Holoprosencephaly
Disease ID: disease_node_8636
Connections displayed (default: 10).
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| Dbxref | GARD:6665, ICD10CM:Q04.2, MESH:D016142, MIM:PS236100, NCI:C74988, ORDO:2162, SNOMEDCT_US_2023_03_01:30915001, UMLS_CUI:C0079541 |
|---|---|
| Subclassof | DOID_225, DOID_2490 |
| Data Source | DOID, MESH |
| Synonyms | Holoprosencephaly sequence |
| Mesh Id | D016142 |
| Mesh Label | Holoprosencephaly |
| Mesh Subclassof | D000015, D061085, D025063, D019465 |
| Doid Label | holoprosencephaly |
| Doid Description | 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]. |
| Disease Node Id | disease_node_8636 |
| Doid Id | DOID_4621 |
| Disease Has Basis In | SYMP_0000462 |
| Label | Holoprosencephaly |
- Incoming r'ship
SUBCLASS_OFto/from Holoprosencephaly 11(ID:disease_node_13584) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Holoprosencephaly 12(ID:disease_node_13585) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Holoprosencephaly 13, X-Linked(ID:disease_node_13586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Nervous System Abnormality(ID:disease_node_13582) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Holoprosencephaly 1(ID:disease_node_13583) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Chromosome 1Q41-Q42 Deletion Syndrome(ID:disease_node_17025) (Disease)