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DO Term : Martsolf syndrome [DOID:0111586] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:722380003,
  • MESH:C536028,
  • GARD:3406,
  • cataract-intellectual disability-hypogonadism syndrome,
  • ORDO:1387,
  • 212720,
  • UMLS_CUI:C0796037,
  • OMIM:212720
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents