Link to this page
Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
Jump to:
| Preferred Name | Cri du Chat Syndrome | |
| Synonyms |
|
|
| Definitions |
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C34518 |
|
| code |
C34518
|
|
| Contributing_Source |
Cellosaurus NICHD
|
|
| definition |
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.
|
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
| label |
Cri du Chat Syndrome
|
|
| Legacy Concept Name |
Cri_du_Chat_Syndrome
|
|
| Preferred_Name |
Cri du Chat Syndrome
|
|
| prefixIRI |
NCIT:C34518
|
|
| prefLabel |
Cri du Chat Syndrome
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0010314
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping