 449432 IgG4-related submandibular gland disease 449563 IgG4-related ophthalmic disease 449566 Eosinophilic angiocentric fibrosis 450322 Polyclonal hyperviscosity syndrome 451602 Primary cutaneous plasmacytosis 451607 Cutaneous pseudolymphoma 451612 Familial congenital nasolacrimal duct obstruction 453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome 453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation 453510 Congenital insensitivity to pain with severe intellectual disability 453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 453533 Polyendocrine-polyneuropathy syndrome 454706 Progressive muscular atrophy 454710 Anti-p200 pemphigoid 454714 Plasma cell leukemia 454718 Holmes-Adie syndrome 454723 Endometrioid carcinoma of ovary 454742 Variably protease-sensitive prionopathy 454745 Kuru 454750 Isolated tracheoesophageal fistula 454821 Pleomorphic salivary gland adenoma 454831 Acute radiation syndrome 454836 Avian influenza 454840 NTHL1-related attenuated familial adenomatous polyposis 454887 Corticobasal syndrome 456298 1p35.2 microdeletion syndrome 456312 Infantile multisystem neurologic-endocrine-pancreatic disease 456318 Hereditary sensory neuropathy-deafness-dementia syndrome 456328 X-linked myotubular myopathy-abnormal genitalia syndrome 456333 Hereditary neuroendocrine tumor of small intestine 456369 Polyglucosan body myopathy type 2 457050 Autosomal dominant mitochondrial myopathy with exercise intolerance 457077 TAFRO syndrome 457083 Isolated splenogonadal fusion 457088 Predisposition to invasive fungal disease due to CARD9 deficiency 457095 Actinomycosis 457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 457240 X-linked intellectual disability-short stature-overweight syndrome 457246 Clear cell sarcoma of kidney 457260 X-linked intellectual disability-hypotonia-movement disorder syndrome 457265 Progressive myoclonic epilepsy type 9 457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 457378 Complex lethal osteochondrodysplasia 457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 457406 Multiple mitochondrial dysfunctions syndrome type 4 457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 458718 Idiopathic spontaneous coronary artery dissection 458758 Composite hemangioendothelioma 458763 Retiform hemangioendothelioma 458768 Papillary intralymphatic angioendothelioma 458785 Partially involuting congenital hemangioma 458792 Mixed cystic lymphatic malformation 458798 Spinocerebellar ataxia type 41 458803 Spinocerebellar ataxia type 42 459033 Ataxia-oculomotor apraxia type 4 459051 Spondyloepiphyseal dysplasia, Stanescu type 459056 Autosomal recessive spastic paraplegia type 75 459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome 459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome 464288 Short stature-brachydactyly-obesity-global developmental delay syndrome 464306 DYRK1A-related intellectual disability syndrome 464311 Intellectual disability syndrome due to a DYRK1A point mutation 464318 Verrucous hemangioma 464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome 464329 Kaposiform lymphangiomatosis 464336 BENTA disease 464343 Catastrophic antiphospholipid syndrome 464359 Benign metanephric tumor 464366 NEK9-related lethal skeletal dysplasia 464370 Neonatal alloimmune neutropenia 464440 Primary dystonia, DYT27 type 464443 COG6-CGD 464453 Acquired methemoglobinemia 464458 Paracetamol poisoning 464724 Fever-associated acute infantile liver failure syndrome 464738 Basel-Vanagaite-Smirin-Yosef syndrome 464756 Familial gastric type 1 neuroendocrine tumor 464760 Familial cavitary optic disc anomaly 465508 Symptomatic form of HFE-related hemochromatosis 465824 Fetal encasement syndrome 466026 Class I glucose-6-phosphate dehydrogenase deficiency 466650 Exercise-induced malignant hyperthermia 466670 Cyanide poisoning 466677 Scorpion envenomation 466682 Euthyroid Graves orbitopathy 466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 466695 Supratip dysplasia 466703 TMEM199-CDG 466718 Martinique crinkled retinal pigment epitheliopathy 466722 Autosomal recessive spastic paraplegia type 77 466729 Familial patent arterial duct 466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z 466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X 466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect 466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome 466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 466806 Autosomal dominant thrombocytopenia with platelet secretion defect 466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome 466926 Seizures-scoliosis-macrocephaly syndrome 466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy 466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation 466962 SMARCA4-deficient sarcoma of thorax 467166 Tubulinopathy-associated dysgyria 467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 468620 Intellectual disability-epilepsy-extrapyramidal syndrome 468631 Microcephalic cortical malformations-short stature due to RTTN deficiency 468635 Cryptogenic multifocal ulcerous stenosing enteritis 468641 Chronic enteropathy associated with SLCO2A1 gene 468661 Autosomal recessive spastic paraplegia type 74 468666 Isolated generalized anhidrosis with normal sweat glands 468672 Colobomatous macrophthalmia-microcornea syndrome 468678 White-Sutton syndrome 468684 CCDC115-CDG 468699 SLC39A8-CDG 468717 Rhizomelic chondrodysplasia punctata type 5 468726 Severe primary trimethylaminuria 476084 BVES-related limb-girdle muscular dystrophy 476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 476096 Erythrokeratodermia-cardiomyopathy syndrome 476113 Combined immunodeficiency due to TFRC deficiency 476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 476394 PMP2-related Charcot-Marie-Tooth disease type 1 476406 Congenital generalized hypercontractile muscle stiffness syndrome 477650 Fibroblastic rheumatism 477661 IL21-related infantile inflammatory bowel disease 477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome 477684 Combined oxidative phosphorylation defect type 26 477738 Pediatric multiple sclerosis 477742 Nodular fasciitis 477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy 477774 Combined oxidative phosphorylation defect type 27 477781 Primary condylar hyperplasia 477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 477817 PMP22-RAI1 contiguous gene duplication syndrome 477831 Kosaki overgrowth syndrome 477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 478029 Combined oxidative phosphorylation defect type 29 478042 Combined oxidative phosphorylation defect type 30 478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 478664 Hereditary sensory and autonomic neuropathy type 8 480476 Progressive familial intrahepatic cholestasis type 5 480483 Progressive familial intrahepatic cholestasis type 4 480491 MYO5B-related progressive familial intrahepatic cholestasis 480501 Choledochal cyst 480506 Primary intrahepatic lithiasis 480512 Idiopathic ductopenia 480520 Caroli syndrome 480524 Idiopathic peliosis hepatis 480528 Lethal hydranencephaly-diaphragmatic hernia syndrome 480531 Congenital portosystemic shunt 480536 MSH3-related attenuated familial adenomatous polyposis 480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement 480553 Aneurysmal bone cyst 480556 Isolated neonatal sclerosing cholangitis 480682 POGLUT1-related limb-girdle muscular dystrophy R21 480701 Facial diplegia with paresthesias 480851 Hereditary thrombocytopenia with early-onset myelofibrosis 480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome 481152 PYCR2-related microcephaly-progressive leukoencephalopathy 481662 Familial Chilblain lupus 481665 USP18 deficiency 481986 Familial schizencephaly 482077 HTRA1-related autosomal dominant cerebral small vessel disease 482601 Adenylosuccinate synthetase-like 1-related distal myopathy 482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 485275 Acquired schizencephaly 485350 CLCN4-related X-linked intellectual disability syndrome 485358 Propylthiouracil embryofetopathy 485405 16p12.1p12.3 triplication syndrome 485418 EMILIN-1-related connective tissue disease 485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect 485426 Isolated congenital hepatic fibrosis 486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures 486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 487796 Takenouchi-Kosaki syndrome 487809 Pediatric collagenous gastritis 487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 487825 Pierpont syndrome 488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome 488191 Female infertility due to oocyte meiotic arrest 488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 488232 Split-foot malformation-mesoaxial polydactyly syndrome 488239 Acute macular neuroretinopathy 488265 Osteofibrous dysplasia 488280 14q32 duplication syndrome 488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W 488434 Camptodactyly syndrome, Guadalajara type 3 488437 SIX2-related frontonasal dysplasia 488586 Congenital amyoplasia 488594 Autosomal recessive spastic paraplegia type 76 488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 488618 Transketolase deficiency 488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 488632 TBCK-related intellectual disability syndrome 488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome 488642 TELO2-related intellectual disability-neurodevelopmental disorder 488647 DDX41-related hematologic malignancy predisposition syndrome 488650 Distal myopathy, Tateyama type 493342 Vibratory urticaria 494344 RERE-related neurodevelopmental syndrome 494418 Vulvar carcinoma 494421 Sacrococcygeal teratoma 494424 Extracranial carotid artery aneurysm 494428 Idiopathic pleuroparenchymal fibroelastosis 494433 MIRAGE syndrome 494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 494448 Vulvar squamous cell carcinoma 494451 Vulvar basal cell carcinoma 494454 Vulvar adenocarcinoma 494526 Infantile-onset generalized dyskinesia with orofacial involvement 494541 Childhood-onset benign chorea with striatal involvement 494547 Squamous cell carcinoma of the hypopharynx 494550 Squamous cell carcinoma of the larynx 495274 Charcot-Marie-Tooth disease type 2T 495818 9q33.3q34.11 microdeletion syndrome 495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 495879 Congenital agenesis of the scrotum 495930 Familial monosomy 7 syndrome 496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome 496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 496751 EVEN-plus syndrome 496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome 497188 Diffuse intrinsic pontine glioma 497737 Epidermolytic nevus 497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 497764 Spinocerebellar ataxia type 43 497906 Childhood-onset basal ganglia degeneration syndrome 498228 Phyllodes tumor of the prostate 498251 Menstrual cycle-dependent periodic fever 498359 Aquagenic palmoplantar keratoderma 498474 Hyaline fibromatosis syndrome 498481 LRP5-related primary osteoporosis 498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome 498488 Overgrowth syndrome with 2q37 translocation 498494 Mirror-image polydactyly 498497 Short rib-polydactyly syndrome type 5 498602 Sugarman brachydactyly 498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 499009 Congenital syphilis 499085 Chronic relapsing inflammatory optic neuritis 499096 Isolated optic neuritis 499103 Recurrent idiopathic neuroretinitis 499107 Idiopathic optic perineuritis 499182 Pilomatrix carcinoma 500055 Hao-Fountain syndrome due to 16p13.2 microdeletion 500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome 500095 Tall stature-intellectual disability-renal anomalies syndrome 500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome 500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom 500163 Witteveen-Kolk syndrome 500166 SIN3-related intellectual disability syndrome due to a point mutation 500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses 500478 Squamous cell carcinoma of the oropharynx 500481 Squamous cell carcinoma of salivary glands 500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome 500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract 500548 Osteosclerotic metaphyseal dysplasia 502305 Cochleovestibular malformation 502318 Cochlear nerve deficiency 502363 Squamous cell carcinoma of the oral cavity 502366 Squamous cell carcinoma of the lip 502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 502430 Weiss-Kruszka Syndrome 502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome 502437 4q25 proximal deletion syndrome 502444 Alkaline ceramidase 3 deficiency 502499 Erythema multiforme major 504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 504523 Severe combined immunodeficiency due to LAT deficiency 504530 Combined immunodeficiency due to Moesin deficiency 505208 3-methylglutaconic aciduria type 8 505216 3-methylglutaconic aciduria type 9 505227 Combined immunodeficiency due to GINS1 deficiency 505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome 505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders 505395 Ventilator-induced diaphragmatic dysfunction 505652 CDKL5-deficiency disorder 506075 Non-functioning neuroendocrine tumor of pancreas 506090 Serotonin-producing neuroendocrine tumor of pancreas 506098 Neuroendocrine carcinoma of pancreas 506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas 506136 Neuroendocrine neoplasm of esophagus 506307 Stromme syndrome 506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency 506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 506358 Gabriele-de Vries syndrome 506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome 508093 MEPAN syndrome 508410 Familial intestinal malrotation 508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 508488 8q24.3 microdeletion syndrome 508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 508501 Oral-facial-digital syndrome with short stature and brachymesophalangy 508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 508523 Hyperphenylalaninemia due to DNAJC12 deficiency 508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy 508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 512017 Chronic lymphoproliferative disorder of natural killer cells 512103 Autosomal recessive epidermolytic ichthyosis 512260 Congenital cerebellar ataxia due to RNU12 mutation 513436 Autosomal recessive spastic paraplegia type 78 513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome 514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 519384 Congenital cystic eye 519386 Isolated congenital entropion 519388 Autosomal recessive anterior segment dysgenesis 519390 Isolated blepharochalasis 519392 Isolated iridoschisis 519396 Isolated microspherophakia 519398 Isolated foveal hypoplasia 519400 Peripapillary staphyloma 519402 Isolated megalopapilla 519404 Optic disc pit 519406 Thygeson superficial punctate keratitis 519408 Mooren ulcer 519410 Terrien marginal degeneration 519930 Fungal keratitis 521123 Radiation-induced plexopathy 521127 Osteoradionecrosis of the mandible 521219 Mirizzi syndrome 521258 Xq25 microduplication syndrome 521305 Proximal myopathy with focal depletion of mitochondria 521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome 521406 Dystonia-parkinsonism-hypermanganesemia syndrome 521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect 521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD 521426 PLAA-associated neurodevelopmental disorder 521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 521438 Congenital vertebral-cardiac-renal anomalies syndrome 521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 521450 LAMA5-related multisystemic syndrome 522037 Primary autoimmune enteropathy 522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 525731 Pediatric-onset Graves disease 525738 Prepubertal anorexia nervosa 527276 Encephalopathy due to mitochondrial and peroxisomal fission defect 527450 Severe myopia-generalized joint laxity-short stature syndrome 527468 Diaphragmatic hernia-short bowel-asplenia syndrome 527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 528084 Non-specific syndromic intellectual disability 528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome 528623 Hereditary angioedema with C1Inh deficiency 528647 Hereditary angioedema with normal C1Inh 528663 Acquired angioedema with C1Inh deficiency 529468 Monoclonal mast cell activation syndrome 529574 Duane retraction syndrome with congenital deafness 529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome 529799 Acute bilirubin encephalopathy 529808 Chronic bilirubin encephalopathy 529831 Letrozole toxicity 529852 Combined hepatocellular carcinoma and cholangiocarcinoma 529864 Secondary erythromelalgia 529962 17q24.2 microdeletion syndrome 529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome 529970 Male infertility due to acephalic spermatozoa 529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome 530033 Dermoid or epidermoid cyst of the central nervous system 530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies 530303 Progressive dementia with neuroserpin inclusion bodies 530792 RELA fusion-positive ependymoma 530838 KRT1-related diffuse nonepidermolytic keratoderma 530849 Familial apolipoprotein A5 deficiency 530983 Lamb-Shaffer syndrome 530995 Mixed phenotype acute leukemia 531151 9q21.13 microdeletion syndrome 535453 Familial lipase maturation factor 1 deficiency 535458 Familial GPIHBP1 deficiency 536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 536471 Spondylodysplastic Ehlers-Danlos syndrome 536516 Myopathic Ehlers-Danlos syndrome 536532 Classical-like Ehlers-Danlos syndrome type 2 536545 Kyphoscoliotic Ehlers-Danlos syndrome 537072 PLG-related hereditary angioedema with normal C1Inh 538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy 538101 Congenital axonal neuropathy with encephalopathy 538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 538756 Familial multiple discoid fibromas 538863 Classic pyoderma gangrenosum 538866 Pustular pyoderma gangrenosum 538869 Bullous pyoderma gangrenosum 538872 Vegetative pyoderma gangrenosum 538931 X-linked lymphoproliferative disease due to SAP deficiency 538934 X-linked lymphoproliferative disease due to XIAP deficiency 538958 Combined immunodeficiency due to CD70 deficiency 538963 Combined immunodeficiency due to ITK deficiency 541423 Growth delay-intellectual disability-hepatopathy syndrome 541443 Anomalous aortic origin of the left coronary artery 541454 Anomalous aortic origin of the right coronary artery 541507 Anomalous origin of coronary artery from the pulmonary artery 542301 Combined immunodeficiency due to CARMIL2 deficiency 542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome 542310 Leukoencephalopathy with calcifications and cysts 542323 CAR T cell therapy-associated cytokine release syndrome 542568 Quadricuspid aortic valve 542585 Auditory neuropathy-optic atrophy syndrome 542592 Necrobiosis lipoidica 542643 Livedoid vasculopathy 542657 Isolated hyperchlorhidrosis 543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 544254 SYNGAP1-related developmental and epileptic encephalopathy 544469 PRUNE1-related neurological syndrome 544472 Atypical hemolytic uremic syndrome with complement gene abnormality 544482 Infection-related hemolytic uremic syndrome 544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome 544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome 544503 RNF13-related severe early-onset epileptic encephalopathy 544578 Congenital primary megaureter, refluxing and obstructed form 544602 Congenital myopathy with reduced type 2 muscle fibers 544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome 555402 NAD(P)HX dehydratase deficiency 555407 NAD(P)HX epimerase deficiency 555434 Fibrohistiocytic inflammatory pseudotumor of the liver 555437 Lymphoplasmacytic inflammatory pseudotumor of the liver 555874 Congenital tricuspid valve dysplasia 555877 FLNA-related X-linked myxomatous valvular dysplasia 555905 IgA pemphigus 556030 Early-onset familial hypoaldosteronism 556037 Late-onset familial hypoaldosteronism 556955 Pancreatic agenesis-holoprosencephaly syndrome 556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia 557003 Oculoskeletodental syndrome 557056 Spastic ataxia-dysarthria due to glutaminase deficiency 557064 Neonatal epileptic encephalopathy due to glutaminase deficiency 558411 Idiopathic gastroparesis 561854 FOXG1 syndrome 562509 Heme oxygenase-1 deficiency 562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome 562538 Autosomal recessive extra-oral halitosis 562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome 562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome 562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome 563576 Autoimmune hepatitis type 1 563581 Autoimmune hepatitis type 2 563589 Seronegative autoimmune hepatitis 563609 Isolated anencephaly 563612 Isolated exencephaly 563666 Serous cystadenoma of childhood 563671 Mucinous cystadenoma of childhood 563676 Seromucinous cystadenoma of childhood 563684 Furuncular myiasis due to Dermatobia hominis 563687 Furuncular myiasis due to Cordylobia anthropophaga 563690 Furuncular myiasis due to Cordylobia rodhaini 563708 Syndromic congenital sodium diarrhea 563951 Isolated congenital aglossia 563954 Isolated congenital hypoglossia 563991 Osteochondrosis of the tarsal bone 564003 Osteochondrosis of the metatarsal bone 564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome 565612 Primary triglyceride deposit cardiomyovasculopathy 565624 Combined oxidative phosphorylation defect type 39 565641 Primary desmosis coli 565782 Methotrexate toxicity 565788 Infantile inflammatory bowel disease with neurological involvement 565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome 565899 POMGNT2-related limb-girdle muscular dystrophy R24 565909 Calpain-3-related limb-girdle muscular dystrophy D4 566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome 566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome 566192 Congenital autosomal recessive small-platelet thrombocytopenia 566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha 566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 566393 Acute mast cell leukemia 566396 Chronic mast cell leukemia 566841 Liver adenomatosis 566847 Aprosencephaly/atelencephaly spectrum 566852 Atelencephaly 566857 Aprosencephaly 566862 Left sided atrial isomerism 566943 Mueller-Weiss syndrome 567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome 567544 Idiopathic non-lupus full-house nephropathy 567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance 567548 Idiopathic steroid-resistant nephrotic syndrome 567550 Idiopathic multidrug-resistant nephrotic syndrome 567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy 567983 Parenteral nutrition-associated cholestasis 568051 GJC2-related late-onset primary lymphedema 568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 568065 EPHB4-related lymphatic-related hydrops fetalis 569164 Angiomatoid fibrous histiocytoma 569248 Microcystic stromal tumor 569274 Multiple mitochondrial dysfunctions syndrome type 5 569290 Multiple mitochondrial dysfunctions syndrome type 6 569816 CELSR1-related late-onset primary lymphedema 569821 Congenital primary lymphedema of Gordon 570371 Bartter syndrome type 5 570422 Galactose mutarotase deficiency 570431 Idiopathic multicentric Castleman disease 570438 HHV-8-associated multicentric Castleman disease 570470 Ricin poisoning 570491 QRSL1-related combined oxidative phosphorylation defect 570762 Infective endocarditis 572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome 572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus 572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 572385 Brachydactyly type B1 572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia 572543 RFVT2-related riboflavin transporter deficiency 572550 RFVT3-related riboflavin transporter deficiency 572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum 572768 Microcephaly-micromelia syndrome 572773 Microcephaly-short stature-limb abnormalities syndrome 572798 WARS2-related combined oxidative phosphorylation defect 573253 Split cord malformation type II 574918 Predisposition to severe viral infection due to IRF7 deficiency 574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy 576074 Middle East respiratory syndrome 576227 Complete atrioventricular septal defect without ventricular hypoplasia 576232 Partial atrioventricular septal defect with ventricular hypoplasia 576235 Partial atrioventricular septal defect without ventricular hypoplasia 576242 Intermediate atrioventricular septal defect 576278 SATB2-associated syndrome 576283 SATB2-associated syndrome due to a pathogenic variant 576349 NLRC4-related familial cold autoinflammatory syndrome 576370 Variant Creutzfeldt-Jakob disease 576379 Iatrogenic Creutzfeldt-Jakob disease 580572 Intraductal tubulopapillary neoplasm of pancreas 580933 Lethal brain and heart developmental defects 580940 QRICH1-related intellectual disability-chondrodysplasia syndrome 580951 Punctate inner choroidopathy 581271 Cramp-fasciculation syndrome 583097 Congenital infiltrating lipomatosis of the face 583595 Serine biosynthesis pathway deficiency, infantile/juvenile form 583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency 583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency 583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency 583856 Isolated splenic vein thrombosis 583861 Isolated mesenteric vein thrombosis 585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) 585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality 585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) 585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) 585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy 585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy 585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) 585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) 586130 Sporadic fatal insomnia 589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome 589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome 589515 PUM1-associated developmental disability-ataxia-seizure syndrome 589522 Spinocerebellar ataxia type 46 589527 Spinocerebellar ataxia type 45 589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement 589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 589595 Mixed phenotype acute leukemia with t(v;11q23.3) 589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 589618 Dystonia 28 589821 Congenital-onset Steinert myotonic dystrophy 589824 Childhood-onset Steinert myotonic dystrophy 589827 Juvenile-onset Steinert myotonic dystrophy 589830 Adult-onset Steinert myotonic dystrophy 589833 Late-onset Steinert myotonic dystrophy 589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 590539 Isolated melanotic schwannoma 592564 GNAO1-related developmental delay-seizures-movement disorder spectrum 592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 592574 Menke-Hennekam syndrome 592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies 592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies 592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies 592873 Acute transverse myelitis with anti-MOG antibodies 592894 Acute disseminated encephalomyelitis with anti-MOG antibodies 592900 Acute disseminated encephalomyelitis without anti-MOG antibodies 595098 Timothy syndrome type 1 595105 Timothy syndrome type 2 595109 Atypical Timothy syndrome 595133 Perivascular epithelioid cell neoplasm 595356 Localized dystrophic epidermolysis bullosa 596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis 596448 IgG4-related systemic disease 596753 VEXAS syndrome 596759 Combined immunodeficiency due to RELA haploinsufficiency 596937 Portosinusoidal vascular disease 596941 Incomplete septal cirrhosis 597201 TRIM22-related inflammatory bowel disease 597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome 597733 Oculocutaneous albinism type 8 597738 Luscan-Lumish syndrome 597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome 597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome 597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome 597887 ALPI-related inflammatory bowel disease 597939 Euthyroid dysprealbuminemic hyperthyroxinemia 598164 FOXG1 syndrome due to intragenic alteration 598216 Upper tract urothelial carcinoma 598363 Multisystem inflammatory syndrome in children and adults 598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome 599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome 599373 STXBP1-related encephalopathy 599376 Hypomyelination of early myelinating structures 599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant 599480 Acquired hemophilia A 599485 Acquired hemophilia B 599490 Acquired factor V deficiency 599495 Acquired factor VII deficiency 599501 Acquired factor X deficiency 599507 Acquired factor XI deficiency 599513 Acquired factor XIII deficiency 599519 Factor V short isoforms-related bleeding disorder 599579 Factor V Amsterdam bleeding disorder 600194 Factor V Atlanta bleeding disorder 600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance 600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 600691 Combined deficiency of factor VII and factor X 600731 Clark-Baraitser syndrome 600952 Non-syndromic anorectal malformation with perineal fistula 600961 Non-syndromic anorectal malformation with rectourethral fistula 600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type 600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type 600984 Non-syndromic anorectal malformation with rectovesical fistula 600993 Non-syndromic anorectal malformation with vestibular fistula 600998 Non-syndromic cloacal malformation 601002 Non-syndromic anorectal malformation without fistula 601008 Non-syndromic anorectal malformation with anal stenosis 601013 Non-syndromic anorectal malformation with pouch colon 601018 Non-syndromic anorectal malformation with rectal atresia 601023 Non-syndromic anorectal malformation with rectal stenosis 601028 Non-syndromic anorectal malformation with rectovaginal fistula 601033 Non-syndromic anorectal malformation with H-type fistula 603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome 603515 Isolated female hypospadias 603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome 603689 KLHL7-related Bohring-Opitz-like syndrome 603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome 604680 Symptomatic form of X-linked centronuclear myopathy in female carriers 610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome 610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome 611201 Oculogastrointestinal-neurodevelopmental syndrome 611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome 611216 Aplastic anemia-intellectual disability-dwarfism syndrome 611223 EN1-related dorsoventral syndrome 611237 Parkinsonism with polyneuropathy 611247 Pontocerebellar hypoplasia type 11 611256 Pontocerebellar hypoplasia type 12 613267 Pontocerebellar hypoplasia type 13 613274 Pontocerebellar hypoplasia type 14 615938 Spastic paraparesis-cataracts-speech delay syndrome 615943 Granuloma faciale 615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome 615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate 615970 Chronic intervillositis of unknown etiology 615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation 615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster 616874 Rare disorder without a determined diagnosis after full investigation 617294 Twin anemia-polycythemia sequence 617297 Twin-reversed arterial perfusion sequence 617301 Selective intrauterine growth restriction 617304 Amniotic fluid embolism 617408 Classic eosinophilic pustular folliculitis 617440 Painful legs and moving toes syndrome 617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome 617910 Conjunctival malignant melanoma 617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia 617919 F12-associated cold autoinflammatory syndrome 617930 Hemophilia B Leyden 618891 Chronic neurovisceral acid sphingomyelinase deficiency 619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome 619363 NOCARH syndrome 619367 SAMD9L-associated autoinflammatory syndrome 619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency 619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency 619953 Familial hyperinflammatory lymphoproliferative immunodeficiency 619972 CADINS disease 619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome 620102 Non-syndromic unicoronal craniosynostosis 620113 Non-syndromic unilambdoid craniosynostosis 620139 Non-syndromic unifrontosphenoidal craniosynostosis 620146 Non-syndromic unisquamosal craniosynostosis 620158 Non-syndromic non-specific multisutural craniosynostosis 620178 Non-syndromic bilambdoid craniosynostosis 620186 Non-syndromic unicoronal and sagittal craniosynostosis 620192 Non-syndromic metopic and sagittal craniosynostosis 620198 Non-syndromic bicoronal and metopic craniosynostosis 620205 Non-syndromic bicoronal and sagittal craniosynostosis 620212 Non-syndromic pansynostosis 620217 Bartter syndrome type 1 620220 Bartter syndrome type 2 620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome 620368 EGF-related primary hypomagnesemia with intellectual disability 620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation 621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome 622099 Superior mesenteric artery syndrome 622925 X-linked severe syndromic thoracic aortic aneurysm and dissection 622934 SBDS-related severe neonatal spondylometaphyseal dysplasia 623615 Autoimmune limbic encephalitis 623626 Paraneoplastic cerebellar degeneration 623695 MIR140-related spondyloepiphyseal dysplasia 623789 Body integrity dysphoria 623801 Acute flaccid myelitis 624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies 624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies 624190 Paraneoplastic isolated brainstem encephalitis 624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies 624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies 624244 Postinfectious cerebellitis 624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies 624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies 631068 Autosomal dominant spastic paraplegia type 80 631073 Autosomal recessive spastic paraplegia type 82 631076 Autosomal recessive spastic paraplegia type 83 631079 Autosomal recessive spastic paraplegia type 84 631082 Autosomal recessive spastic paraplegia type 85 631085 Autosomal recessive spastic paraplegia type 86 631088 Autosomal recessive spastic paraplegia type 87 631095 Spinocerebellar ataxia type 44 631103 Spinocerebellar ataxia type 48 631106 Spinocerebellar ataxia type 49 631248 Mitchell Syndrome 631251 Cancer of unknown primary site 632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome 633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome 633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome 633028 CPE-related Prader-Willi-like syndrome 633035 Intellectual disability-early-onset cataract-microcephaly syndrome 633076 Split cord malformation, composite type 633099 PAICS deficiency 633124 Invasive scopulariopsis infection 633211 Preaxial digit brachydactyly-webbed fingers 633228 Isolated proximal femoral focal deficiency 634461 Mosaic neurofibromatosis type 1 634475 Mosaic NF2-related schwannomatosis 634492 Mosaic schwannomatosis 634511 Mosaic Legius syndrome 636941 Vascular Ehlers-Danlos-polymicrogyria syndrome 636945 Invasive candidiasis 636950 Glaucomatocyclitic crisis disease 636955 Endemic pemphigus foliaceus 636965 Autosomal dominant myosin storage myopathy 636970 Autosomal recessive myosin storage myopathy 637013 SMARCA2-related blepharophimosis-intellectual disability syndrome 637051 Borna virus encephalitis 637061 Isolated optic nerve hypoplasia 637064 Isolated optic nerve aplasia 641350 Immunotherapy induced hypophysitis 641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome 641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome 641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency 641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) 641375 B-lymphoblastic leukemia/lymphoma with t(17;19) 641380 PAPASH syndrome 641385 PASS syndrome 641390 PsAPASH syndrome 641396 Central nervous system tuberculosis 641496 Childhood-onset schizophrenia 641829 Neonatal compartment syndrome 642071 Primary pulmonary vein stenosis 642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity 642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type 642671 Familial hyperaldosteronism type IV 642675 CHD8 overgrowth syndrome 642691 Fragile X-associated primary ovarian insufficiency 642747 PUM1-related cerebellar ataxia 642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation 642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma 642945 Perrault syndrome type 1 642954 Autosomal recessive ataxia due to PEX16 deficiency 642965 Autosomal recessive ataxia due to PEX2 deficiency 642976 Perrault syndrome type 2 643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome 643538 Hao-Fountain syndrome due to USP7 mutation 643549 Hao-Fountain syndrome 645188 Spinal dermal sinus 645285 Chaotic conus spinal cord lipoma 645288 Terminal extramedullary conus spinal cord lipoma 645291 Transitional extramedullary conus spinal cord lipoma 645294 Posterior extramedullary conus spinal cord lipoma 645297 Extramedullary conus spinal cord lipoma 645300 Lipomatous non-saccular limited dorsal myeloschisis 645310 Fibroneural non-saccular limited dorsal myeloschisis 645322 Isolated transitional filum lipoma 645325 Isolated filum lipoma 645334 Retained medullary cord 645337 Terminal myelocystocele 645340 Non-terminal myelocystocele 645343 Non-saccular limited dorsal myeloschisis 645350 Segmental arterial mediolysis 645354 Saccular limited dorsal myeloschisis 645359 Intramedullary non-dysraphic spinal cord lipoma 645362 Dorsal spinal cord lipoma 645378 Myelic limited dorsal malformation 645383 True myelomeningocele 645388 Hemi-myelomeningocele 645393 Hemi-myeloschisis 645398 Myeloschisis 645401 True myeloschisis 645613 Classical dermatomyositis 645617 Amyopathic dermatomyositis 645626 Adermatopathic dermatomyositis 645749 Congenital esophageal stenosis 645793 Spontaneous intestinal perforation 645807 Primary tuberculous lymphadenitis 645814 Primary pulmonary tuberculosis 645822 Primary bone and joint tuberculosis 645849 Primary cutaneous tuberculosis 645854 Multifocal tuberculosis 645859 Primary tuberculosis of the digestive system 645874 Primary genito-urinary tuberculosis 646113 Intermediate collagen VI-related muscular dystrophy 646136 Dysplastic cortical hyperostosis, Al-Gazali type 646139 Dysplastic cortical hyperostosis 646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome 647667 Mandibuloacral dysplasia associated to MTX2 647676 Multiple epiphyseal dysplasia type 7 647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome 647772 Isolated primary pigmented nodular adrenocortical disease 647782 Isolated micronodular adrenocortical disease 647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome 647794 Isolated persistent urogenital sinus 647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome 647804 Combined immunodeficiency due to FCHO1 deficiency 647811 Cardiac-urogenital syndrome 647815 Keratitis fugax hereditaria 647823 Idiopathic pregnancy-associated osteoporosis 647834 SLC40A1-related hemochromatosis 647916 Conjoined twins 648562 Ferroportin disease 648581 Digenic hemochromatosis 648665 Infectious scleritis 648675 Idiopathic scleritis 648681 Immune-mediated scleritis 648684 Central retinal artery occlusion 648919 Idiopathic catatonia 648992 Non-syndromic bridging bronchus 649010 Non-syndromic congenital bronchial atresia 649029 Isolated left bronchial isomerism 650077 Genetic central precocious puberty in female 650082 Secondary central precocious puberty in female 650087 Primary central precocious puberty in male 650092 Secondary central precocious puberty in male 650097 Genetic central precocious puberty in male 650102 Non-genetic central precocious puberty in male 652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome 652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation 652519 Cleft palate-congenital heart defect-intellectual disability syndrome 652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome 652528 Non-syndromic supernumerary kidneys 652532 Adult-onset progressive leukoencephalopathy-early-onset deafness 652650 Nodal T-follicular helper cell lymphoma, follicular type 652658 Monomorphic epitheliotropic intestinal T-cell lymphoma 652668 Primary superior vena cava aneurysm 652678 Primary inferior vena cava aneurysm 652681 Idiopathic subglottic stenosis 653698 Lymphocytic mastitis 653709 Cone rod dystrophy-short stature syndrome 653712 CHD4-related neurodevelopmental disorder 653722 Digenic Alport syndrome 653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 653728 Congenital insensitivity to pain syndrome, Marsili type 653751 X-linked combined immunodeficiency due to SASH3 deficiency 653767 Jansen-de Vries syndrome 653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 656071 Atrophic papulosis 656085 Benign atrophic papulosis 656126 Segmental spinal dysgenesis 656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome 656135 Intellectual disability-cupped ears syndrome 656279 1p36.33 duplication syndrome 656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency 656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency 656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency 656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency 656417 Embryonal tumor with multilayered rosettes 656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency 658540 16q22 deletion syndrome 658549 Idiopathic small fibers neuropathy 658574 Isolated pulmonary artery sling 658584 Rowell syndrome 658590 Eyelid sebaceous carcinoma 658595 DNMT3A-related microcephalic dwarfism 658602 Transplant-related bronchiolitis obliterans 658612 Non-transplant-related bronchiolitis obliterans 658778 COQ7-related distal hereditary motor neuropathy 658805 Greig cephalopolysyndactyly-contiguous gene syndrome 658810 Atrophoderma of Pasini and Pierini 658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency 658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome 658909 Fasciolopsiasis 658913 Paragonimiasis 658917 Clonorchiasis 658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency 658951 Early-onset immune dysregulation due to DOCK11 complete deficiency 659396 Cohen-Gibson syndrome 659463 Imagawa-Matsumoto syndrome 659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome 659626 Single isolated optic neuritis 659634 Relapsing isolated optic neuritis 659642 Rauch-Steindl syndrome 659672 Harderoporphyria 659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome 659707 Yersinia pseudotuberculosis infection 659744 Ocular surface squamous neoplasia 659756 Oroya fever 659759 Verruga peruana 659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome 659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome 659908 Glanders 659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome 660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation 660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome 660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 660053 Psittacosis 661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency 661526 MBD4-related tumor predisposition syndrome 662169 Phelan-McDermid syndrome due to 22q13.3 deletion 662172 Phelan-McDermid syndrome due to SHANK3 mutation 662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome 662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome 662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome 662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome 662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome 662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome 662216 Mucopolysaccharidosis type 10 662229 Episodic memory defect leukoencephalopathy 662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome 662240 Frey syndrome 662255 Grisel syndrome 662367 NESCAV syndrome 662376 Gastric duplication 662388 Gallbladder duplication 662392 Colonic duplication 662405 Pyloric duplication 662456 Small intestine duplication 662473 Duodenal duplication 662480 Jujeno-ileal duplication 662721 Placenta accreta spectrum disorder 662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome 662786 Vasa previa 662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome 662934 Acute megakaryoblastic leukemia in adult 664372 Soft and hard cleft palate 664377 MGP-related spondyloepiphyseal dysplasia 664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation 664404 6q25.1 microdeletion syndrome 664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome 664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation 664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome 664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome 664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency 664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency 664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency 664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency 664726 EBV-induced lymphoproliferative disease due to CD137 deficiency 664729 EBV-induced lymphoproliferative disease due to TET2 deficiency 664787 Nicolau syndrome 664901 Trigeminal trophic syndrome 664912 Neonatal renal venous thrombosis 664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome 665044 Common arterial trunk with aortic dominance 665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch 667589 Isolated congenital femoral bifurcation 667662 Breast implant-associated anaplastic large cell lymphoma 667678 Intraoral basal cell carcinoma 672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome 672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome 673525 Intravascular papillary endothelial hyperplasia 673538 Littoral cell hemangioma of the spleen 673543 Papillary hemangioma 673556 Pseudomyogenic hemangioendothelioma 673568 Eccrine angiomatous hamartoma 673574 Reactive angioendotheliomatosis 673580 Classic pilocytic astrocytoma 673585 Pilocytic astrocytoma with histological features of anaplasia 674653 Actinomyopathy-associated syndromic thrombocytopenia 674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency 674924 Isolated retinal racemose hemangioma 674930 Perifoveal exudative vascular anomalous complex 674935 Torpedo Maculopathy 674943 Isolated angioid streaks 674947 Diffuse unilateral subacute neuroretinitis 674953 Multiple evanescent white dot syndrome 674958 Stellate multiform amelanotic choroidopathy 674965 Choroidal osteoma 674968 Bilateral diffuse uveal melanocytic proliferation disease 675216 Spinocerebellar ataxia type 27B 675359 Anastomosing haemangioma 675362 Hobnail hemangioma 675369 Microvenular haemangioma 675380 Isolated segmental infantile hemangioma 675396 Epithelioid hemangioma 675404 May-Thurner syndrome 675597 Acquired elastotic haemangioma 675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome 675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency 675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome 675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 675814 Adenomatoid tumour of the pleura 675822 Well-differentiated papillary mesothelial tumour of the pleura 675833 Localized pleural mesothelioma 675837 Diffused pleural mesothelioma 675841 Pleural mesothelioma in situ 675976 Adenomatoid tumour of the peritoneum 676033 Well-differentiated papillary mesothelial tumour of the peritoneum 676036 Peritoneal mesothelioma in situ 676039 Combined immunodeficiency due to FOXN1 haploinsufficiency 676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
The Value Set is used to describe the problems and medication reasons.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency
Fatal infantile lactic acidosis with methylmalonic aciduria
Succinic semialdehyde dehydrogenase deficiency
Methylmalonic acidemia with homocystinuria
Vitamin B12-unresponsive methylmalonic acidemia
Vitamin B12-responsive methylmalonic acidemia
Medium chain acyl-CoA dehydrogenase deficiency
Adenosine monophosphate deaminase deficiency
Congenital bilateral absence of vas deferens
Glycogen storage disease due to aldolase A deficiency
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Congenital alpha2-antiplasmin deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Blepharophimosis-ptosis-epicanthus inversus syndrome
Hereditary butyrylcholinesterase deficiency
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Hereditary breast and/or ovarian cancer syndrome
Carbamoyl-phosphate synthetase 1 deficiency
Familial isolated dilated cardiomyopathy
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
Congenital cataract-anterior segment dysgenesis syndrome
Hereditary hyperferritinemia-cataract syndrome
Progressive familial intrahepatic cholestasis
Metaphyseal chondrodysplasia, Schmid type
X-linked hypohidrotic ectodermal dysplasia
Eosinophilic granulomatosis with polyangiitis
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Erosive pustular dermatosis of the scalp
Autosomal recessive hypohidrotic ectodermal dysplasia
Early-onset generalized limb-onset dystonia
Epidermolysis bullosa simplex with muscular dystrophy
Laminin subunit alpha 2-related congenital muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1A
Calpain-3-related limb-girdle muscular dystrophy R1
Dysferlin-related limb-girdle muscular dystrophy R2
Congenital muscular dystrophy, Fukuyama type
Severe combined immunodeficiency due to DCLRE1C deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
Congenital herpes simplex virus infection
Mitochondrial neurogastrointestinal encephalomyopathy
Inherited epidermodysplasia verruciformis
Autosomal dominant epidermolytic ichthyosis
Progressive symmetric erythrokeratodermia
Hyperimmunoglobulinemia D with periodic fever
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Glycogen storage disease due to glucose-6-phosphatase deficiency
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease due to muscle phosphofructokinase deficiency
Anti-glomerular basement membrane disease
Guanidinoacetate methyltransferase deficiency
46,XX testicular difference of sex development
Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Neonatal severe primary hyperparathyroidism
Idiopathic/heritable pulmonary arterial hypertension
Familial hyperthyroidism due to mutations in TSH receptor
Normosmic congenital hypogonadotropic hypogonadism
X-linked lissencephaly with abnormal genitalia
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital high-molecular-weight kininogen deficiency
Autosomal dominant severe congenital neutropenia
Transgrediens et progrediens palmoplantar keratoderma
Noonan syndrome with multiple lentigines
Graham Little-Piccardi-Lassueur syndrome
Hereditary leiomyomatosis and renal cell cancer
Familial hemophagocytic lymphohistiocytosis
Familial or sporadic hemiplegic migraine
Immunodeficiency by defective expression of MHC class II
Vocal cord and pharyngeal distal myopathy
Homocystinuria without methylmalonic aciduria
Short stature due to growth hormone qualitative anomaly
Non-acquired isolated growth hormone deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
Hereditary neuropathy with liability to pressure palsies
Hereditary sensory and autonomic neuropathy type 4
Genetic steroid-resistant nephrotic syndrome
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Congenital central hypoventilation syndrome
Mitochondrial DNA-related progressive external ophthalmoplegia
Autosomal recessive malignant osteopetrosis
Hemolytic anemia due to glucophosphate isomerase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Continuous spikes and waves during sleep
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney disease
Porokeratosis plantaris palmaris et disseminata
Severe hereditary thrombophilia due to congenital protein S deficiency
Severe hereditary thrombophilia due to congenital protein C deficiency
Mitochondrial trifunctional protein deficiency
Autoimmune pulmonary alveolar proteinosis
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Purine nucleoside phosphorylase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
X-linked non-syndromic intellectual disability
Generalized glucocorticoid resistance syndrome
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Encephalopathy due to sulfite oxidase deficiency
Congenital nephrotic syndrome, Finnish type
X-linked alpha-thalassemia-intellectual disability syndrome
X-linked thrombocytopenia with normal platelets
Fetal and neonatal alloimmune thrombocytopenia
Congenitally uncorrected transposition of the great arteries
Familial progressive cardiac conduction defect
Combined immunodeficiency due to ZAP70 deficiency
Hyperammonemia due to N-acetylglutamate synthase deficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency
Acromesomelic dysplasia, Hunter-Thompson type
Hereditary sensory and autonomic neuropathy type 2
Hereditary continuous muscle fiber activity
Isolated absence/hypoplasia of fingers excluding thumb, unilateral
Adenine phosphoribosyltransferase deficiency
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Agnathia-holoprosencephaly-situs inversus syndrome
Ocular albinism with late-onset sensorineural deafness
Scalp defects-postaxial polydactyly syndrome
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
Early-onset autosomal dominant Alzheimer disease
Congenital generalized hypertrichosis, Ambras type
Beta-mercaptolactate cysteine disulfiduria
Lethal hemolytic anemia-genital anomalies syndrome
Aniridia-renal agenesis-psychomotor retardation syndrome
Aniridia-cerebellar ataxia-intellectual disability syndrome
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Aniridia-intellectual disability syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome
Isolated lissencephaly type 1 without known genetic defects
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Aphalangy-syndactyly-microcephaly syndrome
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Lung agenesis-heart defect-thumb anomalies syndrome
Radial deficiency-tibial hypoplasia syndrome
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome
Arrhinia-choanal atresia-microphthalmia syndrome
Neurogenic arthrogryposis multiplex congenita
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Infantile-onset X-linked spinal muscular atrophy
Arthrogryposis multiplex congenita-whistling face syndrome
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Progressive pseudorheumatoid arthropathy of childhood
Congenital unilateral hypoplasia of depressor anguli oris
Autosomal recessive cerebelloparenchymal disorder type 3
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-ectodermal dysplasia syndrome
Early-onset cerebellar ataxia with retained tendon reflexes
Ataxia-tapetoretinal degeneration syndrome
Benign paroxysmal tonic upgaze of childhood with ataxia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-photosensitivity-short stature syndrome
Spinocerebellar ataxia-dysmorphism syndrome
Lethal ataxia with deafness and optic atrophy
Ataxia-deafness-intellectual disability syndrome
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
TMEM70-related mitochondrial encephalo-cardio-myopathy
Pulmonary atresia with ventricular septal defect
Pulmonary atresia-intact ventricular septum syndrome
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant congenital benign spinal muscular atrophy
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Congenital intrauterine infection-like syndrome
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Blepharonasofacial malformation syndrome
Blepharoptosis-myopia-ectopia lentis syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-arterial hypertension syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachydactyly-preaxial hallux varus syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
Autosomal dominant popliteal pterygium syndrome
Distal limb deficiencies-micrognathia syndrome
Infantile choroidocerebral calcification syndrome
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 1
Hyperkeratosis-hyperpigmentation syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome
Cardiomyopathy-cataract-hip spine disease syndrome
Mitochondrial DNA-related cardiomyopathy and hearing loss
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Congenital heart defect-round face-developmental delay syndrome
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Cataract-aberrant oral frenula-growth delay syndrome
Cataract-hypertrichosis-intellectual disability syndrome
Cataract-nephropathy-encephalopathy syndrome
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cortical blindness-intellectual disability-polydactyly syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Hydrocephaly-cerebellar agenesis syndrome
Familial calcium pyrophosphate deposition
Chondrodysplasia-difference of sex development syndrome
X-linked skeletal dysplasia-intellectual disability syndrome
Celiac disease-epilepsy-cerebral calcification syndrome
Coloboma of macula-brachydactyly type B syndrome
Uveal coloboma-cleft lip and palate-intellectual disability
Atrial septal defect-atrioventricular conduction defects syndrome
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Arthrogryposis-hyperkeratosis syndrome, lethal form
Lethal congenital contracture syndrome type 1
Corneal dystrophy-perceptive deafness syndrome
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Corpus callosum agenesis-neuronopathy syndrome
X-linked complicated corpus callosum dysgenesis
Thin ribs-tubular bones-dysmorphism syndrome
Craniodigital-intellectual disability syndrome
Non-syndromic bilambdoid and sagittal craniosynostosis
Craniofrontonasal dysplasia-Poland anomaly syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cutis marmorata telangiectatica congenita
Fatal infantile cytochrome C oxidase deficiency
Dandy-Walker malformation-postaxial polydactyly syndrome
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Hypotrichosis with juvenile macular degeneration
Retinal degeneration-nanophthalmos-glaucoma syndrome
Pterin-4 alpha-carbinolamine dehydratase deficiency
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Absence of fingerprints-congenital milia syndrome
Sporadic fetal brain disruption sequence
Dihydropyrimidine dehydrogenase deficiency
Familial idiopathic dilatation of the right atrium
Arterial dissection-lentiginosis syndrome
XY type gonadal dysgenesis-associated anomalies syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Dysmorphism-cleft palate-loose skin syndrome
Autosomal dominant spondylocostal dysostosis
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Hidrotic ectodermal dysplasia, Halal type
Autosomal dominant hypohidrotic ectodermal dysplasia
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Ectodermal dysplasia, trichoodontoonychial type
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Metaphyseal chondrodysplasia, Rosenberg type
Spondyloperipheral dysplasia-short ulna syndrome
Skeletal dysplasia-epilepsy-short stature syndrome
Thoracic dysplasia-hydrocephalus syndrome
Dyssegmental dysplasia, Silverman-Handmaker type
Hereditary bullous dystrophy, macular type
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Oculogastrointestinal muscular dystrophy
TRIM32-related limb-girdle muscular dystrophy R8
Ebstein malformation of the tricuspid valve
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Ectodermal dysplasia-sensorineural deafness syndrome
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Aminopterin/methotrexate embryofetopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Early infantile epileptic encephalopathy
Early-onset progressive encephalopathy with migrant continuous myoclonus
Progressive epilepsy-intellectual disability syndrome, Finnish type
Epilepsy-microcephaly-skeletal dysplasia syndrome
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Exostoses-anetodermia-brachydactyly type E syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Flat face-microstomia-ear anomaly syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Autosomal recessive faciodigitogenital syndrome
Lipodystrophy due to peptidic growth factors deficiency
Bilateral striopallidodentate calcinosis
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Cleft palate-stapes fixation-oligodontia syndrome
Cleft palate-large ears-small head syndrome
Cleft palate-short stature-vertebral anomalies syndrome
Congenital fiber-type disproportion myopathy
Gingival fibromatosis-facial dysmorphism syndrome
Gingival fibromatosis-hypertrichosis syndrome
Gingival fibromatosis-progressive deafness syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Congenital systemic arteriovenous fistula
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Progressive non-infectious anterior vertebral fusion
Splenogonadal fusion-limb defects-micrognathia syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Gamma-aminobutyric acid transaminase deficiency
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Prominent glabella-microcephaly-hypogenitalism syndrome
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Glycogen storage disease due to hepatic glycogen synthase deficiency
Multinodular goiter-cystic kidney-polydactyly syndrome
Dysmorphism-pectus carinatum-joint laxity syndrome
Hallux varus-preaxial polysyndactyly syndrome
Multifocal infantile hemangioma with extracutenous involvement
46,XX ovotesticular difference of sex development
Diaphragmatic defect-limb deficiency-skull defect syndrome
Lissencephaly type 1 due to doublecortin gene mutation
Hirschsprung disease-type D brachydactyly syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-deafness-polydactyly syndrome
Histidinuria-renal tubular defect syndrome
Holoprosencephaly-craniosynostosis syndrome
Holoprosencephaly-caudal dysgenesis syndrome
Holoprosencephaly-postaxial polydactyly syndrome
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Hydrocephaly-tall stature-joint laxity syndrome
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrocephalus-obesity-hypogonadism syndrome
Hydrocephaly-low insertion umbilicus syndrome
Hydrocephalus-blue sclerae-nephropathy syndrome
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Palmoplantar keratoderma-esophageal carcinoma syndrome
Focal palmoplantar and gingival keratoderma
Palmoplantar keratoderma-spastic paralysis syndrome
Palmoplantar keratoderma-deafness syndrome
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Ankylosing vertebral hyperostosis with tylosis
Hypertelorism-hypospadias-polysyndactyly syndrome
Hypertelorism-microtia-facial clefting syndrome
Multiple pterygium-malignant hyperthermia syndrome
Maternal hyperthermia-induced birth defects
Cervical hypertrichosis-peripheral neuropathy syndrome
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Ulna hypoplasia-intellectual disability syndrome
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Foveal hypoplasia-presenile cataract syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypotrichosis-intellectual disability, Lopes type
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Ichthyosis-oral and digital anomalies syndrome
Ichthyosis follicularis-alopecia-photophobia syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Dysmorphism-short stature-deafness-difference of sex development syndrome
Familial articular hypermobility syndrome
Absence deformity of leg-cataract syndrome
Autosomal recessive spondylocostal dysostosis
Transient familial neonatal hyperbilirubinemia
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
Osteopenia-intellectual disability-sparse hair syndrome
Epidermolysis bullosa simplex with anodontia/hypodontia
Kallmann syndrome-heart disease syndrome
Diffuse palmoplantar keratoderma, Bothnian type
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Keratosis follicularis spinulosa decalvans
Familial partial lipodystrophy, Dunnigan type
Muscular pseudohypertrophy-hypothyroidism syndrome
Glycogen storage disease due to lactate dehydrogenase deficiency
Larsen-like osseous dysplasia-short stature syndrome
Laryngeal abductor paralysis-intellectual disability syndrome
Early-onset parkinsonism-intellectual disability syndrome
Leukoencephalopathy-palmoplantar keratoderma syndrome
Congenitally short costocoracoid ligament
Peripheral motor neuropathy-dysautonomia syndrome
Thickened earlobes-conductive deafness syndrome
Hypergonadotropic hypogonadism-cataract syndrome
Dislocation of the hip-dysmorphism syndrome
Macrocephaly-short stature-paraplegia syndrome
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Macrosomia-microphthalmia-cleft palate syndrome
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Isolated split hand-split foot malformation
Congenital pulmonary airway malformation
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Megalocornea-intellectual disability syndrome
Lower limb malformation-hypospadias syndrome
Upper limb defect-eye and ear abnormalities syndrome
Müllerian duct anomalies-limb anomalies syndrome
Upper limb mesomelic dysplasia, type Fryns
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Multiple benign circumferential skin creases on limbs
Corpus callosum agenesis-abnormal genitalia syndrome
Microbrachycephaly-ptosis-cleft lip syndrome
Autosomal recessive primary microcephaly
Microcephaly-albinism-digital anomalies syndrome
Microcephaly-cardiac defect-lung malsegmentation syndrome
Autosomal recessive chorioretinopathy-microcephaly syndrome
Microcephaly-seizures-intellectual disability-heart disease syndrome
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Microcephaly-cervical spine fusion anomalies syndrome
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-microcornea syndrome, Seemanova type
Microcephaly-deafness-intellectual disability syndrome
Microcornea-glaucoma-absent frontal sinuses syndrome
Microgastria-limb reduction defect syndrome
Microphthalmia-microtia-fetal akinesia syndrome
Oculoauriculovertebral spectrum with radial defects
Microspherophakia-metaphyseal dysplasia syndrome
Microphthalmia with linear skin defects syndrome
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Pyramidal molars-abnormal upper lip syndrome
Chronic Epstein-Barr virus infection syndrome
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Spastic ataxia-corneal dystrophy syndrome
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Myalgia-eosinophilia syndrome associated with tryptophan
Myoclonus-cerebellar ataxia-deafness syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial myopathy and sideroblastic anemia
Microcephalic primordial dwarfism, Montreal type
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism type II
Fibular aplasia-complex brachydactyly syndrome
Microcephalic primordial dwarfism, Toriello type
Adult familial nephronophthisis-spastic quadriparesia syndrome
Nephropathy-deafness-hyperparathyroidism syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome
Cyprus facial-neuromusculoskeletal syndrome
Hypomyelination neuropathy-arthrogryposis syndrome
Neutropenia-monocytopenia-deafness syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Noonan syndrome-like disorder with loose anagen hair
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculocerebral hypopigmentation syndrome, Cross type
Oculocerebral hypopigmentation syndrome, Preus type
Odonto-onycho dysplasia-alopecia syndrome
Odontomatosis-aortae esophagus stenosis syndrome
Blepharophimosis-intellectual disability syndrome, Ohdo type
Olivopontocerebellar atrophy-deafness syndrome
Lethal omphalocele-cleft palate syndrome
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Horizontal gaze palsy with progressive scoliosis
Imperforate oropharynx-costovertebral anomalies syndrome
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Autosomal recessive distal osteolysis syndrome
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Osteopathia striata-cranial sclerosis syndrome
Osteopetrosis with renal tubular acidosis
Osteoporosis-oculocutaneous hypopigmentation syndrome
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Fowler urethral sphincter dysfunction syndrome
Pachygyria-intellectual disability-epilepsy syndrome
X-linked sideroblastic anemia and spinocerebellar ataxia
Familial recurrent peripheral facial palsy
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic paraplegia-facial-cutaneous lesions syndrome
Spastic paraplegia-nephritis-deafness syndrome
Spastic paraplegia-neuropathy-poikiloderma syndrome
Autosomal recessive spastic paraplegia type 11
Paraplegia-intellectual disability-hyperkeratosis syndrome
Spastic paraplegia-precocious puberty syndrome
Rhizomelic dysplasia, Patterson-Lowry type
Short tarsus-absence of lower eyelashes syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Renal caliceal diverticuli-deafness syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Alopecia-intellectual disability syndrome
Short stature-wormian bones-dextrocardia syndrome
Short stature-webbed neck-heart disease syndrome
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Short stature-valvular heart disease-characteristic facies syndrome
Phosphoenolpyruvate carboxykinase deficiency
Cutaneous photosensitivity-lethal colitis syndrome
Piebald trait-neurologic defects syndrome
Pierre Robin syndrome-faciodigital anomaly syndrome
Pili torti-developmental delay-neurological abnormalities syndrome
Pilodental dysplasia-refractive errors syndrome
X-linked intellectual disability-plagiocephaly syndrome
Brachyolmia-amelogenesis imperfecta syndrome
Idiopathic chronic eosinophilic pneumonia
Postaxial polydactyly-dental and vertebral anomalies syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome
Digital extensor muscle aplasia-polyneuropathy
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Chronic inflammatory demyelinating polyneuropathy
Polysyndactyly-cardiac malformation syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome
Absent thumb-short stature-immunodeficiency syndrome
Adducted thumbs-arthrogryposis syndrome, Christian type
Musculocontractural Ehlers-Danlos syndrome
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Progeria-short stature-pigmented nevi syndrome
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
46,XX difference of sex development-anorectal anomalies syndrome
46,XX difference of sex development-skeletal anomalies syndrome
Pseudoleprechaunism syndrome, Patterson type
Difference of sex development-intellectual disability syndrome
Pterygium colli-intellectual disability-digital anomalies syndrome
Autosomal recessive multiple pterygium syndrome
Short stature-craniofacial anomalies-genital hypoplasia syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Ptosis-strabismus-ectopic pupils syndrome
Familial peripheral male-limited precocious puberty
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Absent radius-anogenital anomalies syndrome
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
External auditory canal atresia-vertical talus-hypertelorism syndrome
Radial ray hypoplasia-choanal atresia syndrome
Growth delay-hydrocephaly-lung hypoplasia syndrome
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Intellectual disability-balding-patella luxation-acromicria syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Blepharophimosis-intellectual disability syndrome, SBBYS type
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability, Snyder type
Intellectual disability-myopathy-short stature-endocrine defect syndrome
Intellectual disability-short stature-hypertelorism syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Severe X-linked intellectual disability, Gustavson type
Intellectual disability, Buenos-Aires type
Intellectual disability-polydactyly-uncombable hair syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Autosomal dominant vitreoretinochoroidopathy
Alpha-N-acetylgalactosaminidase deficiency
Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Omphalocele syndrome, Shprintzen-Goldberg type
X-linked spasticity-intellectual disability-epilepsy syndrome
Spinocerebellar degeneration-corneal dystrophy syndrome
Steatocystoma multiplex-natal teeth syndrome
Holoprosencephaly-radial heart renal anomalies syndrome
Subaortic stenosis-short stature syndrome
Steroid dehydrogenase deficiency-dental anomalies syndrome
Arthrogryposis-ectodermal dysplasia syndrome
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Isolated succinate-CoQ reductase deficiency
Deaf blind hypopigmentation syndrome, Yemenite type
Conductive deafness-malformed external ear syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome
Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-enamel hypoplasia-nail defects syndrome
Phosphoribosylpyrophosphate synthetase superactivity
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Deafness-ear malformation-facial palsy syndrome
Cochleosaccular degeneration-cataract syndrome
Progressive deafness with stapes fixation
Conductive deafness-ptosis-skeletal anomalies syndrome
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Symphalangism with multiple anomalies of hands and feet
Cleft lip/palate-ectodermal dysplasia syndrome
Syndactyly-polydactyly-ear lobe syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome
Catecholaminergic polymorphic ventricular tachycardia
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Tetraamelia-multiple malformations syndrome
Fallot complex-intellectual disability-growth delay syndrome
Inverted duplicated chromosome 15 syndrome
Congenital amegakaryocytic thrombocytopenia
Absent tibia-polydactyly-arachnoid cyst syndrome
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Tracheobronchopathia osteochondroplastica
Tremor-nystagmus-duodenal ulcer syndrome
Trichodermodysplasia-dental alterations syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trigonocephaly-bifid nose-acral anomalies syndrome
Trigonocephaly-short stature-developmental delay syndrome
Isolated anterior cervical hypertrichosis
Umbilical cord ulceration-intestinal atresia syndrome
Double uterus-hemivagina-renal agenesis syndrome
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Intellectual disability-developmental delay-contractures syndrome
X-linked myopathy with excessive autophagy
Multiple acyl-CoA dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Hereditary pheochromocytoma-paraganglioma
Primary hypomagnesemia with secondary hypocalcemia
Hereditary arginine vasopressin deficiency
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Infantile convulsions and choreoathetosis
Tumor necrosis factor receptor 1 associated periodic syndrome
Metaphyseal chondrodysplasia, Jansen type
Jessner lymphocytic infiltration of the skin
Gamma-glutamyl transpeptidase deficiency
Autosomal dominant tubulointerstitial kidney disease
Telethonin-related limb-girdle muscular dystrophy R7
FKRP-related limb-girdle muscular dystrophy R9
DNAJB6-related limb-girdle muscular dystrophy D1
Congenital muscular dystrophy with integrin alpha-7 deficiency
Autosomal dominant primary hypomagnesemia with hypocalciuria
Immunodeficiency by defective expression of MHC class I
Severe disseminated cytomegalovirus infection in immunocompetent patients
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Non-syndromic bicoronal craniosynostosis
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Congenital sucrase-isomaltase deficiency
X-linked dominant chondrodysplasia punctata
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
L-Arginine:glycine amidinotransferase deficiency
Aromatic L-amino acid decarboxylase deficiency
Combined deficiency of factor V and factor VIII
COL4A1/2-related familial vascular leukoencephalopathy
Hereditary sensory and autonomic neuropathy type 1
Generalized epilepsy with febrile seizures-plus
Hypocomplementemic urticarial vasculitis
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Acute tricyclic antidepressant poisoning
Acute poisoning by drugs with membrane-stabilizing effect
Congenital fibrosis of extraocular muscles
Incessant infant ventricular tachycardia
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary papillary renal cell carcinoma
Nodular regenerative hyperplasia of the liver
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Embryonal carcinoma of the central nervous system
Thiamine-responsive megaloblastic anemia syndrome
Lipodystrophy-intellectual disability-deafness syndrome
Zellweger-like syndrome without peroxisomal anomalies
Duane anomaly-myopathy-scoliosis syndrome
Torsade-de-pointes syndrome with short coupling interval
Generalized arterial calcification of infancy
Anterior cutaneous nerve entrapment syndrome
Craniosynostosis-intracranial calcifications syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Ulnar/fibula ray defect-brachydactyly syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
X-linked creatine transporter deficiency
Isolated follicle stimulating hormone deficiency
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Arthrogryposis-anterior horn cell disease syndrome
Primary membranoproliferative glomerulonephritis
TNP03-related limb-girdle muscular dystrophy D2
HNRNPDL-related limb-girdle muscular dystrophy D3
Medial condensing osteitis of the clavicle
Sorsby pseudoinflammatory fundus dystrophy
Neonatal ichthyosis-sclerosing cholangitis syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Distal myopathy with posterior leg and anterior hand involvement
Angel-shaped phalango-epiphyseal dysplasia
Acrofacial dysostosis, Kennedy-Teebi type
Pruritic urticarial papules and plaques of pregnancy
Hereditary motor and sensory neuropathy type 5
Hereditary sensory and autonomic neuropathy type 5
Spinocerebellar ataxia with axonal neuropathy type 2
Biotin-thiamine-responsive basal ganglia disease
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Benign recurrent intrahepatic cholestasis
Arthrogryposis-severe scoliosis syndrome
Autosomal dominant multiple pterygium syndrome
Multiple self-healing squamous epithelioma
Short fifth metacarpals-insulin resistance syndrome
Obesity due to congenital leptin deficiency
Congenital pseudoarthrosis of the clavicle
Sensorineural hearing loss-early graying-essential tremor syndrome
Autosomal dominant optic atrophy and cataract
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked intellectual disability with isolated growth hormone deficiency
Idiopathic steroid-sensitive nephrotic syndrome
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Odonto-tricho-ungual-digito-palmar syndrome
Ectodermal dysplasia with natal teeth, Turnpenny type
Naegeli-Franceschetti-Jadassohn syndrome
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Low phospholipid-associated cholelithiasis
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Bilateral acute depigmentation of the iris
Athabaskan brainstem dysgenesis syndrome
Circumscribed palmoplantar hypokeratosis
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Post-transplant lymphoproliferative disease
Adult acute respiratory distress syndrome
Infant acute respiratory distress syndrome
Chronic thromboembolic pulmonary hypertension
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Classic glucose transporter type 1 deficiency syndrome
Congenital brain dysgenesis due to glutamine synthetase deficiency
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Familial platelet disorder with associated myeloid malignancy
Benign paroxysmal torticollis of infancy
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to melanocortin 4 receptor deficiency
Global developmental delay-osteopenia-ectodermal defect syndrome
Kidney tubulopathy-dilated cardiomyopathy syndrome
Ossification anomalies-psychomotor developmental delay syndrome
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Bleeding diathesis due to a collagen receptor defect
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay due to insulin-like growth factor I resistance
Familial isolated restrictive cardiomyopathy
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Familial isolated retinal arteriolar tortuosity
Progressive bifocal chorioretinal atrophy
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Acquired idiopathic sideroblastic anemia
Infantile neurovisceral acid sphingomyelinase deficiency
Chronic visceral acid sphingomyelinase deficiency
Anophthalmia/microphthalmia-esophageal atresia syndrome
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
IgG4-related dacryoadenitis and sialadenitis
PPARG-related familial partial lipodystrophy
Familial partial lipodystrophy, Köbberling type
AKT2-related familial partial lipodystrophy
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Congenital bile acid synthesis defect type 4
Interstitial granulomatous dermatitis with arthritis
Developmental malformations-deafness-dystonia syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome
Respiratory bronchiolitis-interstitial lung disease syndrome
Trichodysplasia-amelogenesis imperfecta syndrome
Generalized epilepsy-paroxysmal dyskinesia syndrome
Familial reactive perforating collagenosis
Linear and whorled nevoid hypermelanosis
Disseminated superficial actinic porokeratosis
Seizures-intellectual disability due to hydroxylysinuria syndrome
2-methylbutyryl-CoA dehydrogenase deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase phosphatase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Methylmalonic acidemia with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
Methylmalonic acidemia with homocystinuria type cblF
Congenital glucokinase-related hyperinsulinism
Congenital bile acid synthesis defect type 1
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 1
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Brachytelephalangic chondrodysplasia punctata
Chondrodysplasia punctata, tibial-metacarpal type
Chondrodysplasia punctata, Toriello type
3-phosphoserine phosphatase deficiency, infantile/juvenile form
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Keratoderma hereditarium mutilans with ichthyosis
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Epidermolysis bullosa simplex with mottled pigmentation
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
Intermediate generalized junctional epidermolysis bullosa
Junctional epidermolysis bullosa with pyloric atresia
Severe generalized junctional epidermolysis bullosa
Junctional epidermolysis bullosa inversa
Late-onset junctional epidermolysis bullosa
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Recessive dystrophic epidermolysis bullosa inversa
Localized dystrophic epidermolysis bullosa, pretibial form
Self-improving dystrophic epidermolysis bullosa
X-linked lethal multiple pterygium syndrome
Inflammatory linear verrucous epidermal nevus
X-linked congenital generalized hypertrichosis
Autosomal dominant deafness-onychodystrophy syndrome
Punctate palmoplantar keratoderma type 1
Punctate palmoplantar keratoderma type 2
Cholesterol-ester transfer protein deficiency
Hypotonia-failure to thrive-microcephaly syndrome
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
T-cell immunodeficiency with thymic aplasia
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Microcytic anemia with liver iron overload
Idiopathic malabsorption due to bile acid synthesis defects
Desmin-related myopathy with Mallory body-like inclusions
Familial encephalopathy with neuroserpin inclusion bodies
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Cystic leukoencephalopathy without megalencephaly
Neurogenic scapuloperoneal syndrome, Kaeser type
Facial onset sensory and motor neuronopathy
Hypomyelination-congenital cataract syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Familial digital arthropathy-brachydactyly
