About: Stickler Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Stickler Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Stickler Syndrome
UMLS_CUI
  • C0265253
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Stickler_Syndrome
FULL_SYN
  • Stickler SyndromePTNCI
  • Stickler SyndromePTNICHD
DEFINITION
  • A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.NCI
code
  • C74984
is rdfs:subClassOf of
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