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ZIRC
OBO ID: DOID:0060288
Term Name: omodysplasia Search Ontology:
Synonyms:
Definition: An osteochondrodysplasia that is characterized by severe congenital shortening and distal tapering of the humeri and femori as well as cryptorchidism, congential heart defects, cognitive delay and dysmorphic facies, has_material_basis_in autosomal recessive inheritance of mutation in the GPC6 gene.https://www.omim.org/entry/258315
References:
Ontology: Human Disease   (DOID:0060288)
OTHER omodysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FZD2 Omodysplasia 2 164745
GPC6 Omodysplasia 1 258315
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None