MyHealth@Eu Patient Summary
1.0.0-ci-build - ci-build 150

MyHealth@Eu Patient Summary - Local Development build (v1.0.0-ci-build) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

## ValueSet: eHDSI Rare Disease

Official URL: http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease | Version: 1.0.0-ci-build
Standards status: Draft | Maturity Level: 1 | Computable Name: EHDSIRareDisease
Other Identifiers: OID:1.3.6.1.4.1.12559.11.10.1.3.1.42.63

The Value Set is used to describe the problems and medication reasons.

References

- Included into EHDSIAdmissionReasonWithExceptions
- Included into EHDSIMedicationReasonWithExceptions
- Included into EHDSIProblemWithExceptions

### Logical Definition (CLD)

- 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

### Expansion

No Expansion for this valueset (Unknown Code System )

Explanation of the columns that may appear on this page:

Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System | The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code | The code (used as the code in the resource instance)
Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition | An explanation of the meaning of the concept
Comments | Additional notes about how to use the code