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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Smith-Magenis syndrome
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Accession:DOID:0060768 term browser browse the term
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. (DO)
Synonyms:exact_synonym: 17p11.2 Monosomy;   17p11.2 microdeletion syndrome;   Chromosome 17p11.2 Deletion Syndrome;   SMCR;   SMS;   Smith-Magenis syndrome chromosome region
 related_synonym: SMITH-MAGENIS SYNDROME-LIKE
 primary_id: MESH:D058496
 alt_id: OMIM:182290
 xref: GARD:8197;   NCI:C75469;   ORDO:819
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Smith-Magenis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:24026677 PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093 		JBrowse link
G Jakmip1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr14:78,403,448...78,523,108
Ensembl chr14:78,424,960...78,469,480 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:10854091 PMID:11055898 PMID:11738883 PMID:12111643 PMID:12966523 PMID:16473305 PMID:16690727 PMID:16844334 PMID:17089071 PMID:17387578 PMID:19652677 PMID:19914908 PMID:20151026 PMID:21982064 PMID:23921973 PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Rai1 retinoic acid induced 1 ISO DNA:deletions, frameshift mutations:cds:
ClinVar Annotator: match by term: Smith-Magenis syndrome
ClinVar Annotator: match by OMIM:182290
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12652298 PMID:15459175 PMID:15746153 PMID:15788730 PMID:16845274 PMID:17273973 PMID:17517686 PMID:18285828 PMID:19116176 PMID:19236431 PMID:19752160 PMID:20691407 PMID:20981775 PMID:21857958 PMID:22578325 PMID:25087610 PMID:25741868 PMID:26467025, PMID:12652298 RGD:1599405 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583 		JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chr  X:40,363,646...40,415,110
Ensembl chr  X:40,363,646...40,415,109 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr10:46,599,392...46,720,921
Ensembl chr10:46,602,231...46,720,910 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865 		JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      chromosomal deletion syndrome 879
        Smith-Magenis syndrome 14
          Deafness, with Smith-Magenis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16122
    Pathological Conditions, Signs and Symptoms 8840
      Pathologic Processes 6201
        Chromosome Aberrations 1737
          Aneuploidy 1019
            Monosomy 922
              Chromosome Deletion 922
                chromosomal deletion syndrome 879
                  Smith-Magenis syndrome 14
                    Deafness, with Smith-Magenis Syndrome 1
paths to the root