The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. [ NCIT : C75476 ]
This is just here as a test because I lose it
Term information
database
cross reference
- DOID:0110881 (MONDO:equivalentTo)
- NCIT:C75476 (MONDO:equivalentTo)
- Orphanet:268936 (MONDO:equivalentTo)
- OMIM:236100 (MONDO:equivalentTo)
Subsets
ordo_morphological_anomaly
definition
- The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.
exactMatch
- http://purl.obolibrary.org/obo/DOID_0110881
- https://omim.org/entry/236100
- http://www.orpha.net/ORDO/Orphanet_268936
- http://purl.obolibrary.org/obo/NCIT_C75476
has broad synonym
- Hpe, familial
- cyclopia
has exact synonym
- holoprosencephaly type 1
- HPE1
- holoprosencephaly 1, isolated cases
- holoprosencephaly 1
has related synonym
- arhinencephaly
- isolated arhinencephaly
- Demyer sequence
- holoprosencephaly, familial Alobar
id
- MONDO:0009349
term tracker item
- https://github.com/monarch-initiative/mondo/issues/4521
Term relations
Subclass of: