Combined Or Isolated Pituitary Hormone Deficiency 1
Disease ID: disease_node_19692
Connections displayed (default: 10).
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| Dbxref | MIM:613038 |
|---|---|
| Subclassof | DOID_0050736, DOID_9410, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CPHD1 |
| Doid Label | combined or isolated pituitary hormone deficiency 1 |
| Doid Description | A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_19692 |
| Doid Id | DOID_0061019 |
| Label | Combined Or Isolated Pituitary Hormone Deficiency 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)