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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Wolf-Hirschhorn syndrome
Summary
- Synonym
-
- 4p deletion syndrome
- PITT SYNDROME
- Pitt-Rogers-Danks Syndrome
- chromosome 4p16.3 deletion syndrome
- Definition
- 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.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0050460
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01638 | Interleukin-1 receptor-like 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000431 | Wide nasal bridge |
| HP:0000485 | Megalocornea |
| HP:0000486 | Strabismus |
| HP:0000488 | Retinopathy |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000508 | Ptosis |
| HP:0000520 | Proptosis |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| HP:0000647 | Sclerocornea |
