short-rib thoracic dysplasia 6 with or without polydactyly

Summary

DOID:0110092 - short-rib thoracic dysplasia 6 with or without polydactyly

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.

Synonyms: Majewski syndrome, polydactyly with neonatal chondrodystrophy, type II, short rib-polydactyly syndrome type IIA, SRPS2A, SRTD6

Echinobase 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

: nek1

MIM:

MIM:263520 - short-rib thoracic dysplasia 6 with or without polydactyly; srtd6

MIM:263520 - short-rib thoracic dysplasia 6 with or without polydactyly; srtd6

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)