short-rib thoracic dysplasia 10 with or without polydactyly

Summary

DOID:0110091 - short-rib thoracic dysplasia 10 with or without polydactyly

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.

Synonyms: SRTD10

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

: ift172

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014284 - short-rib thoracic dysplasia 10 with or without polydactyly

MONDO:0014284 - short-rib thoracic dysplasia 10 with or without polydactyly

MIM:

MIM:615630 - SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

MIM:615630 - SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

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)