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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:Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
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Accession:DOID:9006005 term browser browse the term
Synonyms:exact_synonym: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
 primary_id: OMIM:613729


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Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptr Alu-mediated CDKN1A/p21 transcriptional regulator ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,138,275...14,139,577 JBrowse link
G Ccdc146 coiled-coil domain containing 146 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:13,662,766...13,811,619
Ensembl chr 4:13,662,766...13,811,608 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Dtx2 deltex E3 ubiquitin ligase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,643,289...20,682,908
Ensembl chr12:20,643,297...20,682,885 		JBrowse link
G Fgl2 fibrinogen-like 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207 		JBrowse link
G Gsap gamma-secretase activating protein ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:13,813,046...13,907,875
Ensembl chr 4:13,813,046...13,907,814 		JBrowse link
G Hip1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,133,364...21,267,796
Ensembl chr12:21,133,406...21,267,725 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Phtf2 putative homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,215,190...14,330,549
Ensembl chr 4:14,215,263...14,330,513 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Ptpn12 protein tyrosine phosphatase, non-receptor type 12 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,020,997...14,092,931
Ensembl chr 4:14,021,052...14,092,927 		JBrowse link
G Rcc1l RCC1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:22,543,125...22,574,042
Ensembl chr12:22,543,734...22,574,036 		JBrowse link
G Rhbdd2 rhomboid domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,043,605...21,054,305
Ensembl chr12:21,043,608...21,054,289 		JBrowse link
G Rsbn1l round spermatid basic protein 1-like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,138,076...14,203,972
Ensembl chr 4:14,139,031...14,201,147 		JBrowse link
G Srrm3 serine/arginine repetitive matrix 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,808,878...20,878,557
Ensembl chr12:20,809,089...20,878,505 		JBrowse link
G Ssc4d scavenger receptor cysteine rich family member with 4 domains ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,702,931...20,723,732
Ensembl chr12:20,702,950...20,718,706 		JBrowse link
G Styxl1 serine/threonine/tyrosine interacting-like 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,907,410...20,940,232
Ensembl chr12:20,907,435...20,939,752 		JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316 		JBrowse link
G Tmem60 transmembrane protein 60 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,210,029...14,214,884
Ensembl chr 4:14,210,029...14,215,063 		JBrowse link
G Upk3b uroplakin 3B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,630,231...20,637,634
Ensembl chr12:20,631,525...20,637,724 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,690,547...20,697,513
Ensembl chr12:20,690,547...20,697,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Neurodevelopmental Disorders 6770
        intellectual disability 4242
          Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        central nervous system disease 12334
          brain disease 11564
            disease of mental health 8223
              developmental disorder of mental health 5467
                specific developmental disorder 4432
                  communication disorder 369
                    learning disability 208
                      Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
paths to the root