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holoprosencephaly

Go to external page http://purl.obolibrary.org/obo/MONDO_0016296

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. [ Orphanet:2162 ]

Synonyms: holoprosencephaly sequence HPE

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:Q04.2 (Orphanet:2162/specific)
  • DOID:4621 (MONDO:equivalentTo)
  • OMIMPS:236100 (https://orcid.org/0000-0002-6601-2165)
  • GARD:6665 (MONDO:GARD)
  • UMLS:C0079541 (MONDO:equivalentTo)
  • Orphanet:2162 (MONDO:equivalentTo)
  • MedDRA:10056304 (Orphanet:2162/e)
  • icd11.foundation:1712699129 (Orphanet:2162)
  • NCIT:C74988 (MONDO:equivalentTo)
  • SCTID:30915001 (MONDO:equivalentTo)
  • NANDO:2200819 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:38214 (MONDO:equivalentTo)
  • MESH:D016142 (Orphanet:2162/e)
  • NORD:1247 (MONDO:NORD)
Subsets

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

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10056304

exactMatch

http://www.orpha.net/ORDO/Orphanet_2162

http://purl.bioontology.org/ontology/ICD10CM/Q04.2

http://identifiers.org/snomedct/30915001

http://identifiers.org/medgen/38214

http://purl.obolibrary.org/obo/NCIT_C74988

http://purl.obolibrary.org/obo/DOID_4621

http://identifiers.org/mesh/D016142

http://linkedlifedata.com/resource/umls/id/C0079541

https://omim.org/phenotypicSeries/PS236100

excluded subClassOf

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

id

MONDO:0016296

seeAlso

https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly