loading...| Preferred Name | Smith-Magenis syndrome | |
| Synonyms |
chromosome 17P11.2 deletion syndrome Smith-Magenis chromosome region SMS Smith-Magenis syndrome chromosome region SMITH-Magenis syndrome 17p11.2 microdeletion syndrome Smith-Magenis syndrome, Isolated cases chromosome 17p11.2 deletion syndrome Smith-Magenis syndrome |
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| Definitions |
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008434 |
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| altLabel |
chromosome 17P11.2 deletion syndrome Smith-Magenis chromosome region SMS Smith-Magenis syndrome chromosome region SMITH-Magenis syndrome 17p11.2 microdeletion syndrome Smith-Magenis syndrome, Isolated cases chromosome 17p11.2 deletion syndrome Smith-Magenis syndrome |
|
| definition |
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. |
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| has_exact_synonym |
17p11.2 microdeletion syndrome Smith-Magenis syndrome, Isolated cases chromosome 17p11.2 deletion syndrome Smith-Magenis syndrome |
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| has_related_synonym |
chromosome 17P11.2 deletion syndrome Smith-Magenis chromosome region SMS Smith-Magenis syndrome chromosome region SMITH-Magenis syndrome |
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| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5588 |
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| label |
Smith-Magenis syndrome |
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| prefixIRI |
MONDO:0008434 |
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| prefLabel |
Smith-Magenis syndrome |
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| textual definition |
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0016565 http://purl.obolibrary.org/obo/MONDO_0000508 |