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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,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0009894 - short-rib thoracic dysplasia 6 with or without polydactyly |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee