JSON

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007401

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. [ Orphanet:1538 ]

Synonyms: craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Braddock-Jones-Superneau syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:720813007 (MONDO:equivalentTo)
  • GARD:998 (MONDO:GARD)
  • MESH:C563973 (MONDO:equivalentTo)
  • MEDGEN:325006 (MONDO:equivalentTo)
  • UMLS:C1838347 (MONDO:equivalentTo)
  • Orphanet:1538 (OMIM:123155)
  • OMIM:123155 (Orphanet:1538/e)
Subsets

ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

abbreviation
HDCPH1 [ https://omim.org/entry/123155 MONDO:Lexical ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_1538

https://omim.org/entry/123155

http://linkedlifedata.com/resource/umls/id/C1838347

http://identifiers.org/snomedct/720813007

http://identifiers.org/mesh/C563973

http://identifiers.org/medgen/325006

has related synonym

Braddock Jones Superneau syndrome

Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus

HDCPH1

hydrocephalus, autosomal dominant

sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus

id

MONDO:0007401

seeAlso

https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus