About   Help   FAQ
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory