Holoprosencephaly 12
Disease ID: disease_node_13585
Connections displayed (default: 10).
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| Dbxref | MIM:618500 |
|---|---|
| Subclassof | DOID_0050736, DOID_4621 |
| Data Source | DOID |
| Synonyms | holoprosencephaly-12 with or without pancreatic agenesis |
| Doid Label | holoprosencephaly 12 |
| Doid Description | A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. |
| Existence Starts During | HP_0003577 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13585 |
| Doid Id | DOID_0081398 |
| Label | Holoprosencephaly 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Holoprosencephaly(ID:disease_node_8636) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)