header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0060766
Term Name: autosomal dominant Robinow syndrome 1 Search Ontology:
Synonyms:
  • DRS1
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (2)
References:
Ontology: Human Disease   (DOID:0060766)
OTHER autosomal dominant Robinow syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WNT5A Robinow syndrome, autosomal dominant 1 180700
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None