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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Cri-Du-Chat syndrome
Summary
- Synonym
-
- 5p deletion syndrome
- 5p partial monosomy syndrome
- chromosome 5 short arm deletion syndrome
- chromosome 5p deletion syndrome
- Definition
- A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
- Super Class
- chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:12580
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01638 | Interleukin-1 receptor-like 1 |
