Search Ontology:
Human Disease

short-rib thoracic dysplasia 6 with or without polydactyly

Term ID
DOID:0110092
Synonyms
  • Majewski syndrome
  • polydactyly with neonatal chondrodystrophy, type II
  • short rib-polydactyly syndrome type IIA
  • SRPS2A
  • SRTD6
Definition
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (2)
References
Ontology
Human Disease   ( DOID:0110092 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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