FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term short-rib thoracic dysplasia 6 with or without polydactyly ID (Ontology) DOID:0110092 (Human Disease)
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
Also Known As "Majewski syndrome" ; "polydactyly with neonatal chondrodystrophy, type II" ; "short rib-polydactyly syndrome type IIA" (for all, see Synonyms field below)
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 Genes
 short-rib thoracic dysplasia 6 with or without polydactyly       1
 for disease ribbon | short-rib thoracic dysplasia 6 with or without polydactyly       1
 model of | short-rib thoracic dysplasia 6 with or without polydactyly       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
bone development disease             |
 |__asphyxiating thoracic dystrophy__|
                                     short-rib thoracic dysplasia 6 with or without polydactyly  1 rec.
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Is a asphyxiating thoracic dystrophy
autosomal recessive disease
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Synonyms
  • "Majewski syndrome" EXACT
    "polydactyly with neonatal chondrodystrophy, type II" EXACT
    "short rib-polydactyly syndrome type IIA" EXACT
    "SRPS2A" EXACT OMO:0003012
    "SRTD6" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q77.2
MIM:263520