OBO ID: DOID:0110092
Term Name: short-rib thoracic dysplasia 6 with or without polydactyly Search Ontology:
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 short-rib thoracic dysplasia 6 with or without polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly 263520
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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