Diseases

Name Orphanumber Description XREF(s)
Semantic dementia 100069 Semantic dementia (SD) is a form of… Orphanet, ICD-10, OMIM, OMIM
Progressive non-fluent aphasia 100070 Progressive non-fluent aphasia (PNFA)… Orphanet, MedDRA, ICD-10, MeSH, OMIM, OMIM, OMIM
Neuroendocrine tumor of stomach 100075 A rare subtype of neuroendocrine… Orphanet, ICD-10
Carcinoid syndrome 100093 A rare neoplastic disease characterized… Orphanet, ICD-10
2q37 microdeletion syndrome 1001 A rare chromosomal anomaly involving… Orphanet, MeSH, OMIM, ICD-10
Porphyria due to ALA dehydratase deficiency 100924 A rare malignant small round cell bone… Orphanet, ICD-10, OMIM
FRAXE intellectual disability 100973 A rare X-linked syndromic intellectual… Orphanet, OMIM, ICD-10
FRAXF syndrome 100974 FRAXF syndrome was originally… Orphanet
Bathing suit ichthyosis 100976 Bathing suit ichthyosis (BSI) is a rare… Orphanet, OMIM, ICD-10
Autosomal dominant spastic paraplegia type 3 100984 A rare, pure or complex form of… Orphanet, ICD-10, MeSH, OMIM
Autosomal dominant spastic paraplegia type 4 100985 A rare form of hereditary spastic… Orphanet, MeSH, OMIM, ICD-10
Autosomal recessive spastic paraplegia type 5A 100986 Autosomal recessive spastic paraplegia… Orphanet, OMIM, MeSH, ICD-10
Autosomal dominant spastic paraplegia type 6 100988 A rare, pure or complex form of… Orphanet, OMIM, MeSH, ICD-10
Autosomal dominant spastic paraplegia type 8 100989 A rare, pure or complex form of… Orphanet, OMIM, MeSH, ICD-10
Autosomal dominant spastic paraplegia type 10 100991 A rare, hereditary spastic paraplegia… Orphanet, OMIM, MeSH, ICD-10
Autosomal dominant spastic paraplegia type 12 100993 A pure form of hereditary spastic… Orphanet, OMIM, MeSH, ICD-10
Autosomal dominant spastic paraplegia type 13 100994 A rare, pure or complex form of… Orphanet, OMIM, MeSH, ICD-10
Autosomal recessive spastic paraplegia type 14 100995 Autosomal recessive spastic paraplegia… Orphanet, OMIM, MeSH, ICD-10
Autosomal recessive spastic paraplegia type 15 100996 Autosomal recessive spastic paraplegia… Orphanet, OMIM, MeSH, ICD-10
X-linked spastic paraplegia type 16 100997 A complex, hereditary, spastic… Orphanet, OMIM, MeSH, ICD-10