Preferred Name |
Cri-du-chat syndrome |
|
Synonyms |
monosomy type 5p 5p deletion syndrome deletion 5p Cri-du-chat syndrome 5p partial monosomy syndrome chromosome 5p deletion syndrome chromosome 5 short arm deletion syndrome Cat-Cry syndrome Cri du chat syndrome monosomy 5p chromosome 5P deletion syndrome Cat Cry syndrome 5p- syndrome 5p minus syndrome chromosome 5p- syndrome |
|
Definitions |
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0007404 |
|
has_exact_synonym |
monosomy type 5p 5p deletion syndrome deletion 5p Cri-du-chat syndrome 5p partial monosomy syndrome chromosome 5p deletion syndrome chromosome 5 short arm deletion syndrome Cat-Cry syndrome Cri du chat syndrome |
|
has_related_synonym |
monosomy 5p chromosome 5P deletion syndrome Cat Cry syndrome 5p- syndrome 5p minus syndrome chromosome 5p- syndrome |
|
label |
Cri-du-chat syndrome |
|
prefixIRI |
MONDO:0007404 |
|
prefLabel |
Cri-du-chat syndrome |
|
textual definition |
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016887 |