loading...| Preferred Name | Smith-Magenis syndrome | |
| Synonyms |
Smith-Magenis syndrome chromosome region Smith-Magenis chromosome region 17p11.2 microdeletion syndrome Smith-Magenis syndrome SMITH-Magenis syndrome chromosome 17p11.2 deletion syndrome Smith-Magenis syndrome, Isolated cases chromosome 17P11.2 deletion syndrome Smith Magenis Syndrome SMS |
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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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008434 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008434 |
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| database_cross_reference |
OMIM:182290 DOID:0060768 icd11.foundation:989025532 NCIT:C75469 MEDGEN:162881 NANDO:1200687 SCTID:401315004 NANDO:2200954 ICD9:758.33 UMLS:C0795864 Orphanet:819 MESH:D058496 DECIPHER:8 GARD:8197 NORD:1725 |
|
| 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. |
|
| has_exact_synonym |
17p11.2 microdeletion syndrome Smith-Magenis syndrome SMITH-Magenis syndrome chromosome 17p11.2 deletion syndrome Smith-Magenis syndrome, Isolated cases chromosome 17P11.2 deletion syndrome Smith Magenis Syndrome SMS |
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| has_related_synonym |
Smith-Magenis syndrome chromosome region Smith-Magenis chromosome region |
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| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5588 |
|
| id |
MONDO:0008434 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
Smith-Magenis syndrome |
|
| notation |
MONDO:0008434 |
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| preferred label |
Smith-Magenis syndrome |
|
| prefLabel |
Smith-Magenis syndrome |
|
| skos_exactMatch |
http://identifiers.org/mesh/D058496 http://purl.obolibrary.org/obo/DOID_0060768 http://purl.obolibrary.org/obo/NCIT_C75469 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/989025532 http://linkedlifedata.com/resource/umls/id/C0795864 http://purl.obolibrary.org/obo/Orphanet_819 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0100545 http://purl.obolibrary.org/obo/MONDO_0000508 |
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| excluded_subClassOf |