Pallister-Hall syndrome
Information
- Disease name
- Pallister-Hall syndrome
- Disease ID
- DOID:9248
- Description
- "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." [url:https\://pubmed.ncbi.nlm.nih.gov/31011455/, url:https\://pubmed.ncbi.nlm.nih.gov/8914745/, url:https\://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:7305
- Cross Reference ID (Disease Ontology)
- MESH:D054975
- Cross Reference ID (Disease Ontology)
- MIM:146510
- Cross Reference ID (Disease Ontology)
- NCI:C84987
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:56677004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265220
- OrphaNumber from OrphaNet (Orphanet)
- 672
- MeSH unique ID (MeSH (Medical Subject Headings))
- D054975