Version: 8.0.0
Date: Tue Jan 28 2025
short-rib thoracic dysplasia 6 with or without polydactyly
DOID:0110092
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • Majewski syndrome
  • polydactyly with neonatal chondrodystrophy, type II
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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