ONTOLOGY REPORT - ANNOTATIONS


Term:hair disease
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Accession:DOID:421 term browser browse the term
Definition:Diseases affecting the orderly growth and persistence of hair.
Synonyms:exact_synonym: hair diseases
 primary_id: MESH:D006201;   RDO:0000413
For additional species annotation, visit the Alliance of Genome Resources.


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hair disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:11554173
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 JBrowse link 3 110,159,624 110,245,382 RGD:11554173
G Krt81 keratin 81 JBrowse link 7 143,107,901 143,113,006 RGD:1600197
G Krt86 keratin 86 JBrowse link 7 143,122,285 143,128,932 RGD:1600198
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:11554173
alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link 1 263,554,426 263,612,556 RGD:11554173
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:11554173
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8657081
G Brd4 bromodomain containing 4 JBrowse link 7 14,222,101 14,303,055 RGD:11554173
G Cdsn corneodesmosin JBrowse link 20 3,704,626 3,707,266 RGD:1599783
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:11554173
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8694094
RGD:8694095
G Far2 fatty acyl CoA reductase 2 JBrowse link 4 182,446,400 182,563,485 RGD:13592920
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:1599846
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:1599575
RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8549462
RGD:8549500
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Plcd1 phospholipase C, delta 1 JBrowse link 8 127,753,514 127,782,070 RGD:1302551
G RT1-CE13 RT1 class I, locus CE13 RGD:7387278
G Srd5a2 steroid 5 alpha-reductase 2 JBrowse link 6 25,279,635 25,315,501 RGD:11554173
G Supv3l1 Suv3 like RNA helicase JBrowse link 20 32,057,530 32,080,170 RGD:11554173
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b JBrowse link 15 51,433,853 51,464,215 RGD:11554173
G Tpmt thiopurine S-methyltransferase JBrowse link 17 18,029,090 18,047,716 RGD:11038725
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8157637
RGD:11554173
G Zdhhc13 zinc finger, DHHC-type containing 13 JBrowse link 1 104,106,211 104,145,045 RGD:11554173
G Zfp36 zinc finger protein 36 JBrowse link 1 85,380,088 85,382,565 RGD:11554173
alopecia areata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7411701
RGD:11554173
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:11554173
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:11554173
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:11554173
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:9587460
G Ehmt2 euchromatic histone lysine methyltransferase 2 JBrowse link 20 4,576,033 4,592,980 RGD:9587460
G Hdac1 histone deacetylase 1 JBrowse link 5 147,716,664 147,743,723 RGD:9587460
G Hdac2 histone deacetylase 2 JBrowse link 20 43,084,870 43,108,198 RGD:9587460
G Hdac7 histone deacetylase 7 JBrowse link 7 139,280,396 139,319,108 RGD:9587460
G Ikzf4 IKAROS family zinc finger 4 JBrowse link 7 3,061,422 3,098,142 RGD:11554173
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655875
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6909137
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8663449
RGD:8663450
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:11554173
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:9587460
G Kdm4a lysine demethylase 4A JBrowse link 5 136,967,650 137,014,402 RGD:9587460
G Kdm4b lysine demethylase 4B JBrowse link 9 10,656,035 10,734,127 RGD:9587460
G Kdm4c lysine demethylase 4C JBrowse link 5 90,800,139 91,012,662 RGD:9587460
G Kdm5a lysine demethylase 5A JBrowse link 4 152,892,388 152,972,196 RGD:9587460
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:6480681
G Prdx5 peroxiredoxin 5 JBrowse link 1 222,164,462 222,167,447 RGD:11554173
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484734
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:8547568
