Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage. [ Orphanet:280200 ]
Synonyms: HPE-L holoprosencephaly-like Holoprosencéphalie, minor form HPE, minor form Microform HPE HoloprosencC)phalie, minor form
Term information
- ICD10CM:Q04.2 (Orphanet:280200/ntbt)
- MEDGEN:1711978 (MONDO:equivalentTo)
- GARD:17290 (MONDO:GARD)
- DOID:0111380 (MONDO:equivalentTo)
- Orphanet:280200 (MONDO:equivalentTo)
- UMLS:C5393309 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/6876
https://github.com/monarch-initiative/mondo/issues/6752
http://www.orpha.net/ORDO/Orphanet_280200
http://purl.obolibrary.org/obo/DOID_0111380
http://linkedlifedata.com/resource/umls/id/C5393309
http://identifiers.org/medgen/1711978