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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 12 242,717 255,736 RGD:9068941
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 JBrowse link 30 7,144,727 7,248,014 RGD:9068941
G KRT83 keratin 83 JBrowse link 27 2,746,175 2,752,472 RGD:9068941
G SHOC2 SHOC2, leucine rich repeat scaffold protein JBrowse link 28 22,241,886 22,338,418 RGD:9068941
alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC2 ATP binding cassette subfamily C member 2 JBrowse link 28 12,670,885 12,740,124 RGD:9068941
G AR androgen receptor JBrowse link 24
X
34,713,390
51,969,785
34,731,461
52,167,450
RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G BRD4 bromodomain containing 4 JBrowse link 20 46,844,795 46,927,620 RGD:9068941
G CDSN corneodesmosin JBrowse link 12 819,488 824,015 RGD:9068941
G COL7A1 collagen type VII alpha 1 chain JBrowse link 20 40,519,121 40,550,305 RGD:9068941
G CRH corticotropin releasing hormone JBrowse link 29 15,831,944 15,840,560 RGD:9068941
G DLA-64 MHC class I DLA-64 JBrowse link 12 983,573 986,969 RGD:9068941
G ESR2 estrogen receptor 2 JBrowse link 8 38,645,917 38,715,347 RGD:9068941
G FAR2 fatty acyl-CoA reductase 2 JBrowse link 27 18,659,688 18,791,757 RGD:9068941
G FOXN1 forkhead box N1 JBrowse link 9 42,734,228 42,749,856 RGD:9068941
G HR HR, lysine demethylase and nuclear receptor corepressor JBrowse link 25 35,120,566 35,136,560 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MLPH melanophilin JBrowse link 25 48,121,499 48,167,535 RGD:12801476
G MTHFR methylenetetrahydrofolate reductase JBrowse link 2 84,445,526 84,457,435 RGD:9068941
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 7 38,503,072 38,542,556 RGD:9068941
G PLCD1 phospholipase C delta 1 JBrowse link 23 7,782,495 7,804,969 RGD:9068941
G SRD5A2 steroid 5 alpha-reductase 2 JBrowse link 17 25,017,113 25,056,156 RGD:9068941
G SUPV3L1 Suv3 like RNA helicase JBrowse link 4 20,313,902 20,342,375 RGD:9068941
G TPMT thiopurine S-methyltransferase JBrowse link 35 16,928,991 16,953,891 RGD:9068941
G VDR vitamin D receptor JBrowse link 27 6,852,915 6,909,466 RGD:9068941
G ZDHHC13 zinc finger DHHC-type containing 13 JBrowse link 21 41,243,214 41,292,458 RGD:9068941
G ZFP36 ZFP36 ring finger protein JBrowse link 1 113,815,972 113,818,093 RGD:9068941
alopecia areata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 37 12,647,712 12,653,874 RGD:9068941
G CXCL10 C-X-C motif chemokine ligand 10 JBrowse link 32 598,406 599,925 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 55,882,433 55,884,582 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 20 50,872,213 50,928,352 RGD:9068941
G EHMT2 euchromatic histone lysine methyltransferase 2 JBrowse link 12 1,341,202 1,354,602 RGD:9068941
G HDAC1 histone deacetylase 1 JBrowse link 2 68,901,339 68,936,473 RGD:9068941
G HDAC2 histone deacetylase 2 JBrowse link 12 70,053,822 70,083,491 RGD:9068941
G HDAC7 histone deacetylase 7 JBrowse link 27 6,941,287 6,968,370 RGD:9068941
G IKZF4 IKAROS family zinc finger 4 JBrowse link 10 332,614 360,470 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL2RA interleukin 2 receptor subunit alpha JBrowse link 2 29,892,130 29,948,926 RGD:9068941
G KDM1A lysine demethylase 1A JBrowse link 2 76,313,742 76,375,716 RGD:9068941
G KDM4A lysine demethylase 4A JBrowse link 15 16,521,760 16,570,965 RGD:9068941
G KDM4B lysine demethylase 4B JBrowse link 20 54,713,900 54,843,991 RGD:9068941
G KDM4C lysine demethylase 4C JBrowse link 11 27,662,764 28,101,432 RGD:9068941
G KDM5A lysine demethylase 5A JBrowse link 27 42,364,606 42,447,839 RGD:9068941
G LOC100683099 NKG2D ligand 1 JBrowse link 1 40,635,616 40,639,865 RGD:9068941
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain JBrowse link 12 2,244,820 2,250,822 RGD:9068941
G NOTCH4 notch receptor 4 JBrowse link 12 1,585,249 1,608,721 RGD:9068941
G PRDX5 peroxiredoxin 5 JBrowse link 18 52,750,977 52,754,432 RGD:9068941
G PTPN22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 17 51,623,628 51,683,039 RGD:9068941
G STX17 syntaxin 17 JBrowse link 11 56,885,874 56,951,714 RGD:9068941
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 13 15,017,180 15,273,177 RGD:9068941
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 1 60,941,772 60,944,694 RGD:9068941
alopecia universalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HR HR, lysine demethylase and nuclear receptor corepressor JBrowse link 25 35,120,566 35,136,560 RGD:7240710
RGD:9068941
G IL4 interleukin 4 JBrowse link 11 20,972,693 20,981,539 RGD:9068941
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 14 8,043,159 8,074,174 RGD:7240710
RGD:9068941
Alopecia-Mental Retardation Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHSG alpha 2-HS glycoprotein JBrowse link 34 19,221,034 19,228,866 RGD:9068941
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 10 45,157,418 45,197,323 RGD:9068941
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 25 35,120,566 35,136,560 RGD:7240710
RGD:9068941
G ODC1 ornithine decarboxylase 1 JBrowse link 17 7,368,699 7,376,970 RGD:9068941
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ST14 suppression of tumorigenicity 14 JBrowse link 5 4,652,493 4,666,728 RGD:7240710
RGD:9068941
Bamforth-Lazarus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 34 30,912,632 30,977,624 RGD:9068941
G FOXE1 forkhead box E1 JBrowse link 11 55,143,389 55,145,954 RGD:7240710
RGD:9068941
G TTF2 transcription termination factor 2 JBrowse link 17 54,446,209 54,485,980 RGD:9068941
Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TWIST2 twist family bHLH transcription factor 2 JBrowse link 25 49,165,450 49,216,545 RGD:7240710
RGD:9068941
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 1 60,941,772 60,944,694 RGD:9068941
Bjornstad syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 37 25,261,704 25,266,517 RGD:7240710
RGD:9068941
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPS23 ribosomal protein S23 JBrowse link 3 25,208,812 25,210,492 RGD:9068941
RGD:7240710
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 28 32,133,779 32,157,835 RGD:7240710
RGD:9068941
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 7 58,159,283 58,239,018 RGD:7240710
RGD:9068941
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH3 cadherin 3 JBrowse link 5 80,864,859 80,912,136 RGD:7240710
RGD:9068941
Congenital Woolly Hair term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPH lipase H JBrowse link 34 18,269,510 18,316,664 RGD:9068941
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 62,548,136 62,577,346 RGD:9068941
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 7 8,344,380 8,409,901 RGD:9068941
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 62,548,136 62,577,346 RGD:9068941
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 7 8,344,380 8,409,901 RGD:7240710
RGD:9068941
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 31 36,168,172 36,196,600 RGD:9068941
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATR ATR serine/threonine kinase JBrowse link 23 38,131,956 38,223,888 RGD:7240710
RGD:9068941
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 9 21,190,672 21,195,060 RGD:7240710
RGD:9068941
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 35 7,479,628 7,524,732 RGD:7240710
RGD:9068941
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 35 7,479,628 7,524,732 RGD:7240710
RGD:9068941
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXC13 homeobox C13 JBrowse link 27 1,315,532 1,323,470 RGD:9068941
G KRT74 keratin 74 JBrowse link 27 2,519,244 2,528,107 RGD:9068941
G KRT85 keratin 85 JBrowse link 27 2,706,246 2,713,688 RGD:7240710
RGD:9068941
Ectodermal Dysplasia 9, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXC13 homeobox C13 JBrowse link 27 1,315,532 1,323,470 RGD:7240710
RGD:9068941
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCL26 C-C motif chemokine ligand 26 JBrowse link 6 7,151,352 7,154,509 RGD:9068941
Frontonasal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX4 ALX homeobox 4 JBrowse link 18 44,922,042 44,967,557 RGD:7240710
RGD:9068941
