About: Cleidocranial Dysplasia

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About: Cleidocranial Dysplasia Goto Sponge Distinct Permalink

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

Attributes	Values
rdf:type	Class
rdfs:label	Cleidocranial Dysplasia
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Semantic_Type	Disease or Syndrome
Preferred_Name	Cleidocranial Dysplasia
UMLS_CUI	C0008928
Legacy_Concept_Name	Cleidocranial_Dysplasia
FULL_SYN	Cleidocranial DysplasiaPTNCI Cleidocranial DysostosisSYNCI
DEFINITION	A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.NCI
code	C75020
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0004550
is someValuesFrom of	nodeID://b707338 nodeID://b709489
is sameAs of	Cleidocranial Dysplasia

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