loading...| Preferred Name | Smith-Magenis syndrome | |
| Synonyms |
Smith–Magenis syndrome |
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| Definitions |
A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. |
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| ID |
http://purl.obolibrary.org/obo/GSSO_006996 |
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| definition |
A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. |
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| Disease Ontology ID | ||
| has database cross reference |
https://www.wikidata.org/wiki/Q2295338 https://en.wikipedia.org/wiki/Smith%E2%80%93Magenis_syndrome |
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| has exact synonym |
Smith–Magenis syndrome |
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| has synonym |
chromosome 17p11.2 deletion syndrome 17p11.2 microdeletion syndrome |
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| label |
Smith-Magenis syndrome |
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| Medical Dictionary for Regulatory Activities ID | ||
| MeSH Descriptor ID | ||
| name |
SMS |
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| NCI Thesaurus ID | ||
| prefixIRI |
GSSO:006996 |
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| prefLabel |
Smith-Magenis syndrome |
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| short name |
SMS |
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| SNOMED CT Identifier | ||
| subClassOf |