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
Accession: DOID:0060768
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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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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