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:8547568
G Stx17 syntaxin 17 JBrowse link 5 63,866,346 63,926,276 RGD:11554173
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
alopecia universalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:7240710
RGD:8554872
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:7829773
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbm28 RNA binding motif protein 28 JBrowse link 4 56,398,769 56,438,442 RGD:7240710
RGD:8554872
Alopecia-Mental Retardation Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
RGD:7240710
Amaurosis Hypertrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 9 43,049,587 43,088,690 RGD:11554173
atrichia with papular lesions term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:7240710
RGD:8554872
G Odc1 ornithine decarboxylase 1 JBrowse link 6 42,852,529 42,859,142 RGD:13592920
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:8554872
RGD:11554173
RGD:7240710
Bamforth-Lazarus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Foxe1 forkhead box E1 JBrowse link 5 61,954,549 61,957,357 RGD:7240710
RGD:8554872
RGD:11554173
Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
Bjornstad syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 2 19,823,234 19,824,804 RGD:8554872
RGD:7240710
Central Centrifugal Cicatricial Alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Padi3 peptidyl arginine deiminase 3 JBrowse link 5 159,309,000 159,336,429 RGD:8554872
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:7240710
RGD:8554872
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:7240710
RGD:8554872
Congenital Woolly Hair term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Liph lipase H JBrowse link 11 82,680,167 82,732,145 RGD:11554173
cortisone reductase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:1625067
RGD:11554173
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:1625067
RGD:11554173
cortisone reductase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:8554872
RGD:7240710
cortisone reductase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:7240710
RGD:8554872
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
RGD:11554173
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 7 144,531,814 144,538,298 RGD:11554173
G Krt85 keratin 85 JBrowse link 7 143,160,480 143,167,828 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 9, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 7 144,531,814 144,538,298 RGD:7240710
RGD:8554872
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl26 C-C motif chemokine ligand 26 JBrowse link 12 24,157,182 24,161,870 RGD:11081159
Frontonasal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:7240710
RGD:8554872
Glomerulonephritis with Sparse Hair and Telangiectases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox18 SRY box 18 JBrowse link 3 177,177,237 177,179,039 RGD:8554872
RGD:7240710
G Tcea2 transcription elongation factor A2 JBrowse link 3 177,187,686 177,195,898 RGD:8554872
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr1 ANTXR cell adhesion molecule 1 JBrowse link 4 118,946,267 119,131,202 RGD:9684854
RGD:8554872
RGD:7240710
Hirsutism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
hypertrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:8554872
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
G Naglu N-acetyl-alpha-glucosaminidase JBrowse link 10 88,979,363 88,986,879 RGD:8554872
G Slc29a3 solute carrier family 29 member 3 JBrowse link 20 30,289,527 30,327,343 RGD:11554173
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca5 ATP binding cassette subfamily A member 5 JBrowse link 10 98,573,226 98,645,028 RGD:8554872
RGD:7240710
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:7240710
RGD:8554872
RGD:11554173
G Kcnj8 potassium voltage-gated channel subfamily J member 8 JBrowse link 4 176,783,287 176,789,143 RGD:11554173
hypotrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link 18 12,056,113 12,092,858 RGD:1599796
RGD:8554872
RGD:1302434
G Krt71 keratin 71 JBrowse link 7 143,345,201 143,371,346 RGD:11554173
G Liph lipase H JBrowse link 11 82,680,167 82,732,145 RGD:8554872
RGD:11554173
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:7240710
G Rpl21 ribosomal protein L21 JBrowse link 12 9,996,919 9,999,998 RGD:11554173
G Snrpe small nuclear ribonucleoprotein polypeptide E JBrowse link 13 50,252,707 50,258,951 RGD:11554173
hypotrichosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apcdd1 APC down-regulated 1 JBrowse link 18 58,270,398 58,300,982 RGD:7240710
RGD:11554173
RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:11554173
G Snrpe small nuclear ribonucleoprotein polypeptide E JBrowse link 13 50,252,707 50,258,951 RGD:10768831
hypotrichosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snrpe small nuclear ribonucleoprotein polypeptide E JBrowse link 13 50,252,707 50,258,951 RGD:7240710
RGD:8554872
hypotrichosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl21 ribosomal protein L21 JBrowse link 12 9,996,919 9,999,998 RGD:8554872
RGD:7240710
hypotrichosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt71 keratin 71 JBrowse link 7 143,345,201 143,371,346 RGD:8554872
RGD:7240710
Hypotrichosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
RGD:7240710
hypotrichosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdsn corneodesmosin JBrowse link 20 3,704,626 3,707,266 RGD:7240710
RGD:8554872
hypotrichosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:7240710
RGD:11554173
RGD:8554872
hypotrichosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link 18 12,056,113 12,092,858 RGD:7240710
RGD:8554872
hypotrichosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Liph lipase H JBrowse link 11 82,680,167 82,732,145 RGD:8554872
RGD:7240710
hypotrichosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt25 keratin 25 JBrowse link 10 87,225,361 87,238,659 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
RGD:13592920
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
hypotrichosis and recurrent skin vesicles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsc3 desmocollin 3 JBrowse link 18 11,753,047 11,789,846 RGD:8554872
RGD:7240710
Hypotrichosis-Lymphedema-Telangiectasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox18 SRY box 18 JBrowse link 3 177,177,237 177,179,039 RGD:1599075
RGD:8554872
RGD:7240710
G Tcea2 transcription elongation factor A2 JBrowse link 3 177,187,686 177,195,898 RGD:8554872
Ichthyosis Follicularis Atrichia Photophobia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
Loucks-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
RGD:7240710
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rin2 Ras and Rab interactor 2 JBrowse link 3 139,871,330 140,087,679 RGD:7240710
RGD:8554872
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:8554872
RGD:7240710
Menkes disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:734621
RGD:8554872
RGD:12879459
RGD:11554173
RGD:11340200
RGD:11252186
RGD:11252183
RGD:11252182
RGD:7240710
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
RGD:13592920
monilethrix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt81 keratin 81 JBrowse link 7 143,107,901 143,113,006 RGD:7240710
RGD:8554872
G Krt83 keratin 83 JBrowse link 7 143,078,996 143,085,833 RGD:7240710
RGD:8554872
G Krt86 keratin 86 JBrowse link 7 143,122,285 143,128,932 RGD:7240710
RGD:8554872
Naxos Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:7240710
RGD:8554872
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:7240710
RGD:8554872
RGD:11554173
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn1 claudin 1 JBrowse link 11 77,815,216 77,830,373 RGD:7240710
RGD:11341732
RGD:8554872
Noonan Syndrome-Like Disorder with Loose Anagen Hair term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:7240710
RGD:8554872
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp1cb protein phosphatase 1 catalytic subunit beta JBrowse link 6 23,548,507 23,581,136 RGD:8554872
RGD:7240710
Oliver-McFarlane Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
RGD:7240710
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kank2 KN motif and ankyrin repeat domains 2 JBrowse link 8 22,792,000 22,821,459 RGD:7240710
