loading...| Preferred Name | Smith-Magenis Syndrome | |
| Synonyms |
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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://www.phoc.org.cn/pmo/class/PMO_00040057 |
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| Database_Cross_Reference |
NDFRT:N0000182203 MTH:NOCODE JABL:186 DO:DOID:0060768 MEDCIN:312751 OMIM:607642 CHV:0000048942 SNOMEDCT_US:401315004 MSH:D058496 OMIM:182290 NCI:C75469 MTHICD9:758.33 ICD10CM:Q93.88 CSP:5002-0024 LCH_NW:sh2005007971 |
|
| 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. |
|
| label |
Smith-Magenis Syndrome |
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| MCID |
MC00275353 |
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| PMOID |
PMO:00040057 |
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| prefixIRI |
pmo:PMO_00040057 |
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| prefLabel |
Smith-Magenis Syndrome |
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| Synonym |
chromosome 17p deletion syndrome 17p11.2 microdeletion syndrome CHROMOSOME 17p11.2 DELETION SYNDROME Smith-Magenis syndrome (SMS) Smith Magenis syndrome chromosome 17p11.2 deletion syndrome SMS Syndrome, Smith-Magenis deletion 17p syndrome smith-magenis syndrome magenis smith syndrome Smith-Magenis syndrome (diagnosis) magenis syndrome smith Chromosome 17p11.2 Deletion Syndrome chromosome 17p monosomy SMITH-MAGENIS SYNDROME Smith-Magenis syndrome (disorder) del(17p) syndrome Smith-Magenis Syndrome [Disease/Finding] monosomy 17p 17p- syndrome Smith Magenis Syndrome smith magenis syndrome partial monosomy 17p Smith-Magenis syndrome 17p deletion syndrome |
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| Tree Number |
T9.8.3.9.16 T9.8.3.1.20 T9.8.4.32.16 T9.21.12.3 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00038329 |