Cri-Du-Chat syndrome
Information
- Disease name
- Cri-Du-Chat syndrome
- Disease ID
- DOID:12580
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Cri-du-Chat]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02381457 | Completed | SNP-based Microdeletion and Aneuploidy RegisTry (SMART) | April 2015 | June 2020 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6213
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q93.4
- Cross Reference ID (Disease Ontology)
- ICD9CM:758.31
- Cross Reference ID (Disease Ontology)
- MESH:D003410
- Cross Reference ID (Disease Ontology)
- MIM:123450
- Cross Reference ID (Disease Ontology)
- NCI:C34518
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:70173007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0010314
- Exact Synonym (Disease Ontology)
- 5p deletion syndrome
- Exact Synonym (Disease Ontology)
- 5p partial monosomy syndrome
- Exact Synonym (Disease Ontology)
- chromosome 5 short arm deletion syndrome
- Exact Synonym (Disease Ontology)
- chromosome 5p deletion syndrome
- MeSH unique ID (MeSH (Medical Subject Headings))
- D003410