About: Type III Acrocephalosyndactyly

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About: Type III Acrocephalosyndactyly Goto Sponge NotDistinct 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	Type III Acrocephalosyndactyly
rdfs:subClassOf	Acrocephalosyndactylia
Has_NICHD_Parent	Musculoskeletal Abnormalities
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Type III Acrocephalosyndactyly
UMLS_CUI	C0175699
Contributing_Source	NICHD
Legacy_Concept_Name	Saethre_Chotzen_Syndrome
FULL_SYN	Acrocephalosyndactyly Type IIISYNICHD Saethre-Chotzen SyndromeSYNCI Saethre-Chotzen SyndromePTNICHD Type III AcrocephalosyndactylyPTNCI
DEFINITION	A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.NCI
code	C75034
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0000254

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