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Weaver syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010193

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. [ Orphanet:3447 ]

Synonyms: camptodactyly-overgrowth-unusual facies syndrome Weaver syndrome WEAVER-like syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:277590 (Orphanet:3447/e)
  • Orphanet:3447 (OMIM:277590)
  • DOID:14731 (MONDO:equivalentTo)
  • NORD:1839 (MONDO:NORD)
  • SCTID:63119004 (MONDO:equivalentTo)
  • GTR:AN0102079
  • UMLS:C0265210 (Orphanet:3447/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • NCIT:C125599 (MONDO:equivalentTo)
  • GTR:AN0102080
  • GARD:7878 (Orphanet:3447)
  • MESH:C536687 (Orphanet:3447/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://www.orpha.net/ORDO/Orphanet_3447

http://identifiers.org/mesh/C536687

http://purl.obolibrary.org/obo/NCIT_C125599

https://omim.org/entry/277590

http://linkedlifedata.com/resource/umls/id/C0265210

http://identifiers.org/snomedct/63119004

http://purl.obolibrary.org/obo/DOID_14731

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

EZH2 related overgrowth

intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate

WVS

WEAVER syndrome

Weaver like syndrome

Weaver Williams syndrome

camptodactyly - overgrowth - unusual facies

overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

Weaver-like syndrome

Weaver-Smith syndrome

mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate

Weaver Smith syndrome

id

MONDO:0010193

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010193