| Metadata | |
|---|---|
| ID | DOID:12580 |
| Name | Cri-Du-Chat 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. https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome, https://www.genome.gov/Genetic-Disorders/Cri-du-Chat |
| Xrefs |
SNOMEDCT_US_2023_03_01:70173007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
5p deletion syndrome [EXACT] 5p partial monosomy syndrome [EXACT] chromosome 5 short arm deletion syndrome [EXACT] chromosome 5p deletion syndrome [EXACT] |
| Parent Relationships |
is_a chromosomal deletion syndrome is_a syndrome |
| Subclass Logical Relationships |
has material basis in some deletion and has material basis in some chromosome |