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Infantile osteopetrosis with neuroaxonal dysplasia
Diaphyseal medullary stenosis-bone malignancy syndrome
Craniometadiaphyseal dysplasia, wormian bone type
Endosteal sclerosis-cerebellar hypoplasia syndrome
Metaphyseal dysplasia, Braun-Tinschert type
Calvarial doughnut lesions-bone fragility syndrome
Craniosynostosis-anal anomalies-porokeratosis syndrome
X-linked intellectual disability, Abidi type
Syndromic X-linked intellectual disability 7
Microphthalmia-ankyloblepharon-intellectual disability syndrome
X-linked intellectual disability, Armfield type
X-linked intellectual disability, Cantagrel type
KDM5C-related syndromic X-linked intellectual disability
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability, Miles-Carpenter type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Shashi type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Stocco Dos Santos type
X-linked intellectual disability, Wilson type
X-linked intellectual disability, Cabezas type
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Deafness-intellectual disability syndrome, Martin-Probst type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Seemanova type
X-linked intellectual disability, Shrimpton type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
X-linked intellectual disability-ataxia-apraxia syndrome
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Oligoarticular juvenile idiopathic arthritis
Systemic-onset juvenile idiopathic arthritis
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Psoriasis-related juvenile idiopathic arthritis
Enthesitis-related juvenile idiopathic arthritis
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Hereditary amyloidosis with primary renal involvement
POMT1-related limb-girdle muscular dystrophy R11
Helicoid peripapillary chorioretinal degeneration
Benign adult familial myoclonic epilepsy
Hemolytic anemia due to adenylate kinase deficiency
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Familial avascular necrosis of femoral head
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Chronic myeloproliferative disease, unclassifiable
Myelodysplastic neoplasm with increased blasts
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Acute myeloid leukaemia with myelodysplasia-related features
Non-amyloid monoclonal immunoglobulin deposition disease
Blastic plasmacytoid dendritic cell neoplasm
T-cell large granular lymphocyte leukemia
Subcutaneous panniculitis-like T-cell lymphoma
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Nodular lymphocyte predominant Hodgkin lymphoma
Dendritic cell sarcoma not otherwise specified
Methotrexate-associated lymphoproliferative disorders
Hypothalamic hamartomas with gelastic seizures
Idiopathic hemiconvulsion-hemiplegia syndrome
Myoclonic epilepsy in non-progressive encephalopathies
Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
Lymphedema-atrial septal defects-facial changes syndrome
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Keratosis palmaris et plantaris-clinodactyly syndrome
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Autosomal recessive non-syndromic intellectual disability
S-adenosylhomocysteine hydrolase deficiency
Familial acute necrotizing encephalopathy
Posterior column ataxia-retinitis pigmentosa syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Autosomal dominant progressive nephropathy with hypertension
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
MUC1-related autosomal dominant tubulointerstitial kidney disease
UMOD-related autosomal dominant tubulointerstitial kidney disease
Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Dystrophic epidermolysis bullosa pruriginosa
Lissencephaly syndrome, Norman-Roberts type
Autosomal dominant hypophosphatemic rickets
X-linked cone dysfunction syndrome with myopia
Undifferentiated connective tissue syndrome
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Deafness with labyrinthine aplasia, microtia, and microdontia
Hemolytic anemia due to glutathione reductase deficiency
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Drug-induced autoimmune hemolytic anemia
Shiga toxin-associated hemolytic uremic syndrome
Recurrent hepatitis C virus induced liver disease in liver transplant recipients
Complications after hematopoietic stem cell transplantation
Moderate and severe traumatic brain injury
Acquired aneurysmal subarachnoid hemorrhage
Pneumonia caused by Pseudomonas aeruginosa infection
Hepatitis B reinfection following liver transplantation
Partial deep dermal and full thickness burns
Invasive infections due to vancomycin-resistant enterococci
Scarring in glaucoma filtration surgical procedures
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Hereditary motor and sensory neuropathy, Okinawa type
Severe early-onset axonal neuropathy due to MFN2 deficiency
Hereditary motor and sensory neuropathy with acrodystrophy
Hereditary motor and sensory neuropathy type 6
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Panniculitis-induced localized lipodystrophy
Hypertrophic or verrucous lupus erythematosus
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Telangiectasia macularis eruptiva perstans
Localized lichen myxedematosus with mixed features of different subtypes
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
Scleromyxedema without monoclonal gammopathy
Rare X-linked non-syndromic sensorineural deafness type DFN
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Rare mitochondrial non-syndromic sensorineural deafness
Hypothyroidism due to TSH receptor mutations
Isolated thyroid-stimulating hormone deficiency
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
46,XY difference of sex development due to isolated 17,20-lyase deficiency
Adenovirus infection in immunocompromised patients
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Acquired monoclonal Ig light chain-associated Fanconi syndrome
Unspecified juvenile idiopathic arthritis
Pituitary deficiency due to Rathke cleft cysts
Pituitary deficiency due to empty sella turcica syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated ankyloblepharon filiforme adnatum
Macular coloboma-cleft palate-hallux valgus syndrome
Persistent hyperplastic primary vitreous
Familial congenital palsy of trochlear nerve
Tubulointerstitial nephritis and uveitis syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Hypocalcemic vitamin D-resistant rickets
Fragile X-associated tremor/ataxia syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Cloverleaf skull-multiple congenital anomalies syndrome
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome, Verma-Naumoff type
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepiphyseal dysplasia, Kimberley type
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Sedaghatian type
Autosomal recessive Kenny-Caffey syndrome
Autosomal dominant Kenny-Caffey syndrome
Polydactyly of a biphalangeal thumb and/or hallux
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
X-linked spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Irapa type
Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Familial hypocalciuric hypercalcemia type 1
Light and heavy chain deposition disease
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Congenital thrombotic thrombocytopenic purpura
Immune-mediated thrombotic thrombocytopenic purpura
Nephrogenic syndrome of inappropriate antidiuresis
Autosomal recessive proximal renal tubular acidosis
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Midline interhemispheric variant of holoprosencephaly
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability, Hedera type
Blepharospasm-oromandibular dystonia syndrome
Open spinal dysraphism with a myelomeningocele
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Spinocerebellar ataxia with axonal neuropathy type 1
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Straddling or overriding tricuspid valve
Combined pituitary hormone deficiencies, genetic forms
Acquired arginine vasopressin deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Beckwith-Wiedemann syndrome due to 11p15 microduplication
8p inverted duplication/deletion syndrome
Kleefstra syndrome due to 9q34 microdeletion
Maternal uniparental disomy of chromosome 2
Maternal uniparental disomy of chromosome 4
Maternal uniparental disomy of chromosome 6
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Maternal uniparental disomy of chromosome 9
Temple syndrome due to maternal uniparental disomy of chromosome 14
Maternal uniparental disomy of chromosome 16
Maternal uniparental disomy of chromosome 20
Maternal uniparental disomy of chromosome 21
Maternal uniparental disomy of chromosome 22
Paternal uniparental disomy of chromosome 5
Paternal uniparental disomy of chromosome 6
Paternal uniparental disomy of chromosome 7
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Paternal uniparental disomy of chromosome 20
Paternal uniparental disomy of chromosome 21
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Glycogen storage disease due to phosphoglycerate mutase deficiency
Familial papillary thyroid carcinoma with renal papillary neoplasia
Unilateral multicystic dysplastic kidney
Renal tubular dysgenesis due to twin-twin transfusion
Renal tubular dysgenesis of genetic origin
Pauci-immune glomerulonephritis with ANCA
Pauci-immune glomerulonephritis without ANCA
Maternal uniparental disomy of chromosome 13
Hereditary combined deficiency of vitamin K-dependent clotting factors
Autosomal dominant optic atrophy, classic form
Autosomal recessive isolated optic atrophy
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Autosomal dominant nocturnal frontal lobe epilepsy
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Prader-Willi syndrome due to paternal 15q11q13 deletion
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Autosomal dominant dopa-responsive dystonia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Benign childhood occipital epilepsy, Panayiotopoulos type
Benign childhood occipital epilepsy, Gastaut type
Familial focal epilepsy with variable foci
Unclassified myelodysplastic/myeloproliferative disease
Myelodysplastic neoplasm with low blasts
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia with minimal differentiation
Acute myeloblastic leukemia without maturation
Acute myeloblastic leukemia with maturation
Primary mediastinal large B-cell lymphoma
Classic Hodgkin lymphoma, nodular sclerosis type
Classic Hodgkin lymphoma, mixed cellularity type
Classic Hodgkin lymphoma, lymphocyte-rich type
Classic Hodgkin lymphoma, lymphocyte-depleted type
Systemic mastocytosis with associated hematologic neoplasm
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive Emery-Dreifuss muscular dystrophy
X-linked Emery-Dreifuss muscular dystrophy
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type III
Transient erythroblastopenia of childhood
Congenital dyserythropoietic anemia type II
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Congenital myopathy with excess of thin filaments
Congenital multicore myopathy with external ophthalmoplegia
Neutral lipid storage disease with ichthyosis
Neutral lipid storage disease with myopathy
Late-onset distal myopathy, Markesbery-Griggs type
Postsynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes
Synaptic congenital myasthenic syndromes
Acute inflammatory demyelinating polyradiculoneuropathy
Acute motor and sensory axonal neuropathy
Spinal muscular atrophy with respiratory distress type 1
Multiple system atrophy, parkinsonian type
Subepithelial mucinous corneal dystrophy
Posterior polymorphous corneal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Reticular dystrophy of the retinal pigment epithelium
Multifocal pattern dystrophy simulating fundus flavimaculatus
X-linked Charcot-Marie-Tooth disease type 5
Adult-onset autosomal dominant leukodystrophy
Congenitally uncorrected transposition of the great arteries with coarctation
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
Double outlet right ventricle with subpulmonary ventricular septal defect
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Pulmonary artery coming from patent ductus arteriosus
Abnormal origin of right or left pulmonary artery from the aorta
Discrete fixed membranous subaortic stenosis
Discrete fibromuscular subaortic stenosis
Congenital anomaly of the tricuspid valve chordae
Straddling and/or overriding mitral valve
Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of Fallot
Congenital patent ductus arteriosus aneurysm
Atrial septal defect, ostium secundum type
Atrial septal defect, coronary sinus type
Atrial septal defect, sinus venosus type
Atrial septal defect, ostium primum type
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
Right superior vena cava connecting to left-sided atrium
Persistent left superior vena cava connecting to the roof of left-sided atrium
Right inferior vena cava connecting to left-sided atrium
Azygos continuation of the inferior vena cava
Congenital stenosis of the inferior vena cava
Inferior vena cava interruption without azygos continuation
Congenital partial pulmonary venous return anomaly
Congenital total pulmonary venous return anomaly
Congenital complete agenesis of pericardium
Congenital partial agenesis of pericardium
6-phosphogluconate dehydrogenase deficiency
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Lymphedema-posterior choanal atresia syndrome
Paternal uniparental disomy of chromosome 13
Turner syndrome due to structural X chromosome anomalies
Complete androgen insensitivity syndrome
Spondyloepimetaphyseal dysplasia, Handigodu type
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Mesial temporal lobe epilepsy with hippocampal sclerosis
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Punctate acrokeratoderma freckle-like pigmentation
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Atypical progressive supranuclear palsy syndrome
Dentin dysplasia-sclerotic bones syndrome
Resistance to thyrotropin-releasing hormone syndrome
Glycogen storage disease due to muscle beta-enolase deficiency
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Isolated permanent neonatal diabetes mellitus
Acute megakaryoblastic leukemia in children with Down syndrome
Cushing syndrome due to ectopic ACTH secretion
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Malignant granulosa cell tumor of the ovary
Malignant Sertoli-Leydig cell tumor of the ovary
Theca steroid-producing cell malignant tumor of ovary, not further specified
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2G
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Squamous cell carcinoma of the esophagus
Lissencephaly with cerebellar hypoplasia type A
Lissencephaly with cerebellar hypoplasia type B
Lissencephaly with cerebellar hypoplasia type C
Lissencephaly with cerebellar hypoplasia type D
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly with cerebellar hypoplasia type F
Myelodysplastic neoplasm with increased blasts type 1
Myelodysplastic neoplasm with increased blasts type 2
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
F12-related hereditary angioedema with normal C1Inh
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Primary hepatic neuroendocrine carcinoma
Porphyria due to ALA dehydratase deficiency
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 4
Autosomal recessive spastic paraplegia type 5A
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 19
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 28
Autosomal dominant spastic paraplegia type 29
Autosomal dominant spastic paraplegia type 31
Female restricted epilepsy with intellectual disability
Autosomal dominant epilepsy with auditory features
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 4
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive dopa-responsive dystonia
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Rare non-syndromic intellectual disability
Anomaly of the mitral subvalvular apparatus
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Chronic diarrhea due to glucoamylase deficiency
Congenital enterocyte heparan sulfate deficiency
Unclassified intestinal pseudoobstruction
Neonatal hypoxic and ischemic brain injury
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Overgrowth-macrocephaly-facial dysmorphism syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Capillary malformation-arteriovenous malformation
Spondyloepiphyseal dysplasia with metatarsal shortening
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
X-linked intellectual disability-cerebellar hypoplasia syndrome
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Hypotonia with lactic acidemia and hyperammonemia
Drug reaction with eosinophilia and systemic symptoms
Encephalopathy due to prosaposin deficiency
Hypomyelination with atrophy of basal ganglia and cerebellum
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Progressive cavitating leukoencephalopathy
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Microphthalmia with brain and digit anomalies
Autosomal recessive spastic paraplegia type 39
Autosomal recessive ataxia due to ubiquinone deficiency
Distal hereditary motor neuropathy type 1
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy, Jerash type
X-linked distal spinal muscular atrophy type 3
Hereditary sensory and autonomic neuropathy type 1B
Hereditary sensory and autonomic neuropathy with deafness and global delay
Mutilating hereditary sensory neuropathy with spastic paraplegia
X-linked hereditary sensory and autonomic neuropathy with deafness
Distal hereditary motor neuropathy type 7
Secondary hypoparathyroidism due to impaired parathormon secretion
Primary intraosseous venous malformation
Autosomal dominant slowed nerve conduction velocity
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Stapes ankylosis with broad thumbs and toes
Titin-related limb-girdle muscular dystrophy R10
Benign familial neonatal-infantile seizures
Short stature due to primary acid-labile subunit deficiency
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Autosomal dominant macrothrombocytopenia
Bilateral microtia-deafness-cleft palate syndrome
Palmoplantar keratoderma, Nagashima type
Primary angiitis of the central nervous system
Digestive duplication cyst of the tongue
External auditory canal aplasia/hypoplasia
Isolated congenital hypoglossia/aglossia
Rapidly involuting congenital hemangioma
Cerebrofacial arteriovenous metameric syndrome type 1
Cerebrofacial arteriovenous metameric syndrome type 3
Median cleft of the upper lip and maxilla
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Dyssegmental dysplasia, Rolland-Desbuquois type
Hereditary hypophosphatemic rickets with hypercalciuria
Congenital or early infantile CACH syndrome
Mesoaxial synostotic syndactyly with phalangeal reduction
Pantothenate kinase-associated neurodegeneration
Combined immunodeficiency with granulomatosis
Oculoauricular syndrome, Schorderet type
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Congenital muscular dystrophy due to LMNA mutation
Hereditary progressive mucinous histiocytosis
Hemophagocytic syndrome associated with an infection
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
Ectodermal dysplasia-skin fragility syndrome
Localized dystrophic epidermolysis bullosa, acral form
Localized dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with pyloric atresia
Isolated congenital nasal pyriform aperture stenosis
Isolated congenital auditory ossicle malformation
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Spondyloepiphyseal dysplasia, Reardon type
Spondyloepiphyseal dysplasia tarda, Kohn type
Spondyloepiphyseal dysplasia, MacDermot type
CNTNAP2-related developmental and epileptic encephalopathy
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Febrile infection-related epilepsy syndrome
Benign familial mesial temporal lobe epilepsy
Rolandic epilepsy-speech dyspraxia syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Posttransplant acute limbic encephalitis
X-linked intellectual disability, Najm type
X-linked intellectual disability, Nascimento type
X-linked cerebral-cerebellar-coloboma syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked intellectual disability, Cilliers type
X-linked intellectual disability, Van Esch type
X-linked intellectual disability-craniofacioskeletal syndrome
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Familial mesial temporal lobe epilepsy with febrile seizures
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Lowry type
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
Multiple epiphyseal dysplasia-miniepiphyses syndrome
Brachydactyly-short stature-retinitis pigmentosa syndrome
Metaphyseal chondrodysplasia, Kaitila type
Autosomal dominant otospondylomegaepiphyseal dysplasia
FASTKD2-related infantile mitochondrial encephalomyopathy
Intellectual disability, Birk-Barel type
