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Metadata
ID	DOID:0060766
Name	autosomal dominant Robinow syndrome 1
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. https://www.ncbi.nlm.nih.gov/pubmed/19918918, https://www.ncbi.nlm.nih.gov/pubmed/24716670
Xrefs	MIM:180700 ORDO:3107
Subsets	DO_rare_slim
Synonyms	DRS1 [EXACT]
Parent Relationships	is_a Robinow syndrome is_a autosomal dominant disease