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Weaver syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Weaver syndrome
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Accession:EFO:MONDO:0010193 term browser browse the term
Definition:Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
Synonyms:exact_synonym: DOID:14731;   NCIT:C125599;   Orphanet:3447;   camptodactyly-overgrowth-unusual facies syndrome;   http://identifiers.org/medgen/120511;   http://identifiers.org/mesh/C536687;   http://identifiers.org/snomedct/63119004;   http://linkedlifedata.com/resource/umls/id/C0265210;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2042913723;   https://omim.org/entry/277590
 related_synonym: EZH2 related overgrowth;   WVS;   Weaver Smith syndrome;   Weaver Williams syndrome;   Weaver like syndrome;   camptodactyly - overgrowth - unusual facies;   intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate;   mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate;   overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
 alt_id: MONDO:0010193
 xref: DOID:14731;   GARD:7878;   GTR:AN0102079;   GTR:AN0102080;   ICD9:759.89;   MEDGEN:120511;   MESH:C536687;   MIM:277590;   NANDO:1200659;   NANDO:2200957;   NCI:C125599;   NORD:1839;   ORDO:3447;   SCTID:63119004;   UMLS:C0265210;   icd11.foundation:2042913723

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                  Weaver syndrome 0
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