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Echinobase
Summary Literature (0)
DOID:0110094 - short-rib thoracic dysplasia 8 with or without polydactyly


Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

Synonyms: SRPS6, SRTD8, short rib-polydactyly syndrome type VI,

Echinobase Genes :


OMIM:
MIM:615503 - short-rib thoracic dysplasia 8 with or without polydactyly; srtd8

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), autosomal recessive disease (is_a)