Pallister-Hall Syndrome
Disease ID: disease_node_12001
Connections displayed (default: 10).
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| Dbxref | GARD:7305, MESH:D054975, MIM:146510, NCI:C84987, SNOMEDCT_US_2023_03_01:56677004, UMLS_CUI:C0265220 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Mesh Id | D054975 |
| Mesh Label | Pallister-Hall Syndrome |
| Mesh Subclassof | D000015, D017689, D006222, D007029 |
| Doid Label | Pallister-Hall syndrome |
| Doid Description | A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal domit heterozygous mutation in the GLI3 gene on chromosome 7p14. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_12001 |
| Doid Id | DOID_9248 |
| Label | Pallister-Hall Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)