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Juberg-Hayward syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008992

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. [ Orphanet:2319 ]

Term info

database cross reference
  • SCTID:721874001 (MONDO:equivalentTo)
  • UMLS:C0796099 (Orphanet:2319)
  • GARD:0003060 (MONDO:equivalentTo)
  • Orphanet:2319 (OMIM:216100)
  • MESH:C537690 (Orphanet:2319/e)
  • OMIM:216100 (Orphanet:2319/e)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
JHS [ GARD:0003060 ]

definition

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.

exactMatch

https://omim.org/entry/216100, http://identifiers.org/mesh/C537690, http://identifiers.org/snomedct/721874001, http://purl.obolibrary.org/obo/Orphanet_2319, http://linkedlifedata.com/resource/umls/id/C0796099

has exact synonym

Juberg-Hayward syndrome, cleft lip/palate-abnormal thumbs-microcephaly syndrome, Orocraniodigital syndrome

has related synonym

JHS, cleft LIP/palate with abnormal thumbs and microcephaly

id

MONDO:0008992

seeAlso

https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome