FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Martsolf syndrome ID (Ontology) DOID:0111586 (Human Disease)
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.
Also Known As "cataract-intellectual disability-hypogonadism syndrome"
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 Genes
 Martsolf syndrome       1
 for disease ribbon | Martsolf syndrome       1
 model of | Martsolf syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Martsolf syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "cataract-intellectual disability-hypogonadism syndrome" EXACT
Secondary IDs
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GARD:3406
MESH:C536028
MIM:212720
ORDO:1387
SNOMEDCT_US_2023_03_01:722380003
UMLS_CUI:C0796037