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Porokeratotic eccrine ostial and dermal duct nevus
Benign partial epilepsy of infancy with complex partial seizures
Benign partial epilepsy with secondarily generalized seizures in infancy
Benign infantile seizures associated with mild gastroenteritis
Benign infantile focal epilepsy with midline spikes and waves during sleep
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Spondyloepimetaphyseal dysplasia, Geneviève type
Spondylometaphyseal dysplasia, Golden type
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Hereditary cryohydrocytosis with reduced stomatin
Hereditary North American Indian childhood cirrhosis
Hyperandrogenism due to cortisone reductase deficiency
Sudden infant death-dysgenesis of the testes syndrome
Methionine adenosyltransferase I/III deficiency
Congenital enteropathy due to enteropeptidase deficiency
Seborrhea-like dermatitis with psoriasiform elements
Congenital deficiency in alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein
Familial scaphocephaly syndrome, McGillivray type
Autosomal thrombocytopenia with normal platelets
Generalized basaloid follicular hamartoma syndrome
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Refractory anemia with excess blasts in transformation
Combined immunodeficiency due to CD3gamma deficiency
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Combined immunodeficiency due to CRAC channel dysfunction
Severe combined immunodeficiency due to FOXN1 deficiency
Transient hypogammaglobulinemia of infancy
Recurrent infections due to specific granule deficiency
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to a late component of complement deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Autosomal recessive centronuclear myopathy
Autosomal dominant centronuclear myopathy
Recurrent Neisseria infections due to factor D deficiency
Autosomal dominant spastic paraplegia type 37
Autosomal dominant spastic paraplegia type 38
Autosomal recessive spastic paraplegia type 32
Autosomal recessive spastic paraplegia type 35
Metabolic myopathy due to lactate transporter defect
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Blindness-scoliosis-arachnodactyly syndrome
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Autosomal dominant spastic paraplegia type 42
Spondyloepimetaphyseal dysplasia, aggrecan type
Generalized pseudohypoaldosteronism type 1
Myopathy with hexagonally cross-linked tubular arrays
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prader-Willi syndrome due to imprinting mutation
Bleeding disorder in hemophilia A carriers
Bleeding disorder in hemophilia B carriers
Moderate multiminicore disease with hand involvement
Antenatal multiminicore disease with arthrogryposis multiplex congenita
Isolated sternocostoclavicular hyperostosis
Undifferentiated embryonal sarcoma of the liver
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteopetrosis-hypogammaglobulinemia syndrome
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Distal myopathy with anterior tibial onset
X-linked myopathy with postural muscle atrophy
Hereditary myopathy with early respiratory failure
Autosomal dominant non-syndromic intellectual disability
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Primary cutaneous gamma/delta-positive T-cell lymphoma
Primary cutaneous marginal zone B-cell lymphoma
Primary cutaneous follicle center lymphoma
Primary cutaneous diffuse large B-cell lymphoma, leg type
Obesity due to congenital leptin resistance
Obesity due to leptin receptor gene deficiency
Bicervical bicornuate uterus and blind hemivagina
Bicervical bicornuate uterus with patent cervix and vagina
Familial juvenile hypertrophy of the breast
Isolated congenital breast hypoplasia/aplasia
Hyper-IgM syndrome with susceptibility to opportunistic infections
Hyper-IgM syndrome without susceptibility to opportunistic infections
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Hermansky-Pudlak syndrome due to AP-3 deficiency
Infantile LAD-like disease due to RAC2 deficiency
Bacterial susceptibility due to TLR signaling pathway deficiency
Cushing syndrome due to bilateral macronodular adrenocortical disease
Familial isolated hypoparathyroidism due to impaired PTH secretion
Corticosteroid-binding globulin deficiency
Hereditary hypercarotenemia and vitamin A deficiency
Familial clubfoot with or without associated lower limb anomalies
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Endocrine-cerebro-osteodysplasia syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Malignant non-dysgerminomatous germ cell tumor of ovary
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Anoctamin-5-related limb-girdle muscular dystrophy R12
Fukutin-related limb-girdle muscular dystrophy R13
POMT2-related limb-girdle muscular dystrophy R14
POMGNT1-related limb-girdle muscular dystrophy R15
Rippling muscle disease with myasthenia gravis
Autosomal recessive lower motor neuron disease with childhood onset
Subacute inflammatory demyelinating polyneuropathy
Isolated asymptomatic elevation of creatine phosphokinase
Bilateral parasagittal parieto-occipital polymicrogyria
Non-paraneoplastic sensory ganglionopathy
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Autosomal dominant adult-onset proximal spinal muscular atrophy
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Severe neonatal-onset encephalopathy with microcephaly
Autosomal dominant rhegmatogenous retinal detachment
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Cone dystrophy with supernormal rod response
Benign nocturnal alternating hemiplegia of childhood
Non-papillary transitional cell carcinoma of the bladder
Sterile multifocal osteomyelitis with periostitis and pustulosis
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Inherited congenital spastic tetraplegia
Lethal polymalformative syndrome, Boissel type
Congenital lethal myopathy, Compton-North type
Macrocephaly-intellectual disability-autism syndrome
Congenital temporomandibular joint ankylosis
Malignant mixed Müllerian tumor of the ovary
Salivary gland type cancer of the breast
Primitive neuroectodermal tumor of the corpus uteri
Squamous cell carcinoma of the corpus uteri
Undifferentiated carcinoma of the corpus uteri
High-grade neuroendocrine carcinoma of the corpus uteri
Low-grade neuroendocrine tumor of the corpus uteri
Transitional cell carcinoma of the corpus uteri
Malignant germ cell tumor of the corpus uteri
Squamous cell carcinoma of the cervix uteri
High-grade neuroendocrine carcinoma of the cervix uteri
Primitive neuroectodermal tumor of the cervix uteri
Adenoid cystic carcinoma of the cervix uteri
Adenoid basal carcinoma of the cervix uteri
Glassy cell carcinoma of the cervix uteri
Malignant germ cell tumor of the cervix uteri
Congenitally corrected transposition of the great arteries
Isolated congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Classic pantothenate kinase-associated neurodegeneration
Atypical pantothenate kinase-associated neurodegeneration
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, adult neurologic onset
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Pulmonary fungal infections in patients deemed at risk
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 2, attenuated form
Progressive multifocal leukoencephalopathy
REN-related autosomal dominant tubulointerstitial kidney disease
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Neurodegenerative syndrome due to cerebral folate transport deficiency
Combined immunodeficiency due to DOCK8 deficiency
Progressive polyneuropathy with bilateral striatal necrosis
Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Neuroendocrine cell hyperplasia of infancy
Neonatal acute respiratory distress due to SP-B deficiency
Chronic respiratory distress with surfactant metabolism deficiency
Sensorineural deafness with dilated cardiomyopathy
Inherited isolated arrhythmogenic cardiomyopathy
Xeroderma pigmentosum-Cockayne syndrome complex
Bleeding diathesis due to thromboxane synthesis deficiency
Macrothrombocytopenia with mitral valve insufficiency
Attenuated familial adenomatous polyposis
Hereditary sclerosing poikiloderma, Weary type
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Familial cerebral cavernous malformation
Combined hyperactive dysfunction syndrome of the cranial nerves
Combined immunodeficiency with facio-oculo-skeletal anomalies
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Sporadic infantile bilateral striatal necrosis
Familial infantile bilateral striatal necrosis
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Genetic transient congenital hypothyroidism
Multiple system atrophy, cerebellar type
Autosomal recessive optic atrophy, OPA7 type
Severe combined immunodeficiency due to CORO1A deficiency
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Idiopathic ventricular fibrillation, non Brugada type
Autosomal dominant striatal neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyl transferase II deficiency, neonatal form
Virus-associated trichodysplasia spinulosa
Spondylo-megaepiphyseal-metaphyseal dysplasia
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency
Classical-like Ehlers-Danlos syndrome type 1
Ehlers-Danlos/osteogenesis imperfecta syndrome
High-grade dysplasia in patients with Barrett esophagus
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Combined immunodeficiency due to partial RAG1 deficiency
Beta-thalassemia-X-linked thrombocytopenia syndrome
Alpha-thalassemia-myelodysplastic syndrome
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Paraparetic variant of Guillain-Barré syndrome
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Autosomal dominant generalized dystrophic epidermolysis bullosa
Congenital erosive and vesicular dermatosis
Adrenocortical carcinoma with pure aldosterone hypersecretion
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Isolated growth hormone deficiency type III
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Severe X-linked mitochondrial encephalomyopathy
Combined immunodeficiency due to CD27 deficiency
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Beckwith-Wiedemann syndrome due to NSD1 mutation
Ileal pouch anal anastomosis related faecal incontinence
Congenital primary megaureter, obstructed form
Congenital primary megaureter, refluxing form
Congenital primary megaureter, nonrefluxing and unobstructed form
Isolated congenital hypogonadotropic hypogonadism
Isolated thyrotropin-releasing hormone deficiency
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Classic progressive supranuclear palsy syndrome
Progressive supranuclear palsy-predominant parkinsonism syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Nijmegen breakage syndrome-like disorder
Dimethylglycine dehydrogenase deficiency
De novo thrombotic microangiopathy after kidney transplantation
Biliary atresia with splenic malformation syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Sporadic adult-onset ataxia of unknown etiology
Hyperphosphatasia-intellectual disability syndrome
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal dominant secondary polycythemia
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Inflammatory myopathy with abundant macrophages
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Juvenile cataract-microcornea-renal glucosuria syndrome
MUTYH-related attenuated familial adenomatous polyposis
APC-related attenuated familial adenomatous polyposis
Autosomal recessive ataxia due to PEX10 deficiency
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
NLRP12-associated hereditary periodic fever syndrome
Autosomal dominant optic atrophy and peripheral neuropathy
Polymicrogyria with optic nerve hypoplasia
Paternal uniparental disomy of chromosome 1
Maternal uniparental disomy of chromosome 1
SATB2-associated syndrome due to a chromosomal rearrangement
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Autosomal dominant spastic ataxia type 1
Benign concentric annular macular dystrophy
Parietal foramina with clavicular hypoplasia
Pigmented paravenous retinochoroidal atrophy
Infantile onset panniculitis with uveitis and systemic granulomatosis
Unexplained long-lasting fever/inflammatory syndrome
Sickle cell-beta-thalassemia disease syndrome
Sickle cell-hemoglobin C disease syndrome
Sickle cell-hemoglobin D disease syndrome
Sickle cell-hemoglobin E disease syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Localized junctional epidermolysis bullosa
Medulloblastoma with extensive nodularity
Pineal parenchymal tumor of intermediate differentiation
Desmoplastic infantile astrocytoma/ganglioglioma
Yolk sac tumor of central nervous system
Choriocarcinoma of the central nervous system
Mixed germ cell tumor of central nervous system
Primary melanoma of the central nervous system
Malignant peripheral nerve sheath tumor with perineurial differentiation
Constitutional mismatch repair deficiency syndrome
Melanoma and neural system tumor syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Plectin-related limb-girdle muscular dystrophy R17
Temple syndrome due to paternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Temple syndrome due to paternal 14q32.2 hypomethylation
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Genetic hyperferritinemia without iron overload
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial DNA depletion syndrome, myopathic form
Autosomal recessive progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Renal tubulopathy-encephalopathy-liver failure syndrome
Isolated cytochrome C oxidase deficiency
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Adult-onset autosomal recessive sideroblastic anemia
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Autosomal recessive sideroblastic anemia
Distal 7q11.23 microduplication syndrome
FOXG1 syndrome due to 14q12 microdeletion
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Paternal 20q13.2q13.3 microdeletion syndrome
Distal 22q11.2 microduplication syndrome
Atypical Norrie disease due to Xp11.3 microdeletion
Maternal uniparental disomy of chromosome X
Paternal uniparental disomy of chromosome X
Mowat-Wilson syndrome due to monosomy 2q22
Mowat-Wilson syndrome due to a ZEB2 point mutation
Familial adenomatous polyposis due to 5q22.2 microdeletion
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Kleefstra syndrome due to a point mutation
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Well-differentiated thymic neuroendocrine carcinoma
Moderately-differentiated thymic neuroendocrine carcinoma
Poorly differentiated thymic neuroendocrine carcinoma
Postcardiotomy right ventricular failure
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Congenital hyperinsulinism due to HNF4A deficiency
Spondyloepimetaphyseal dysplasia, Maroteaux type
Acute necrotizing encephalopathy of childhood
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary pulmonary alveolar proteinosis
Drug or radiation exposure-related interstitial lung disease
RAS-associated autoimmune leukoproliferative disease
Thiamine-responsive maple syrup urine disease
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Hereditary thrombocytopenia with normal platelets
Isolated focal cortical dysplasia type I
Isolated focal cortical dysplasia type Ia
Isolated focal cortical dysplasia type Ib
Isolated focal cortical dysplasia type Ic
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Isolated total cerebellar vermis agenesis
Isolated partial cerebellar vermis agenesis
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Isolated unilateral hemispheric cerebellar hypoplasia
Isolated bilateral hemispheric cerebellar hypoplasia
Congenital non-communicating hydrocephalus
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
Dianzani autoimmune lymphoproliferative disease
Idiopathic pulmonary arterial hypertension
Heritable pulmonary arterial hypertension
Behavioral variant of frontotemporal dementia
Frontotemporal dementia with motor neuron disease
Hemolytic disease of the newborn with Kell alloimmunization
Bile acid CoA ligase deficiency and defective amidation
Malignant epithelial tumor of salivary glands
Benign epithelial tumor of salivary glands
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Non-syndromic male infertility due to sperm motility disorder
Hemihyperplasia-multiple lipomatosis syndrome
Lower motor neuron syndrome with late-adult onset
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Non-insulinoma pancreatogenous hypoglycemia syndrome
Sporadic pheochromocytoma/secreting paraganglioma
Symptomatic form of Coffin-Lowry syndrome in female carriers
Toxic maculopathy due to antimalarial drugs
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Severe combined immunodeficiency due to LCK deficiency
Methylmalonic aciduria due to transcobalamin receptor defect
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
PLIN1-related familial partial lipodystrophy
Autosomal semi-dominant severe lipodystrophic laminopathy
Erythropoietic uroporphyria associated with myeloid malignancy
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Familial omphalocele syndrome with facial dysmorphism
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fatal infantile hypertonic myofibrillar myopathy
Chondrodysplasia with joint dislocations, gPAPP type
Hereditary sensorimotor neuropathy with hyperelastic skin
Familial progressive hyper- and hypopigmentation
Multiple congenital anomalies-hypotonia-seizures syndrome
Megaconial congenital muscular dystrophy
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Severe intellectual disability and progressive spastic paraplegia
Pseudoxanthomatous diffuse cutaneous mastocytosis
Intralobar congenital pulmonary sequestration
Extralobar congenital pulmonary sequestration
Communicating congenital bronchopulmonary-foregut malformation
Congenital pulmonary airway malformation type 0
Congenital pulmonary airway malformation type 1
Congenital pulmonary airway malformation type 2
Congenital pulmonary airway malformation type 3
Congenital pulmonary airway malformation type 4
Congenital reticular ichthyosiform erythroderma
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Adult-onset autosomal recessive cerebellar ataxia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Reversible cerebral vasoconstriction syndrome
Well-differentiated fetal adenocarcinoma of the lung
Glycerol kinase deficiency, juvenile form
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Hypocalcemic vitamin D-dependent rickets
Autosomal recessive hypophosphatemic rickets
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Infective dermatitis associated with HTLV-1
Primary non-gestational choriocarcinoma of ovary
Non-central nervous system-localized embryonal carcinoma
Early-onset myopathy with fatal cardiomyopathy
Intellectual disability-alacrima-achalasia syndrome
Congenital cataract microcornea with corneal opacity
Combined malonic and methylmalonic acidemia
BAP1-related tumor predisposition syndrome
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Dysmorphism-conductive hearing loss-heart defect syndrome
Mitochondrial membrane protein-associated neurodegeneration
Hereditary arterial and articular multiple calcification syndrome
Epstein-Barr virus-positive diffuse large B-cell lymphoma
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Hypermethioninemia due to glycine N-methyltransferase deficiency
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Infantile-onset ascending hereditary spastic paralysis
Acute generalized exanthematous pustulosis
Malignant migrating focal seizures of infancy
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Congenital hereditary endothelial dystrophy type II
Blepharophimosis-intellectual disability syndrome, MKB type
Blepharophimosis-intellectual disability syndrome, Verloes type
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Congenital dyserythropoietic anemia type IV
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Lethal occipital encephalocele-skeletal dysplasia syndrome
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Microcephaly-capillary malformation syndrome
Neonatal inflammatory skin and bowel disease
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Isolated absence of upper arm and forearm with hand present
Isolated absence of thigh and lower leg with foot present
Isolated absence of both forearm and hand
Isolated absence of both lower leg and foot
Familial isolated clinodactyly of fingers
Congenital pseudoarthrosis of the fibula
Congenital pseudoarthrosis of the radius
Isolated congenital radial head dislocation
Congenital elbow dislocation, unilateral
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Severe congenital hypochromic anemia with ringed sideroblasts
Congenital cataract-hearing loss-severe developmental delay syndrome
Persistent polyclonal B-cell lymphocytosis
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
PLCG2-associated antibody deficiency and immune dysregulation
Progeroid and marfanoid aspect-lipodystrophy syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Autosomal recessive infantile hypercalcemia
Combined pulmonary fibrosis-emphysema syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Oligodontia-cancer predisposition syndrome
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Diffuse large B-cell lymphoma of the central nervous system
T-cell/histiocyte rich large B cell lymphoma
Primary cutaneous anaplastic large cell lymphoma
Splenic diffuse red pulp small B-cell lymphoma
Diffuse large B-cell lymphoma with chronic inflammation
ALK-positive anaplastic large cell lymphoma
ALK-negative anaplastic large cell lymphoma
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Autosomal recessive spastic paraplegia type 48
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Isolated hereditary congenital facial paralysis
Congenital hereditary facial paralysis-variable hearing loss syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Hereditary sodium channelopathy-related small fibers neuropathy
X-linked complicated spastic paraplegia type 1
Complication after organ transplantation
Familial normophosphatemic tumoral calcinosis
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Delayed encephalopathy due to carbon monoxide poisoning
Curly hair-acral keratoderma-caries syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Erythrocyte galactose epimerase deficiency
Generalized galactose epimerase deficiency
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Pancreatic triacylglycerol lipase deficiency
Combined pancreatic lipase-colipase deficiency
Atypical Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, adult form
Free sialic acid storage disease, infantile form
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Infantile cerebellar-retinal degeneration
Developmental and speech delay due to SOX5 deficiency
Epstein-Barr virus-associated gastric carcinoma
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Idiopathic linear interstitial keratitis
Gastric adenocarcinoma and proximal polyposis of the stomach
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Hereditary sensory and autonomic neuropathy type 6
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Spigelian hernia-cryptorchidism syndrome
Young adult-onset distal hereditary motor neuropathy
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Autosomal recessive spastic ataxia with leukoencephalopathy
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Non-progressive cerebellar ataxia with intellectual disability
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Combined immunodeficiency due to STK4 deficiency
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Atypical dentin dysplasia due to SMOC2 deficiency
Short stature due to partial GHR deficiency
Autosomal dominant proximal renal tubular acidosis
X-linked non progressive cerebellar ataxia
Cataract-congenital heart disease-neural tube defect syndrome
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Severe combined immunodeficiency due to DNA-PKcs deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to STIM1 deficiency
Congenital myopathy with internal nuclei and atypical cores
Diencephalic-mesencephalic junction dysplasia
Chondroectodermal dysplasia with night blindness
Autosomal recessive spastic paraplegia type 53
Multilocular cystic renal neoplasm of low malignant potential
MiT family translocation renal cell carcinoma
Mucinous tubular and spindle cell renal carcinoma
Autosomal recessive myogenic arthrogryposis multiplex congenita
Carney complex-trismus-pseudocamptodactyly syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Acute myeloid leukemia with CEBPA somatic mutations
Familial papillary or follicular thyroid carcinoma
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
X-linked mendelian susceptibility to mycobacterial diseases
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Constitutional megaloblastic anemia with severe neurologic disease
Microcephalic primordial dwarfism, Dauber type
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Autosomal dominant spastic paraplegia type 41
MT-ATP6-related mitochondrial spastic paraplegia
Autosomal dominant spastic paraplegia type 36
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 54
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 44
Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive spastic paraplegia type 56
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
Multiple paragangliomas associated with polycythemia
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Sinoatrial node dysfunction and deafness
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Hereditary inclusion body myopathy type 4
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Autosomal recessive axonal neuropathy with neuromyotonia
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Combined oxidative phosphorylation defect type 11
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Proteasome-associated autoinflammatory syndrome
46,XY ovotesticular difference of sex development
Leydig cell hypoplasia due to LHB deficiency
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Tall stature-long halluces-multiple extra-epiphyses syndrome
Developmental delay with autism spectrum disorder and gait instability
Autosomal dominant neovascular inflammatory vitreoretinopathy
Microcephalic primordial dwarfism due to ZNF335 deficiency
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Congenital chronic diarrhea with protein-losing enteropathy
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Beta-propeller protein-associated neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Thrombocythemia with distal limb defects
Autosomal recessive frontotemporal pachygyria
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant focal dystonia, DYT25 type
Acute megakaryoblastic leukemia in children without Down syndrome
Spastic paraplegia-Paget disease of bone syndrome
Adult-onset distal myopathy due to VCP mutation
Mosaic genome-wide paternal uniparental disomy
Non-hypoproteinemic hypertrophic gastropathy
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Generalized juvenile polyposis/juvenile polyposis coli
Classic neuroendocrine tumor of appendix
Hemoglobin Lepore-beta-thalassemia syndrome
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Severe congenital neutropenia due to G6PC3 deficiency
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Susceptibility to infection due to TYK2 deficiency
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Spectrin-associated autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
DNA2-related mitochondrial DNA deletion syndrome
ISPD-related limb-girdle muscular dystrophy R20
Autism spectrum disorder due to AUTS2 deficiency
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Progressive myoclonic epilepsy with dystonia
Autosomal recessive cerebellar ataxia with late-onset spasticity
Brain dopamine-serotonin vesicular transport disease
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Hereditary benign intraepithelial dyskeratosis
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
X-linked Charcot-Marie-Tooth disease type 6
Cobblestone lissencephaly without muscular or ocular involvement
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Progressive retinal dystrophy due to retinol transport defect
Minimal pigment oculocutaneous albinism type 1
Temperature-sensitive oculocutaneous albinism type 1
Epileptic encephalopathy with global cerebral demyelination
Familial primary localized cutaneous amyloidosis
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency, benign type
Congenital myasthenic syndromes with glycosylation defect
Congenital retinal arteriovenous communication
Idiopathic macular telangiectasia type 1
Idiopathic macular telangiectasia type 3
ANK3-related intellectual disability-sleep disturbance syndrome
Hemolytic uremic syndrome with DGKE deficiency
Autosomal recessive cutis laxa type 2, classic type
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Primary non-essential cutis verticis gyrata
Combined immunodeficiency due to CARD11 deficiency
Combined immunodeficiency due to IL21R deficiency
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
High myopia-sensorineural deafness syndrome
Severe neurodegenerative syndrome with lipodystrophy
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Multiple mitochondrial dysfunctions syndrome type 3
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Non-seminomatous germ cell tumor of testis
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Intellectual disability-strabismus syndrome
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Acute encephalopathy with biphasic seizures and late reduced diffusion
CTCF-related neurodevelopmental disorder
LMNA-related cardiocutaneous progeria syndrome
GMPPB-related limb-girdle muscular dystrophy R19
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
X-linked parkinsonism-spasticity syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Koolen-De Vries syndrome due to a point mutation
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
X-linked intellectual disability due to GRIA3 mutations
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Severe early-childhood-onset retinal dystrophy
Infantile epileptic-dyskinetic encephalopathy
Intellectual disability-brachydactyly-Pierre Robin syndrome
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
TRAPPC11-related limb-girdle muscular dystrophy R18
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
2p21 microdeletion syndrome without cystinuria
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Combined oxidative phosphorylation defect type 17
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Diffuse palmoplantar keratoderma with painful fissures
Focal palmoplantar keratoderma with joint keratoses
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Proximal 16p11.2 microduplication syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Peripheral primitive neuroectodermal tumor
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Congenital muscular dystrophy with hyperlaxity
Hypotonia-speech impairment-severe cognitive delay syndrome
Multicentric osteolysis-nodulosis-arthropathy spectrum
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Fatal post-viral neurodegenerative disorder
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
SURF1-related Charcot-Marie-Tooth disease type 4
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Familial episodic pain syndrome with predominantly upper body involvement
Familial episodic pain syndrome with predominantly lower limb involvement
Hereditary sensory and autonomic neuropathy type 7
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Off-periods in Parkinson disease not responding to oral treatment
Homozygous familial hypercholesterolemia
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Multiple acyl-CoA dehydrogenase deficiency, mild type
Silver-Russell syndrome due to a point mutation
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Macrocephaly-developmental delay syndrome
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
COASY protein-associated neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Severe combined immunodeficiency due to IKK2 deficiency
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
TCR-alpha-beta-positive T-cell deficiency
Combined immunodeficiency due to MALT1 deficiency
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
MAGEL2-related Prader-Willi-like syndrome
Hereditary cryohydrocytosis with normal stomatin
Alpha-B crystallin-related late-onset myopathy
KLHL9-related early-onset distal myopathy
Finnish upper limb-onset distal myopathy
Secondary non-traumatic avascular necrosis
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation
Pancytopenia-developmental delay syndrome
Proximal myopathy with extrapyramidal signs
Optic atrophy-intellectual disability syndrome
Autosomal recessive spastic paraplegia type 61
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 59
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 66
Autosomal recessive spastic paraplegia type 67
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 71
Childhood-onset spasticity with hyperglycinemia
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Huntington disease-like syndrome due to C9ORF72 expansions
AXIN2-related attenuated familial adenomatous polyposis
Familial median cleft of the upper and lower lips
Moyamoya disease with early-onset achalasia
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Acute myeloid leukemia with t(6;9)(p23;q34)
Acute myeloid leukemia with t(9;11)(p22;q23)
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Acute myeloid leukemia with NPM1 somatic mutations
Autosomal recessive distal renal tubular acidosis
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome
Female infertility due to zona pellucida defect
Severe intellectual disability-progressive spastic diplegia syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Clear cell papillary renal cell carcinoma
Acquired cystic disease-associated renal cell carcinoma
Spinal muscular atrophy with respiratory distress type 2
Familial atypical multiple mole melanoma syndrome
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Mild phosphoribosylpyrophosphate synthetase superactivity
Severe phosphoribosylpyrophosphate synthetase superactivity
Proton-pump inhibitor-responsive esophageal eosinophilia
Pulmonary non-tuberculous mycobacterial infection
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
PRKAR1B-related neurodegenerative dementia with intermediate filaments
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Epidermolysis bullosa simplex due to BP230 deficiency
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Carcinoma of esophagus, salivary gland type
Secondary pulmonary alveolar proteinosis
Glycogen storage disease due to acid maltase deficiency, late-onset
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Adult-onset cervical dystonia, DYT23 type
Bleeding disorder due to CalDAG-GEFI deficiency
Severe combined immunodeficiency due to CTPS1 deficiency
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Woolly hair-palmoplantar keratoderma syndrome
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Hereditary clear cell renal cell carcinoma
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Severe congenital neutropenia due to JAGN1 deficiency
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Squamous cell carcinoma of the small intestine
Squamous cell carcinoma of the anal canal
Mucinous cystadenocarcinoma of the pancreas
Intraductal papillary mucinous carcinoma of pancreas
Solid pseudopapillary carcinoma of pancreas
Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Congenital myopathy with myasthenic-like onset
TOR1AIP1-related limb-girdle muscular dystrophy
Adenocarcinoma of the liver and intrahepatic biliary tract
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Squamous cell carcinoma of liver and intrahepatic biliary tract
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
STING-associated vasculopathy with onset in infancy
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Combined immunodeficiency due to OX40 deficiency
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
X-linked scapuloperoneal muscular dystrophy
Autosomal recessive spastic paraplegia type 57
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
CIDEC-related familial partial lipodystrophy
LIPE-related familial partial lipodystrophy
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
Chronic atrial and intestinal dysrhythmia syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Contractures-developmental delay-Pierre Robin syndrome
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Thrombomodulin-related bleeding disorder
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Microcephalic primordial dwarfism-insulin resistance syndrome
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Combined immunodeficiency-enteropathy spectrum
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Ketoacidosis due to monocarboxylate transporter-1 deficiency
RARS-related autosomal recessive hypomyelinating leukodystrophy
PCNA-related progressive neurodegenerative photosensitivity syndrome
STAT3-related early-onset multisystem autoimmune disease
Severe autosomal recessive macrothrombocytopenia
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Progressive encephalomyelitis with rigidity and myoclonus
Zinc-responsive necrolytic acral erythema
Non-recovering obstetric brachial plexus lesion
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Interstitial lung disease due to SP-C deficiency
Interstitial lung disease due to ABCA3 deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Extensive peripapillary myelinated nerve fibers
Combined hamartoma of the retina and retinal pigment epithelium
Early-onset posterior subcapsular cataract
Non-specific early-onset epileptic encephalopathy
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Hypothalamic adipsic hypernatraemia syndrome
Lymphoplasmacytic lymphoma without IgM production
Postural orthostatic tachycardia syndrome due to NET deficiency
DNAJB2-related Charcot-Marie-Tooth disease type 2
Mandibulofacial dysostosis with alopecia
Combined oxidative phosphorylation defect type 23
46,XX ovarian dysgenesis-short stature syndrome
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Autoimmune interstitial lung disease-arthritis syndrome
Autosomal dominant spastic paraplegia type 73
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Combined oxidative phosphorylation defect type 24
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Combined immunodeficiency due to LRBA deficiency
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Limb-girdle muscular dystrophy due to POMK deficiency
Combined immunodeficiency due to DOCK2 deficiency
Susceptibility to localized juvenile periodontitis
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 9B
Autosomal recessive spastic paraplegia type 9B
Mitochondrial pyruvate carrier deficiency
Polymerase proofreading-related adenomatous polyposis
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Tremor-ataxia-central hypomyelination syndrome
Combined oxidative phosphorylation defect type 25
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Progressive scapulohumeroperoneal distal myopathy
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Progressive autosomal recessive ataxia-deafness syndrome
Isolated focal non-epidermolytic palmoplantar keratoderma
Regressive spondylometaphyseal dysplasia
Symptomatic form of fragile X syndrome in female carriers
IgG4-related submandibular gland disease
Familial congenital nasolacrimal duct obstruction
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Congenital insensitivity to pain with severe intellectual disability
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
NTHL1-related attenuated familial adenomatous polyposis
Infantile multisystem neurologic-endocrine-pancreatic disease
Hereditary sensory neuropathy-deafness-dementia syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
Hereditary neuroendocrine tumor of small intestine
Autosomal dominant mitochondrial myopathy with exercise intolerance
Predisposition to invasive fungal disease due to CARD9 deficiency
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Multiple mitochondrial dysfunctions syndrome type 4
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Idiopathic spontaneous coronary artery dissection
Papillary intralymphatic angioendothelioma
Partially involuting congenital hemangioma
Spondyloepiphyseal dysplasia, Stanescu type
Autosomal recessive spastic paraplegia type 75
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
DYRK1A-related intellectual disability syndrome
Intellectual disability syndrome due to a DYRK1A point mutation
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Fever-associated acute infantile liver failure syndrome
Familial gastric type 1 neuroendocrine tumor
Symptomatic form of HFE-related hemochromatosis
Class I glucose-6-phosphate dehydrogenase deficiency
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Martinique crinkled retinal pigment epitheliopathy
Autosomal recessive spastic paraplegia type 77
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal dominant thrombocytopenia with platelet secretion defect
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Seizures-scoliosis-macrocephaly syndrome
VPS11-related autosomal recessive hypomyelinating leukodystrophy
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Microcephalic cortical malformations-short stature due to RTTN deficiency
Cryptogenic multifocal ulcerous stenosing enteritis
Chronic enteropathy associated with SLCO2A1 gene
Autosomal recessive spastic paraplegia type 74
Isolated generalized anhidrosis with normal sweat glands
Colobomatous macrophthalmia-microcornea syndrome
Rhizomelic chondrodysplasia punctata type 5
BVES-related limb-girdle muscular dystrophy
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Erythrokeratodermia-cardiomyopathy syndrome
Combined immunodeficiency due to TFRC deficiency
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
PMP2-related Charcot-Marie-Tooth disease type 1
Congenital generalized hypercontractile muscle stiffness syndrome
IL21-related infantile inflammatory bowel disease
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Combined oxidative phosphorylation defect type 26
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Combined oxidative phosphorylation defect type 27
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Combined oxidative phosphorylation defect type 29
Combined oxidative phosphorylation defect type 30
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Hereditary sensory and autonomic neuropathy type 8
Progressive familial intrahepatic cholestasis type 5
Progressive familial intrahepatic cholestasis type 4
MYO5B-related progressive familial intrahepatic cholestasis
Lethal hydranencephaly-diaphragmatic hernia syndrome
MSH3-related attenuated familial adenomatous polyposis
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Isolated neonatal sclerosing cholangitis
POGLUT1-related limb-girdle muscular dystrophy R21
Hereditary thrombocytopenia with early-onset myelofibrosis
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
PYCR2-related microcephaly-progressive leukoencephalopathy
HTRA1-related autosomal dominant cerebral small vessel disease
Adenylosuccinate synthetase-like 1-related distal myopathy
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
CLCN4-related X-linked intellectual disability syndrome
EMILIN-1-related connective tissue disease
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Female infertility due to oocyte meiotic arrest
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Camptodactyly syndrome, Guadalajara type 3
Autosomal recessive spastic paraplegia type 76
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
TBCK-related intellectual disability syndrome
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
DDX41-related hematologic malignancy predisposition syndrome
RERE-related neurodevelopmental syndrome
Idiopathic pleuroparenchymal fibroelastosis
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Infantile-onset generalized dyskinesia with orofacial involvement
Childhood-onset benign chorea with striatal involvement
Squamous cell carcinoma of the hypopharynx
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Ocular anomalies-axonal neuropathy-developmental delay syndrome
MME-related autosomal dominant Charcot Marie Tooth disease type 2
Childhood-onset basal ganglia degeneration syndrome
Menstrual cycle-dependent periodic fever
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Overgrowth syndrome with 2q37 translocation
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Chronic relapsing inflammatory optic neuritis
Hao-Fountain syndrome due to 16p13.2 microdeletion
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
SIN3-related intellectual disability syndrome due to a point mutation
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Squamous cell carcinoma of the oropharynx
Squamous cell carcinoma of salivary glands
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Squamous cell carcinoma of the oral cavity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Severe combined immunodeficiency due to LAT deficiency
Combined immunodeficiency due to Moesin deficiency
Combined immunodeficiency due to GINS1 deficiency
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Ventilator-induced diaphragmatic dysfunction
Non-functioning neuroendocrine tumor of pancreas
Serotonin-producing neuroendocrine tumor of pancreas
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Oral-facial-digital syndrome with short stature and brachymesophalangy
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Hyperphenylalaninemia due to DNAJC12 deficiency
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Chronic lymphoproliferative disorder of natural killer cells
Autosomal recessive epidermolytic ichthyosis
Congenital cerebellar ataxia due to RNU12 mutation
Autosomal recessive spastic paraplegia type 78
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Autosomal recessive anterior segment dysgenesis
Proximal myopathy with focal depletion of mitochondria
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Dystonia-parkinsonism-hypermanganesemia syndrome
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
PLAA-associated neurodevelopmental disorder
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital vertebral-cardiac-renal anomalies syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Encephalopathy due to mitochondrial and peroxisomal fission defect
Severe myopia-generalized joint laxity-short stature syndrome
Diaphragmatic hernia-short bowel-asplenia syndrome
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Non-specific syndromic intellectual disability
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Hereditary angioedema with C1Inh deficiency
Acquired angioedema with C1Inh deficiency
Monoclonal mast cell activation syndrome
Duane retraction syndrome with congenital deafness
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Combined hepatocellular carcinoma and cholangiocarcinoma
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Male infertility due to acephalic spermatozoa
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
Dermoid or epidermoid cyst of the central nervous system
Progressive myoclonic epilepsy with neuroserpin inclusion bodies
Progressive dementia with neuroserpin inclusion bodies
KRT1-related diffuse nonepidermolytic keratoderma
Familial lipase maturation factor 1 deficiency
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Spondylodysplastic Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome type 2
PLG-related hereditary angioedema with normal C1Inh
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
Congenital axonal neuropathy with encephalopathy
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
X-linked lymphoproliferative disease due to SAP deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
Combined immunodeficiency due to CD70 deficiency
Combined immunodeficiency due to ITK deficiency
Growth delay-intellectual disability-hepatopathy syndrome
Anomalous aortic origin of the left coronary artery
Anomalous aortic origin of the right coronary artery
Anomalous origin of coronary artery from the pulmonary artery
Combined immunodeficiency due to CARMIL2 deficiency
GNB5-related intellectual disability-cardiac arrhythmia syndrome
Leukoencephalopathy with calcifications and cysts
CAR T cell therapy-associated cytokine release syndrome
Auditory neuropathy-optic atrophy syndrome
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
SYNGAP1-related developmental and epileptic encephalopathy
Atypical hemolytic uremic syndrome with complement gene abnormality
Infection-related hemolytic uremic syndrome
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Streptococcus pneumoniae-associated hemolytic uremic syndrome
RNF13-related severe early-onset epileptic encephalopathy
Congenital primary megaureter, refluxing and obstructed form
Congenital myopathy with reduced type 2 muscle fibers
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Fibrohistiocytic inflammatory pseudotumor of the liver
Lymphoplasmacytic inflammatory pseudotumor of the liver
FLNA-related X-linked myxomatous valvular dysplasia
Pancreatic agenesis-holoprosencephaly syndrome
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Spastic ataxia-dysarthria due to glutaminase deficiency
Neonatal epileptic encephalopathy due to glutaminase deficiency
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Autosomal recessive extra-oral halitosis
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Furuncular myiasis due to Dermatobia hominis
Furuncular myiasis due to Cordylobia anthropophaga
Furuncular myiasis due to Cordylobia rodhaini
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Primary triglyceride deposit cardiomyovasculopathy
Combined oxidative phosphorylation defect type 39
Infantile inflammatory bowel disease with neurological involvement
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
POMGNT2-related limb-girdle muscular dystrophy R24
Calpain-3-related limb-girdle muscular dystrophy D4
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Congenital autosomal recessive small-platelet thrombocytopenia
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Idiopathic non-lupus full-house nephropathy
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Idiopathic steroid-resistant nephrotic syndrome
Idiopathic multidrug-resistant nephrotic syndrome
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
Parenteral nutrition-associated cholestasis
GJC2-related late-onset primary lymphedema
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
EPHB4-related lymphatic-related hydrops fetalis
Multiple mitochondrial dysfunctions syndrome type 5
Multiple mitochondrial dysfunctions syndrome type 6
CELSR1-related late-onset primary lymphedema
Idiopathic multicentric Castleman disease
HHV-8-associated multicentric Castleman disease
QRSL1-related combined oxidative phosphorylation defect
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
RFVT2-related riboflavin transporter deficiency
RFVT3-related riboflavin transporter deficiency
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Microcephaly-short stature-limb abnormalities syndrome
WARS2-related combined oxidative phosphorylation defect
Predisposition to severe viral infection due to IRF7 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
Complete atrioventricular septal defect without ventricular hypoplasia
Partial atrioventricular septal defect with ventricular hypoplasia
Partial atrioventricular septal defect without ventricular hypoplasia
Intermediate atrioventricular septal defect
SATB2-associated syndrome due to a pathogenic variant
NLRC4-related familial cold autoinflammatory syndrome
Intraductal tubulopapillary neoplasm of pancreas
Lethal brain and heart developmental defects
QRICH1-related intellectual disability-chondrodysplasia syndrome
Congenital infiltrating lipomatosis of the face
Serine biosynthesis pathway deficiency, infantile/juvenile form
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
B-lymphoblastic leukemia/lymphoma with hypodiploidy
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
PUM1-associated developmental disability-ataxia-seizure syndrome
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Mixed phenotype acute leukemia with t(v;11q23.3)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Congenital-onset Steinert myotonic dystrophy
Childhood-onset Steinert myotonic dystrophy
Juvenile-onset Steinert myotonic dystrophy
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
GNAO1-related developmental delay-seizures-movement disorder spectrum
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
Neuromyelitis optica spectrum disorder with anti-MOG antibodies
Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
Acute transverse myelitis with anti-MOG antibodies
Acute disseminated encephalomyelitis with anti-MOG antibodies
Acute disseminated encephalomyelitis without anti-MOG antibodies
Localized dystrophic epidermolysis bullosa
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Combined immunodeficiency due to RELA haploinsufficiency
TRIM22-related inflammatory bowel disease
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Euthyroid dysprealbuminemic hyperthyroxinemia
FOXG1 syndrome due to intragenic alteration
Multisystem inflammatory syndrome in children and adults
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Hypomyelination of early myelinating structures
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
Factor V short isoforms-related bleeding disorder
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
Combined deficiency of factor VII and factor X
Non-syndromic anorectal malformation with perineal fistula
Non-syndromic anorectal malformation with rectourethral fistula
Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
Non-syndromic anorectal malformation with rectovesical fistula
Non-syndromic anorectal malformation with vestibular fistula
Non-syndromic anorectal malformation without fistula
Non-syndromic anorectal malformation with anal stenosis
Non-syndromic anorectal malformation with pouch colon
Non-syndromic anorectal malformation with rectal atresia
Non-syndromic anorectal malformation with rectal stenosis
Non-syndromic anorectal malformation with rectovaginal fistula
Non-syndromic anorectal malformation with H-type fistula
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
KLHL7-related Bohring-Opitz-like syndrome
KLHL7-related Crisponi/cold-induced sweating-like syndrome
Symptomatic form of X-linked centronuclear myopathy in female carriers
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Oculogastrointestinal-neurodevelopmental syndrome
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Aplastic anemia-intellectual disability-dwarfism syndrome
Spastic paraparesis-cataracts-speech delay syndrome
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Chronic intervillositis of unknown etiology
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Rare disorder without a determined diagnosis after full investigation
Twin-reversed arterial perfusion sequence
Selective intrauterine growth restriction
Classic eosinophilic pustular folliculitis
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
F12-associated cold autoinflammatory syndrome
Chronic neurovisceral acid sphingomyelinase deficiency
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
SAMD9L-associated autoinflammatory syndrome
Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
Familial hyperinflammatory lymphoproliferative immunodeficiency
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Non-syndromic unicoronal craniosynostosis
Non-syndromic unilambdoid craniosynostosis
Non-syndromic unifrontosphenoidal craniosynostosis
Non-syndromic unisquamosal craniosynostosis
Non-syndromic non-specific multisutural craniosynostosis
Non-syndromic bilambdoid craniosynostosis
Non-syndromic unicoronal and sagittal craniosynostosis
Non-syndromic metopic and sagittal craniosynostosis
Non-syndromic bicoronal and metopic craniosynostosis
Non-syndromic bicoronal and sagittal craniosynostosis
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
EGF-related primary hypomagnesemia with intellectual disability
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
X-linked severe syndromic thoracic aortic aneurysm and dissection
SBDS-related severe neonatal spondylometaphyseal dysplasia
MIR140-related spondyloepiphyseal dysplasia
Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
Paraneoplastic isolated brainstem encephalitis
Non-specific autoimmune brainstem encephalitis with characteristic antibodies
Non-specific autoimmune brainstem encephalitis without characteristic antibodies
Non-specific autoimmune cerebellar ataxia with characteristic antibodies
Non-specific autoimmune cerebellar ataxia without characteristic antibodies
Autosomal dominant spastic paraplegia type 80
Autosomal recessive spastic paraplegia type 82
Autosomal recessive spastic paraplegia type 83
Autosomal recessive spastic paraplegia type 84
Autosomal recessive spastic paraplegia type 85
Autosomal recessive spastic paraplegia type 86
Autosomal recessive spastic paraplegia type 87
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
Intellectual disability-early-onset cataract-microcephaly syndrome
Preaxial digit brachydactyly-webbed fingers
Isolated proximal femoral focal deficiency
Vascular Ehlers-Danlos-polymicrogyria syndrome
Autosomal dominant myosin storage myopathy
Autosomal recessive myosin storage myopathy
SMARCA2-related blepharophimosis-intellectual disability syndrome
Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
B-lymphoblastic leukemia/lymphoma with t(17;19)
EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Fragile X-associated primary ovarian insufficiency
Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Autosomal recessive ataxia due to PEX16 deficiency
Autosomal recessive ataxia due to PEX2 deficiency
Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
Hao-Fountain syndrome due to USP7 mutation
Terminal extramedullary conus spinal cord lipoma
Transitional extramedullary conus spinal cord lipoma
Posterior extramedullary conus spinal cord lipoma
Lipomatous non-saccular limited dorsal myeloschisis
Fibroneural non-saccular limited dorsal myeloschisis
Non-saccular limited dorsal myeloschisis
Intramedullary non-dysraphic spinal cord lipoma
Primary tuberculosis of the digestive system
Intermediate collagen VI-related muscular dystrophy
Dysplastic cortical hyperostosis, Al-Gazali type
CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
Mandibuloacral dysplasia associated to MTX2
Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Isolated primary pigmented nodular adrenocortical disease
Isolated micronodular adrenocortical disease
Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Combined immunodeficiency due to FCHO1 deficiency
Idiopathic pregnancy-associated osteoporosis
Non-syndromic congenital bronchial atresia
Genetic central precocious puberty in female
Secondary central precocious puberty in female
Primary central precocious puberty in male
Secondary central precocious puberty in male
Genetic central precocious puberty in male
Non-genetic central precocious puberty in male
Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
Cleft palate-congenital heart defect-intellectual disability syndrome
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Adult-onset progressive leukoencephalopathy-early-onset deafness
Nodal T-follicular helper cell lymphoma, follicular type
Monomorphic epitheliotropic intestinal T-cell lymphoma
Cone rod dystrophy-short stature syndrome
CHD4-related neurodevelopmental disorder
Autosomal recessive limb-girdle muscular dystrophy, type 28
Congenital insensitivity to pain syndrome, Marsili type
X-linked combined immunodeficiency due to SASH3 deficiency
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
PBX1-related congenital anomalies of kidney and urinary tract syndrome
Intellectual disability-cupped ears syndrome
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Embryonal tumor with multilayered rosettes
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Transplant-related bronchiolitis obliterans
Non-transplant-related bronchiolitis obliterans
COQ7-related distal hereditary motor neuropathy
Greig cephalopolysyndactyly-contiguous gene syndrome
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
Early-onset immune dysregulation due to DOCK11 complete deficiency
Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
MBD4-related tumor predisposition syndrome
Phelan-McDermid syndrome due to 22q13.3 deletion
Phelan-McDermid syndrome due to SHANK3 mutation
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
Congenital muscular dystrophy-cataract-intellectual disability syndrome
Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
Episodic memory defect leukoencephalopathy
Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
Acute megakaryoblastic leukemia in adult
MGP-related spondyloepiphyseal dysplasia
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
Hermansky-Pudlak syndrome due to AP3B1 deficiency
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
EBV-induced lymphoproliferative disease due to PRKCD deficiency
EBV-induced lymphoproliferative disease due to CD137 deficiency
EBV-induced lymphoproliferative disease due to TET2 deficiency
Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
Common arterial trunk with aortic dominance
Common arterial trunk with pulmonary dominance and interrupted aortic arch
Breast implant-associated anaplastic large cell lymphoma
Craniosynostosis-facial dysmorphism-brachydactyly syndrome
Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
Intravascular papillary endothelial hyperplasia
Pilocytic astrocytoma with histological features of anaplasia
Actinomyopathy-associated syndromic thrombocytopenia
Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
Perifoveal exudative vascular anomalous complex
Diffuse unilateral subacute neuroretinitis
Stellate multiform amelanotic choroidopathy
Bilateral diffuse uveal melanocytic proliferation disease
TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Well-differentiated papillary mesothelial tumour of the pleura
Well-differentiated papillary mesothelial tumour of the peritoneum
Combined immunodeficiency due to FOXN1 haploinsufficiency
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency