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ONTOLOGY REPORT - ANNOTATIONS


Term:Smith-Magenis syndrome
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Accession:DOID:0060768 term browser browse the term
Definition:Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Synonyms:exact_synonym: 17p11.2 Monosomy;   17p11.2 microdeletion syndrome;   Chromosome 17p11.2 Deletion Syndrome;   SMS
 narrow_synonym: CHROMOSOME 17p11.2 DELETION SYNDROME SMITH-MAGENIS SYNDROME CHROMOSOME REGION;   SMCR
 related_synonym: SMITH-MAGENIS SYNDROME-LIKE
 primary_id: MESH:D058496
 alt_id: OMIM:182290;   RDO:0004325
 xref: GARD:8197;   ORDO:819
For additional species annotation, visit the Alliance of Genome Resources.


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Smith-Magenis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:8554872
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:8554872
G Jakmip1 janus kinase and microtubule interacting protein 1 JBrowse link 14 78,403,448 78,523,108 RGD:8554872
G Kdm5c lysine demethylase 5C JBrowse link X 22,302,664 22,349,298 RGD:8554872
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Pogz pogo transposable element derived with ZNF domain JBrowse link 2 195,995,322 196,041,500 RGD:8554872
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:7240710
RGD:8554872
RGD:11554173
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:8554872
G Tom1l2 target of myb1 like 2 membrane trafficking protein JBrowse link 10 46,599,392 46,720,921 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
Chromosome 17 Deletion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
chromosome 17q12 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aatf apoptosis antagonizing transcription factor JBrowse link 10 71,744,648 71,837,851 RGD:8554872
G Acaca acetyl-CoA carboxylase alpha JBrowse link 10 71,519,392 71,719,910 RGD:8554872
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:8554872
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:8554872
G Ddx52 DExD-box helicase 52 JBrowse link 10 71,253,667 71,276,397 RGD:8554872
G Dhrs11 dehydrogenase/reductase 11 JBrowse link 10 72,144,042 72,153,496 RGD:8554872
G Dusp14 dual specificity phosphatase 14 JBrowse link 10 71,363,688 71,383,602 RGD:8554872
G Ggnbp2 gametogenetin binding protein 2 JBrowse link 10 72,156,729 72,188,834 RGD:8554872
G Hnf1b HNF1 homeobox B JBrowse link 10 71,159,863 71,218,902 RGD:8554872
G Lhx1 LIM homeobox 1 JBrowse link 10 71,843,991 71,849,293 RGD:8554872
G LOC102552988 uncharacterized LOC102552988 JBrowse link 10 71,462,168 71,493,312 RGD:8554872
G Mrm1 mitochondrial rRNA methyltransferase 1 JBrowse link 10 72,136,241 72,143,075 RGD:8554872
G Mrpl45 mitochondrial ribosomal protein L45 JBrowse link 10 85,257,876 85,269,806 RGD:8554872
G Myo19 myosin XIX JBrowse link 10 72,198,475 72,227,892 RGD:8554872
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:8554872
G Synrg synergin, gamma JBrowse link 10 71,278,698 71,357,791 RGD:8554872
G Tada2a transcriptional adaptor 2A JBrowse link 10 71,393,701 71,441,435 RGD:8554872
G Znhit3 zinc finger, HIT-type containing 3 JBrowse link 10 72,227,710 72,235,932 RGD:8554872
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      chromosomal deletion syndrome 324
        Smith-Magenis syndrome 34
          Chromosome 17 Deletion + 20
          Deafness, with Smith-Magenis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    Pathological Conditions, Signs and Symptoms 7254
      Pathologic Processes 4755
        Chromosome Aberrations 518
          Aneuploidy 425
            Monosomy 380
              Chromosome Deletion 380
                chromosomal deletion syndrome 324
                  Smith-Magenis syndrome 34
                    Chromosome 17 Deletion + 20
                    Deafness, with Smith-Magenis Syndrome 1
paths to the root