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 ]
This is just here as a test because I lose it
Term information
database
cross reference
- ICD10CM:Q04.2 (Orphanet:2162/specific)
- SCTID:30915001 (MONDO:equivalentTo)
- UMLS:C0079541 (Orphanet:2162/e)
- MedDRA:10056304 (Orphanet:2162/e)
- GARD:0006665 (MONDO:equivalentTo)
- DOID:4621 (MONDO:equivalentTo)
- MESH:D016142 (Orphanet:2162/e)
- NCIT:C74988 (MONDO:equivalentTo)
- OMIMPS:236100 (MONDO:equivalentTo)
- Orphanet:2162 (MONDO:equivalentTo)
Subsets
gard_rare, ordo_malformation_syndrome
abbreviation
HPE
[
Orphanet
:
2162
]
closeMatch
- http://identifiers.org/meddra/10056304
definition
- 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.
exactMatch
- http://purl.obolibrary.org/obo/DOID_4621
- http://identifiers.org/mesh/D016142
- http://purl.bioontology.org/ontology/ICD10CM/Q04.2
- http://linkedlifedata.com/resource/umls/id/C0079541
- http://purl.obolibrary.org/obo/NCIT_C74988
- http://www.orpha.net/ORDO/Orphanet_2162
- https://omim.org/phenotypicSeries/PS236100
- http://identifiers.org/snomedct/30915001
has exact synonym
- holoprosencephaly sequence
- HPE
id
- MONDO:0016296
seeAlso
- https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly
should conform to
- http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml