Wolf-Hirschhorn syndrome
Information
- Disease name
- Wolf-Hirschhorn syndrome
- Disease ID
- DOID:0050460
- Description
- "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3." [url:https\://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 |
- Disase is a (Disease Ontology)
- DOID:0060388
- Cross Reference ID (Disease Ontology)
- GARD:7896
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q93.3
- Cross Reference ID (Disease Ontology)
- MESH:D054877
- Cross Reference ID (Disease Ontology)
- MIM:194190
- Cross Reference ID (Disease Ontology)
- NCI:C35528
- Cross Reference ID (Disease Ontology)
- ORDO:280
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:17122004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0796117
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1956097
- Exact Synonym (Disease Ontology)
- 4p deletion syndrome
- Exact Synonym (Disease Ontology)
- chromosome 4p16.3 deletion syndrome
- Exact Synonym (Disease Ontology)
- PITT SYNDROME
- Exact Synonym (Disease Ontology)
- Pitt-Rogers-Danks Syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 280
- MeSH unique ID (MeSH (Medical Subject Headings))
- D054877