ZFIN Human Disease: Martsolf syndrome

OBO ID: DOID:0111586

Term Name:	Martsolf syndrome		Search Ontology:
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:	GARD:3406 MESH:C536028 OMIM:212720 ORDO:1387 SNOMEDCT_US_2023_03_01:722380003 UMLS_CUI:C0796037
Ontology:	Human Disease ( DOID:0111586 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Martsolf syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RAB3GAP2	rab3gap2	Martsolf syndrome 1	212720

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None