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Echinobase
Summary Literature (0)
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, SRPS2A, SRTD6, polydactyly with neonatal chondrodystrophy, type II, short rib-polydactyly syndrome type IIA,

Echinobase Genes : nek1


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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): asphyxiating thoracic dystrophy (is_a)