| Metadata | |
|---|---|
| ID | DOID:0111586 |
| Name | Martsolf 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. https://ghr.nlm.nih.gov/condition/rab18-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/16532399, https://www.ncbi.nlm.nih.gov/pubmed/677168 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722380003 |
| Subsets |
DO_rare_slim |
| Synonyms |
cataract-intellectual disability-hypogonadism syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |