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Diseases
All 35 rare diseases in the v1 corpus, with real MONDO/Orphanet identifiers resolved programmatically (never hand-typed) and their rarity stratum.
Rarity stratum is a reproducible corpus-coverage proxy, not a claim about true biological prevalence: diseases are split into terciles (high / medium / sparse) by document count in the frozen corpus (832 documents total, capped around 24 per disease). The “Total PubMed records” column below is a different number — the full unfiltered PubMed hit count for that disease’s query, shown for context only; it is not the number of documents actually included in this project’s frozen corpus.
| MONDO ID | Synonyms | |||
|---|---|---|---|---|
| cystic fibrosis | MONDO:0009061 | high | 49,224 | CF, cystic fibrosis, cystic fibrosis lung disease, modifier of +3 more |
| Duchenne muscular dystrophy | MONDO:0010679 | high | 12,205 | DMD, Duchenne muscular dystrophy, Duchenne muscular dystrophy, X-linked recessive +2 more |
| Huntington disease | MONDO:0007739 | high | 20,357 | HD, Huntington chorea, Huntington disease +3 more |
| Marfan syndrome | MONDO:0007947 | high | 6,339 | Marfan syndrome, Marfan syndrome type 1, Marfan syndrome, type 1 +3 more |
| Fabry disease | MONDO:0010526 | high | 4,279 | Alpha-galactosidase A deficiency, Anderson-Fabry disease, angiokeratoma corporis diffusum +6 more |
| Wilson disease | MONDO:0010200 | high | 5,905 | hepatolenticular degeneration, WD, Westphal-Strumpell syndrome +2 more |
| spinal muscular atrophy | MONDO:0001516 | high | 7,513 | |
| osteogenesis imperfecta | MONDO:0019019 | high | 5,046 | brittle bone disease, glass bone disease, Lobstein disease +4 more |
| neurofibromatosis type 1 | MONDO:0018975 | high | 15,627 | neurofibromatosis, Neurofibromatosis 1, neurofibromatosis 1 +10 more |
| Rett syndrome | MONDO:0010726 | high | 4,189 | Rett syndrome, Rett syndrome, atypical, X-linked dominant, Rett syndrome, preserved speech variant, X-linked dominant +4 more |
| ataxia telangiectasia | MONDO:0008840 | high | 7,617 | AT, AT1, ataxia - telangiectasia +5 more |
| Ehlers-Danlos syndrome | MONDO:0020066 | medium | 3,793 | Danlos disease, Danlos Disease, Ehlers, danlos ehlers syndrome +17 more |
| Gaucher disease | MONDO:0018150 | medium | 3,687 | acid beta-glucosidase deficiency, acute cerebral Gaucher disease, Gaucher disease +8 more |
| Niemann-Pick disease | MONDO:0001982 | medium | 1,965 | lipoid histiocytosis (classical phosphatide), Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form +2 more |
| alpha 1-antitrypsin deficiency | MONDO:0013282 | medium | 3,027 | A-1ATD, A1AD, A1AT deficiency +11 more |
| neuronal ceroid lipofuscinosis | MONDO:0016295 | medium | 2,325 | ceroid lipofuscinoses, NCL, neuronal ceroid lipofuscinosis |
| Angelman syndrome | MONDO:0007113 | medium | 1,891 | Angelman syndrome, Angelman syndrome (Type 1), Angelman syndrome (Type 2) +4 more |
| Prader-Willi syndrome | MONDO:0008300 | medium | 3,702 | obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet, Prader-Labhart-Willi syndrome +4 more |
| Charcot-Marie-Tooth disease | MONDO:0015626 | medium | 3,893 | Charcot Marie Tooth disease, Charcot Marie Tooth muscular atrophy, Charcot-Marie-Tooth disease +6 more |
| Friedreich ataxia | MONDO:0100339 | medium | 3,170 | FA, FRDA, Friedreich ataxia +5 more |
| metachromatic leukodystrophy | MONDO:0018868 | medium | 1,129 | arylsulfatase A deficiency, MLD |
| xeroderma pigmentosum | MONDO:0019600 | medium | 4,122 | angioma pigmentosum atrophicum, atrophoderma pigmentosum, Kaposi dermatosis +7 more |
| cystinosis | MONDO:0016239 | medium | 1,181 | cystine diathesis, cystine disease, cystine storage disease +3 more |
| glycogen storage disease II | MONDO:0009290 | sparse | 296 | acid maltase deficiency, acid maltase deficiency disease, Aglucosidase alfa +20 more |
| Hutchinson-Gilford progeria syndrome | MONDO:0008310 | sparse | 1,037 | HGPS, Hutchinson Gilford progeria syndrome, Hutchinson-Gilford disease +4 more |
| fibrodysplasia ossificans progressiva | MONDO:0007606 | sparse | 890 | fibrodysplasia ossificans progressiva, FOP, fop +3 more |
| alkaptonuria | MONDO:0008753 | sparse | 807 | aku, alcaptonuria, alkaptonuria +6 more |
| maple syrup urine disease | MONDO:0009563 | sparse | 1,096 | BCKD deficiency, BCKDH deficiency, branched chain ketoaciduria +8 more |
| Tay-Sachs disease | MONDO:0010100 | sparse | 870 | B variant GM2 gangliosidosis, disease, Tay-Sachs, gangliosidosis GM2, type 1 +10 more |
| Cockayne syndrome | MONDO:0016006 | sparse | 1,119 | dwarfism-retinal atrophy-deafness syndrome, progeria-like syndrome, progeroid nanism |
| Alexander disease | MONDO:0008752 | sparse | 444 | Alexander disease, alexanders leukodystrophy, ALXDRD +2 more |
| Cri-du-chat syndrome | MONDO:0007404 | sparse | 382 | 5p deletion syndrome, 5p minus syndrome, 5p partial monosomy syndrome +9 more |
| Menkes disease | MONDO:0010651 | sparse | 925 | copper transport disease, kinky hair disease, kinky hair syndrome +12 more |
| Zellweger spectrum disorders | MONDO:0019609 | sparse | 829 | cerebrohepatorenal syndrome, Zellweger leukodystrophy, Zellweger spectrum disorders +3 more |
| Krabbe disease | MONDO:0009499 | sparse | 744 | diffuse globoid body sclerosis, galactocerebrosidase deficiency, galactosylceramidase deficiency +12 more |
Showing 35 of 35 diseases.