Pitt-Hopkins syndrome
Information
- Disease name
- Pitt-Hopkins syndrome
- Disease ID
- DOID:0060488
- Description
- "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21." [url:http\://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, url:https\://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/17436255, url:https\://www.ncbi.nlm.nih.gov/pubmed/26621827, url:https\://www.ncbi.nlm.nih.gov/pubmed/728011]
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:4372
- Cross Reference ID (Disease Ontology)
- MESH:C537403
- Cross Reference ID (Disease Ontology)
- MIM:610954
- Cross Reference ID (Disease Ontology)
- NCI:C129872
- Cross Reference ID (Disease Ontology)
- ORDO:2896
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:702344008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1970431
- OrphaNumber from OrphaNet (Orphanet)
- 2896
- MedGen concept unique identifier (MedGen Concept name)
- C1970431
- MedGen unique identifier (MedGen Concept name)
- 370910