loading...| Preferred Name | Smith-Magenis syndrome | |
| Synonyms |
chromosome 17p11.2 deletion syndrome 17p11.2 microdeletion syndrome |
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| Definitions |
A chromosomal deletion syndrome that is 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/DOID_0060768 |
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| alternative label |
chromosome 17p11.2 deletion syndrome 17p11.2 microdeletion syndrome |
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| database_cross_reference |
ICD10CM:Q93.5 MESH:D058496 GARD:8197 MIM:182290 ORDO:819 |
|
| definition |
A chromosomal deletion syndrome that is 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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| has exact synonym |
chromosome 17p11.2 deletion syndrome 17p11.2 microdeletion syndrome |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060768 |
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| in_subset | ||
| label |
Smith-Magenis syndrome |
|
| notation |
DOID:0060768 |
|
| note |
A chromosomal deletion syndrome that is 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. |
|
| preferred label |
Smith-Magenis syndrome |
|
| prefLabel |
Smith-Magenis syndrome |
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| subClassOf |