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Disease Ontology Browser
Martsolf syndrome (DOID:0111586)
Alliance: disease page
Synonyms: cataract-intellectual disability-hypogonadism syndrome
Alt IDs: OMIM:212720, MESH:C536028, ORDO:1387, UMLS_CUI:C0796037
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory