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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Cri-du-chat syndrome | |
| Synonyms |
monosomy 5p chromosome 5P deletion syndrome Cat Cry syndrome 5p- syndrome 5p minus syndrome chromosome 5p- syndrome 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 |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007404 |
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| altLabel |
monosomy 5p chromosome 5P deletion syndrome Cat Cry syndrome 5p- syndrome 5p minus syndrome chromosome 5p- syndrome 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
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|
| 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.
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| 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
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| has_related_synonym |
monosomy 5p chromosome 5P deletion syndrome Cat Cry syndrome 5p- syndrome 5p minus syndrome chromosome 5p- syndrome
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|
| label |
Cri-du-chat syndrome
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| prefixIRI |
MONDO:0007404
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| prefLabel |
Cri-du-chat syndrome
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| 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.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016887 |
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