Search Ontology:
Human Disease
Martsolf syndrome
- Term ID
- DOID:0111586
- Synonyms
-
- cataract-intellectual disability-hypogonadism syndrome
- Definition
- A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. (3)
- References
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- GARD:3406
- MESH:C536028
- MIM:212720
- ORDO:1387
- SNOMEDCT_US_2023_03_01:722380003
- UMLS_CUI:C0796037
- Ontology
- Human Disease ( DOID:0111586 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models