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 |