ZFIN Human Disease: autosomal recessive Robinow syndrome

OBO ID: DOID:0060764

Term Name:	autosomal recessive Robinow syndrome		Search Ontology:
Synonyms:	costovertebral segmentation defect-mesomelia syndrome COVESDEM syndrome RRS
Definition:	A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (2)
References:	OMIM:268310 ORDO:1507
Ontology:	Human Disease ( DOID:0060764 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ROR2	ror2	Robinow syndrome, autosomal recessive	268310

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None