RGD:8554872
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7240710
RGD:8554872
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7246919
RGD:8554872
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
Pseudofolliculitis Barbae term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt75 keratin 75 JBrowse link 7 143,219,012 143,228,237 RGD:7240710
RGD:8554872
Schopf-Schulz-Passarge Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:7240710
RGD:8554872
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poc1a POC1 centriolar protein A JBrowse link 8 114,982,764 115,050,844 RGD:7240710
RGD:8554872
Skin Fragility-Woolly Hair Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia, Genevieve Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:8554872
RGD:7240710
G Trim14 tripartite motif-containing 14 JBrowse link 5 62,128,941 62,154,424 RGD:8554872
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:7240710
RGD:8554872
Tricho-Dento-Osseous Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:7240710
RGD:8554872
Trichohepatoenteric Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nelfe negative elongation factor complex member E JBrowse link 20 4,530,328 4,536,085 RGD:8554872
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:11554173
RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:11554173
RGD:8554872
Trichohepatoenteric Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:7240710
RGD:8554872
Trichohepatoenteric Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:7240710
RGD:8554872
Trichohepatoneurodevelopmental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc47 coiled-coil domain containing 47 JBrowse link 10 94,388,425 94,406,949 RGD:7240710
RGD:8554872
TRICHOMEGALY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf5 fibroblast growth factor 5 JBrowse link 14 12,974,921 12,996,046 RGD:7240710
RGD:8554872
trichorhinophalangeal syndrome type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aard alanine and arginine rich domain containing protein JBrowse link 7 91,588,458 91,593,299 RGD:8554872
G Acadl acyl-CoA dehydrogenase, long chain JBrowse link 9 73,833,368 73,871,857 RGD:8554872
G Anxa13 annexin A13 JBrowse link 7 98,217,642 98,270,442 RGD:8554872
G Atad2 ATPase family, AAA domain containing 2 JBrowse link 7 97,984,754 98,027,379 RGD:8554872
G Ccn3 cellular communication network factor 3 JBrowse link 7 94,375,134 94,382,154 RGD:8554872
G Col14a1 collagen type XIV alpha 1 chain JBrowse link 7 95,054,877 95,274,073 RGD:8554872
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:8554872
G Deptor DEP domain containing MTOR-interacting protein JBrowse link 7 94,795,161 95,000,750 RGD:8554872
G Derl1 derlin 1 JBrowse link 7 97,737,176 97,759,852 RGD:8554872
G Dscc1 DNA replication and sister chromatid cohesion 1 JBrowse link 7 94,759,076 94,774,787 RGD:8554872
G Eif3h eukaryotic translation initiation factor 3, subunit H JBrowse link 6 10,151,732 10,236,677 RGD:8554872
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 JBrowse link 7 94,479,931 94,563,086 RGD:8554872
G Erbb4 erb-b2 receptor tyrosine kinase 4 JBrowse link 9 75,021,790 76,178,936 RGD:8554872
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:8554872
G Fam83a family with sequence similarity 83, member A JBrowse link 7 97,855,773 97,880,227 RGD:8554872
G Fam91a1 family with sequence similarity 91, member A1 JBrowse link 7 98,302,803 98,341,201 RGD:8554872
G Fbxo32 F-box protein 32 JBrowse link 7 98,065,664 98,098,071 RGD:8554872
G Fer1l6 fer-1-like family member 6 JBrowse link 7 98,399,207 98,555,215 RGD:8554872
G Has2 hyaluronan synthase 2 JBrowse link 7 96,438,046 96,464,049 RGD:8554872
G Ikzf2 IKAROS family zinc finger 2 JBrowse link 9 76,621,230 76,771,017 RGD:8554872
G Kansl1l KAT8 regulatory NSL complex subunit 1-like JBrowse link 9 73,710,959 73,819,335 RGD:8554872
G Klhl38 kelch-like family member 38 JBrowse link 7 98,187,954 98,197,163 RGD:8554872
G Lancl1 LanC like 1 JBrowse link 9 74,018,192 74,048,098 RGD:8554872
G Lratd2 LRAT domain containing 2 JBrowse link 7 101,138,188 101,142,123 RGD:8554872
G Mal2 mal, T-cell differentiation protein 2 JBrowse link 7 94,130,852 94,163,649 RGD:8554872
G Map2 microtubule-associated protein 2 JBrowse link 9 73,204,753 73,462,965 RGD:8554872
G Med30 mediator complex subunit 30 JBrowse link 7 92,234,584 92,260,019 RGD:8554872
G Mrpl13 mitochondrial ribosomal protein L13 JBrowse link 7 95,288,400 95,309,997 RGD:8554872
G Mtbp MDM2 binding protein JBrowse link 7 95,309,928 95,392,418 RGD:8554872
G Mtss1 MTSS I-BAR domain containing 1 JBrowse link 7 98,820,799 98,960,878 RGD:8554872
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:8554872
G Myl1 myosin, light chain 1 JBrowse link 9 73,937,820 73,958,480 RGD:8554872
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 7 98,813,062 98,819,408 RGD:8554872
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 7 99,677,295 99,900,765 RGD:8554872
G Pvt1 Pvt1 oncogene JBrowse link 7 102,648,394 102,871,316 RGD:8554872
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:8554872
G RGD1310852 similar to RIKEN cDNA 9130401M01 JBrowse link 7 97,891,723 97,902,585 RGD:8554872
G Rnf139 ring finger protein 139 JBrowse link 7 98,770,840 98,782,025 RGD:8554872
G Rpe ribulose-5-phosphate-3-epimerase JBrowse link 9 73,687,684 73,713,643 RGD:8554872
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:8554872
G Slc30a8 solute carrier family 30 member 8 JBrowse link 7 91,832,988 91,869,329 RGD:8554872
G Sntb1 syntrophin, beta 1 JBrowse link 7 95,395,417 95,670,093 RGD:8554872
G Spag16 sperm associated antigen 16 JBrowse link 9 77,027,626 77,833,476 RGD:8554872
G Sqle squalene epoxidase JBrowse link 7 99,609,929 99,624,803 RGD:8554872
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:8554872
G Tatdn1 TatD DNase domain containing 1 JBrowse link 7 98,782,164 98,813,001 RGD:8554872
G Tbc1d31 TBC1 domain family, member 31 JBrowse link 7 97,778,260 97,839,668 RGD:8554872
G Tmem65 transmembrane protein 65 JBrowse link 7 98,668,589 98,709,613 RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:8554872
G Trib1 tribbles pseudokinase 1 JBrowse link 7 99,954,492 99,961,026 RGD:8554872
G Trmt12 tRNA methyltransferase 12 JBrowse link 7 98,748,547 98,750,173 RGD:8554872
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
G Utp23 UTP23, small subunit processome component JBrowse link 7 91,384,329 91,389,605 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
G Wdyhv1 WDYHV motif containing 1 JBrowse link 7 97,957,022 97,977,158 RGD:8554872
G Zhx1 zinc fingers and homeoboxes 1 JBrowse link 7 97,915,280 97,944,787 RGD:8554872
G Zhx2 zinc fingers and homeoboxes 2 JBrowse link 7 97,559,653 97,707,872 RGD:8554872
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
Uncombable Hair Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Padi3 peptidyl arginine deiminase 3 JBrowse link 5 159,309,000 159,336,429 RGD:8554872
RGD:7240710
G Tchh trichohyalin JBrowse link 2 193,778,022 193,784,793 RGD:11554173
G Tgm3 transglutaminase 3 JBrowse link 3 122,544,783 122,580,836 RGD:11554173
Uncombable Hair Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgm3 transglutaminase 3 JBrowse link 3 122,544,783 122,580,836 RGD:8554872
RGD:7240710
Uncombable Hair Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tchh trichohyalin JBrowse link 2 193,778,022 193,784,793 RGD:7240710
RGD:8554872
Woodhouse Sakati Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcaf17 DDB1 and CUL4 associated factor 17 JBrowse link 3 57,646,799 57,678,802 RGD:7240710
RGD:8554872
G Mettl8 methyltransferase like 8 JBrowse link 3 57,257,394 57,642,096 RGD:8554872
Woolly Hair, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt25 keratin 25 JBrowse link 10 87,225,361 87,238,659 RGD:11554173
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
Woolly Hair, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt25 keratin 25 JBrowse link 10 87,225,361 87,238,659 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      integumentary system disease 2253
        hair disease 204
          Bamforth-Lazarus syndrome 2
          Bird Headed Dwarfism Montreal Type 0
          Bjornstad syndrome 1
          Brachycephaly, Trichomegaly, and Developmental Delay 1
          Catatrichy 0
          Congenital Woolly Hair + 3
          Copper Deficiency, Familial Benign 0
          Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
          Dermoodontodysplasia 0
          Ectodermal Dysplasia 4, Hair/Nail Type 2
          Ectodermal Dysplasia 9, Hair/Nail Type 1
          FLOTCH Syndrome 0
          Hairy Palms and Soles 0
          Hirsutism + 8
          Kaler Garrity Stern Syndrome 0
          Katsantoni Papadakou Lagoyanni Syndrome 0
          Kozlowski-Krajewska Syndrome 0
          Martinez Monasterio Pinheiro Syndrome 0
          Menkes disease + 4
          Naxos Disease 1
          Oculotrichodysplasia 0
          Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
          Photosensitive Trichothiodystrophy 1 3
          Pili Annulati 0
          Pili Multigemini 0
          Pili Torti + 0
          Pseudofolliculitis Barbae 1
          Pseudomonilethrix 0
          Rodrigues Blindness 0
          Skin Fragility-Woolly Hair Syndrome 1
          TRICHOMEGALY 1
          Tricho-Dento-Osseous Syndrome 1
          Tricho-Dento-Osseous Syndrome 1 0
          Trichodysplasia-Xeroderma 0
          Trichohepatoenteric Syndrome + 4
          Trichohepatoneurodevelopmental Syndrome 1
          Trichostasis Spinulosa 0
          Uncombable Hair Syndrome + 3
          White Forelock with Malformations 0
          Woolly Hair, Autosomal Recessive + 3
          dilated cardiomyopathy with woolly hair and keratoderma + 1
          folliculitis + 1
          hypertrichosis + 11
          hypotrichosis + 96
          monilethrix + 3
          superficial mycosis + 0
          tinea capitis + 0
          trichorhinophalangeal syndrome type I 59
          trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            hair disease 204
              Bamforth-Lazarus syndrome 2
              Bird Headed Dwarfism Montreal Type 0
              Bjornstad syndrome 1
              Brachycephaly, Trichomegaly, and Developmental Delay 1
              Catatrichy 0
              Congenital Woolly Hair + 3
              Copper Deficiency, Familial Benign 0
              Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
              Dermoodontodysplasia 0
              Ectodermal Dysplasia 4, Hair/Nail Type 2
              Ectodermal Dysplasia 9, Hair/Nail Type 1
              FLOTCH Syndrome 0
              Hairy Palms and Soles 0
              Hirsutism + 8
              Kaler Garrity Stern Syndrome 0
              Katsantoni Papadakou Lagoyanni Syndrome 0
              Kozlowski-Krajewska Syndrome 0
              Martinez Monasterio Pinheiro Syndrome 0
              Menkes disease + 4
              Naxos Disease 1
              Oculotrichodysplasia 0
              Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
              Photosensitive Trichothiodystrophy 1 3
              Pili Annulati 0
              Pili Multigemini 0
              Pili Torti + 0
              Pseudofolliculitis Barbae 1
              Pseudomonilethrix 0
              Rodrigues Blindness 0
              Skin Fragility-Woolly Hair Syndrome 1
              TRICHOMEGALY 1
              Tricho-Dento-Osseous Syndrome 1
              Tricho-Dento-Osseous Syndrome 1 0
              Trichodysplasia-Xeroderma 0
              Trichohepatoenteric Syndrome + 4
              Trichohepatoneurodevelopmental Syndrome 1
              Trichostasis Spinulosa 0
              Uncombable Hair Syndrome + 3
              White Forelock with Malformations 0
              Woolly Hair, Autosomal Recessive + 3
              dilated cardiomyopathy with woolly hair and keratoderma + 1
              folliculitis + 1
              hypertrichosis + 11
              hypotrichosis + 96
              monilethrix + 3
              superficial mycosis + 0
              tinea capitis + 0
              trichorhinophalangeal syndrome type I 59
              trichorhinophalangeal syndrome type III 1
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.