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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:hypertrichosis
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Accession:DOID:420 term browser browse the term
Definition:A hair disease characterized by hair growth that is abnormal in quantity or location. (DO)
Synonyms:exact_synonym: hypertrichoses
 primary_id: MESH:D006983
 xref: ICD10CM:L68;   NCI:C79597;   ORDO:79365
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:25741868 NCBI chr13:84,351,298...84,799,691 JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:21706002 PMID:25741868 NCBI chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr16:63,735,411...63,744,365 JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr 9:59,927,957...59,979,570
Ensembl chr 9:59,927,964...59,975,174 		JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:1,095,514...1,137,937
Ensembl chr14:1,095,719...1,135,572 		JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome OMIM
ClinVar		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr10:124,889,954...124,953,135
Ensembl chr10:124,890,134...124,890,613 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:84,351,298...84,799,691 JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 5:24,907,345...24,927,028
Ensembl chr 5:24,907,657...24,928,995 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 PMID:28512736 NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More... NCBI chr 6:9,943,162...10,044,476 JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:24933152 More... NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr16:65,539,138...65,559,810
Ensembl chr16:65,541,513...65,561,401 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203 NCBI chr14:101,982,551...101,991,305
Ensembl chr14:101,989,895...101,991,220 		JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12		 OMIM
ClinVar		 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More... NCBI chr13:84,351,298...84,799,691 JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 More... NCBI chr 6:9,943,162...10,044,476 JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr11:46,313,998...46,328,672
Ensembl chr11:46,314,404...46,328,725 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICRA BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr 6:40,927,931...41,024,080
Ensembl chr 6:40,990,615...41,023,222 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 6:33,290,639...33,373,059
Ensembl chr 6:33,290,622...33,374,693 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr19:6,944,291...6,949,948
Ensembl chr19:6,947,403...6,949,845 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr19:6,889,343...6,900,563
Ensembl chr19:6,889,385...6,899,788 		JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr19:6,954,917...6,992,241
Ensembl chr19:6,959,349...6,991,552 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 6:9,943,162...10,044,476 JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr16:65,539,138...65,559,810
Ensembl chr16:65,541,513...65,561,401 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr11:41,933,650...42,117,495
Ensembl chr11:42,028,083...42,118,892 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chr11:52,103,075...52,131,070
Ensembl chr11:52,104,345...52,131,079 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr14:101,982,551...101,991,305
Ensembl chr14:101,989,895...101,991,220 		JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNK4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | ClinVar Annotator: match by term: KCNK4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30290154 NCBI chr 1:9,934,174...9,942,815
Ensembl chr 1:9,934,597...9,941,609 		JBrowse link
Facial Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Facial hypertrichosis ClinVar PMID:32581362 NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis OMIM
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr16:52,278,563...52,373,218
Ensembl chr16:52,278,573...52,362,273 		JBrowse link
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type OMIM
ClinVar		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type ClinVar PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:32215968 NCBI chr11:21,624,963...21,634,940
Ensembl chr11:21,624,970...21,634,042 		JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    sensory system disease 6522
      skin disease 3706
        hair disease 313
          hypertrichosis 29
            Acromegaloid Facial Appearance Syndrome 0
            Amaurosis Hypertrichosis 1
            Ambras type hypertrichosis universalis congenita 0
            Anterior Cervical Hypertrichosis 0
            Barber-Say syndrome 1
            CAHMR Syndrome 0
            Cervical Hypertrichosis Neuropathy 0
            Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
            Coffin-Siris syndrome + 18
            Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 0
            Congenital Hypertrichosis Lanuginosa 0
            Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
            Facial Hypertrichosis 1
            Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
            Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
            Gorlin Chaudhry Moss Syndrome 0
            Hairy Ears 0
            Hairy Ears, Y-Linked 0
            Hairy Elbows 0
            Hairy Nose Tip 0
            Hypertrichosis Congenital Generalized X-Linked 0
            Midphalangeal Hair 0
            Muller Barth Menger Syndrome 0
            Oliver-McFarlane syndrome 1
            Ramon Syndrome 0
            Schaap Taylor Baraitser Syndrome 0
            Wiedemann Grosse Dibbern Syndrome 0
            hypertrichosis of eyelid 0
            hypertrichotic osteochondrodysplasia Cantu type 2
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      nervous system disease 12970
        Neurologic Manifestations 9421
          sensory system disease 6522
            skin disease 3706
              hair disease 313
                hypertrichosis 29
                  Acromegaloid Facial Appearance Syndrome 0
                  Amaurosis Hypertrichosis 1
                  Ambras type hypertrichosis universalis congenita 0
                  Anterior Cervical Hypertrichosis 0
                  Barber-Say syndrome 1
                  CAHMR Syndrome 0
                  Cervical Hypertrichosis Neuropathy 0
                  Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
                  Coffin-Siris syndrome + 18
                  Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 0
                  Congenital Hypertrichosis Lanuginosa 0
                  Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
                  Facial Hypertrichosis 1
                  Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
                  Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
                  Gorlin Chaudhry Moss Syndrome 0
                  Hairy Ears 0
                  Hairy Ears, Y-Linked 0
                  Hairy Elbows 0
                  Hairy Nose Tip 0
                  Hypertrichosis Congenital Generalized X-Linked 0
                  Midphalangeal Hair 0
                  Muller Barth Menger Syndrome 0
                  Oliver-McFarlane syndrome 1
                  Ramon Syndrome 0
                  Schaap Taylor Baraitser Syndrome 0
                  Wiedemann Grosse Dibbern Syndrome 0
                  hypertrichosis of eyelid 0
                  hypertrichotic osteochondrodysplasia Cantu type 2
paths to the root