Visualize Submit Comment
Metadata
ID DOID:0110092
Name short-rib thoracic dysplasia 6 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
https://www.ncbi.nlm.nih.gov/pubmed/21211617, https://www.ncbi.nlm.nih.gov/pubmed/22499340
Xrefs

ICD10CM:Q77.2

OMIM:263520

Synonyms

Majewski syndrome [EXACT]

polydactyly with neonatal chondrodystrophy, type II [EXACT]

short rib-polydactyly syndrome type IIA [EXACT]

SRPS2A [EXACT]

SRTD6 [EXACT]

Parent Relationships

is_a asphyxiating thoracic dystrophy

Add an item to the term tracker