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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:scalp dermatosis
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Accession:DOID:3136 term browser browse the term
Definition:Skin diseases involving the SCALP.
Synonyms:exact_synonym: dermatosis of scalp;   scalp dermatoses
 primary_id: MESH:D012536
 alt_id: RDO:0000833
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Adams-Oliver syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Scalp defect congenital ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Bms1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Scalp defect congenital ClinVar PMID:23785305 NCBI chr 4:150,433,567...150,471,783
Ensembl chr 4:150,433,570...150,471,834
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26299364, PMID:29924900 NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:21820096, PMID:24033266, PMID:25558065 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23522784, PMID:25558065 NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar
PMID:474617, PMID:16451141, PMID:21565291, PMID:25741868, PMID:28492532, PMID:29924900 NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:25741868, PMID:26457590, PMID:29924900 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2
ClinVar Annotator: match by OMIM:614219
OMIM
ClinVar
PMID:8849019, PMID:17159513, PMID:21820096, PMID:23522784, PMID:25558065, PMID:25741868, PMID:25824905, PMID:26457590, PMID:28492532, PMID:28884918, PMID:29924900, PMID:30111349 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by OMIM:614814
ClinVar Annotator: match by term: Adams-Oliver syndrome 3
OMIM
ClinVar
PMID:22883147, PMID:29924900 NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
Adams-Oliver Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4
ClinVar Annotator: match by OMIM:615297
OMIM
ClinVar
PMID:23522784, PMID:23860037, PMID:25558065, PMID:25741868, PMID:28492532, PMID:29924900 NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar Annotator: match by OMIM:616028
OMIM
ClinVar
PMID:1621771, PMID:10221902, PMID:10946361, PMID:15959515, PMID:16025100, PMID:16729972, PMID:17662764, PMID:18593716, PMID:19597493, PMID:19610107, PMID:20007775, PMID:20951801, PMID:21457232, PMID:22245843, PMID:22307742, PMID:22318994, PMID:23102684, PMID:23578328, PMID:23613382, PMID:24033266, PMID:24113472, PMID:24273032, PMID:24728327, PMID:24862819, PMID:25132448, PMID:25260786, PMID:25500235, PMID:25587027, PMID:25741868, PMID:25907466, PMID:25914885, PMID:25931334, PMID:25963545, PMID:26188975, PMID:26699486, PMID:26708639, PMID:26820064, PMID:27760138, PMID:27989580, PMID:28160419, PMID:28387797, PMID:28492532, PMID:28991257, PMID:29907982, PMID:29924900, PMID:30059548, PMID:30115950, PMID:30311386, PMID:30609409 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
JBrowse link
Adams-Oliver Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 6
ClinVar Annotator: match by term: Adams-Oliver syndrome 6
ClinVar
OMIM
PMID:25741868, PMID:26299364, PMID:29924900, PMID:32860008 NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8696350, PMID:8957519, PMID:9462761, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12900900, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16531735, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17449949, PMID:17525745, PMID:18247426, PMID:18552176, PMID:19610084, PMID:20301628, PMID:20489451, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9628581, PMID:11477603, PMID:12730828, PMID:15141358, PMID:15498460, PMID:16648375, PMID:17990063, PMID:18414213, PMID:19006247, PMID:20656880, PMID:20683995, PMID:20921020, PMID:21418059, PMID:22382802, PMID:23352163, PMID:23757202, PMID:24033266, PMID:25502226, PMID:25741868, PMID:26104215, PMID:26133662, PMID:26395554, PMID:26443248, PMID:26467025, PMID:27175599, PMID:27353947, PMID:27829003, PMID:28041643, PMID:28492532 NCBI chr 7:74,118,834...74,722,341 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        scalp dermatosis 25
          Adams-Oliver syndrome + 23
          Akesson Syndrome 0
          Beare-Stevenson cutis gyrata syndrome 1
          Cutis Verticis Gyrata and Mental Deficiency 0
          Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 1
          Dandruff 0
          Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 0
          Rosenthal-Kloepfer Syndrome 0
          tinea capitis + 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            scalp dermatosis 25
              Adams-Oliver syndrome + 23
              Akesson Syndrome 0
              Beare-Stevenson cutis gyrata syndrome 1
              Cutis Verticis Gyrata and Mental Deficiency 0
              Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 1
              Dandruff 0
              Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 0
              Rosenthal-Kloepfer Syndrome 0
              tinea capitis + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.