loading...| Preferred Name |
holoprosencephaly |
| Synonyms |
Holoprosencephaly sequence |
| Definitions |
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_4621 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ICD10CM:Q04.2 MESH:D016142 NCI:C74988 SNOMEDCT_US_2022_09_01:30915001 GARD:6665 ORDO:2162 OMIM:PS236100 UMLS_CUI:C0079541 |
| definition |
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| disease has basis in | |
| has exact synonym |
Holoprosencephaly sequence |
| has_obo_namespace |
disease_ontology |
| id |
DOID:4621 |
| in_subset | |
| label |
holoprosencephaly |
| notation |
DOID:4621 |
| prefLabel |
holoprosencephaly |
| subClassOf |