short-rib thoracic dysplasia 13 with or without polydactyly

Summary

DOID:0110093 - short-rib thoracic dysplasia 13 with or without polydactyly

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.

Synonyms: SRTD13

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cep120

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014577 - short-rib thoracic dysplasia 13 with or without polydactyly

MONDO:0014577 - short-rib thoracic dysplasia 13 with or without polydactyly

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): asphyxiating thoracic dystrophy (is_a), autosomal recessive disease (is_a)