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About: short-rib thoracic dysplasia 6 with or without polydactyly     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • short-rib thoracic dysplasia 6 with or without polydactyly
described by
id
  • DOID:0110092
database_cross_reference
  • ICD10CM:Q77.2
  • OMIM:263520
has_exact_synonym
  • Majewski syndrome (en)
  • SRPS2A (en)
  • SRTD6 (en)
  • polydactyly with neonatal chondrodystrophy, type II (en)
  • short rib-polydactyly syndrome type IIA (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
is topic of
is annotatedSource of
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