Glomerulonephritis with Sparse Hair and Telangiectases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX18 SRY-box 18 JBrowse link 24 47,494,581 47,496,563 RGD:9068941
RGD:7240710
G TCEA2 transcription elongation factor A2 JBrowse link 24 47,508,161 47,512,399 RGD:9068941
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 10 67,829,573 68,021,368 RGD:7240710
RGD:9068941
G ATR ATR serine/threonine kinase JBrowse link 23 38,131,956 38,223,888 RGD:9068941
Hirsutism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1G calcium voltage-gated channel subunit alpha1 G JBrowse link 9 26,481,148 26,544,511 RGD:9068941
G POMC proopiomelanocortin JBrowse link 17 19,431,396 19,438,247 RGD:9068941
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 45,099,312 45,148,103 RGD:9068941
hypertrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1B AT-rich interaction domain 1B JBrowse link 1 46,370,621 46,800,531 RGD:9068941
G ASXL1 ASXL transcriptional regulator 1 JBrowse link 24 21,725,126 21,804,745 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 RGD:9068941
G NAGLU N-acetyl-alpha-glucosaminidase JBrowse link 9 20,407,296 20,414,094 RGD:9068941
G SLC29A3 solute carrier family 29 member 3 JBrowse link 4 22,094,899 22,135,066 RGD:9068941
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 9 15,708,070 15,781,100 RGD:9068941
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 27 25,199,580 25,352,637 RGD:7240710
RGD:9068941
G KCNJ8 potassium voltage-gated channel subfamily J member 8 JBrowse link 27 25,368,565 25,375,754 RGD:9068941
hypotrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG4 desmoglein 4 JBrowse link 7 58,101,294 58,135,376 RGD:9068941
G KRT71 keratin 71 JBrowse link 27 2,536,831 2,545,103 RGD:9068941
G KRT74 keratin 74 JBrowse link 27 2,519,244 2,528,107 RGD:9068941
G LIPH lipase H JBrowse link 34 18,269,510 18,316,664 RGD:9068941
G LPAR6 lysophosphatidic acid receptor 6 JBrowse link 22 3,110,797 3,112,973 RGD:7240710
RGD:9068941
G RPL21 ribosomal protein L21 JBrowse link 25 12,326,376 12,331,398 RGD:9068941
G SGK3 serum/glucocorticoid regulated kinase family, member 3 JBrowse link 29 16,236,197 16,418,225 RGD:12801476
G SNRPE small nuclear ribonucleoprotein polypeptide E JBrowse link 38 515,808 521,536 RGD:9068941
hypotrichosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APCDD1 APC down-regulated 1 JBrowse link 7 76,336,502 76,368,695 RGD:7240710
RGD:9068941
G LPAR6 lysophosphatidic acid receptor 6 JBrowse link 22 3,110,797 3,112,973 RGD:9068941
G SNRPE small nuclear ribonucleoprotein polypeptide E JBrowse link 38 515,808 521,536 RGD:9068941
hypotrichosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNRPE small nuclear ribonucleoprotein polypeptide E JBrowse link 38 515,808 521,536 RGD:7240710
RGD:9068941
hypotrichosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPL21 ribosomal protein L21 JBrowse link 25 12,326,376 12,331,398 RGD:7240710
RGD:9068941
hypotrichosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT71 keratin 71 JBrowse link 27 2,536,831 2,545,103 RGD:7240710
RGD:9068941
Hypotrichosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LSS lanosterol synthase JBrowse link 31 39,479,255 39,502,439 RGD:9068941
RGD:7240710
hypotrichosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDSN corneodesmosin JBrowse link 12 819,488 824,015 RGD:7240710
RGD:9068941
hypotrichosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT74 keratin 74 JBrowse link 27 2,519,244 2,528,107 RGD:7240710
RGD:9068941
hypotrichosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HR HR, lysine demethylase and nuclear receptor corepressor JBrowse link 25 35,120,566 35,136,560 RGD:7240710
RGD:9068941
hypotrichosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG4 desmoglein 4 JBrowse link 7 58,101,294 58,135,376 RGD:7240710
RGD:9068941
hypotrichosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPH lipase H JBrowse link 34 18,269,510 18,316,664 RGD:7240710
RGD:9068941
hypotrichosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT25 keratin 25 JBrowse link 9 21,940,413 21,947,487 RGD:9068941
G LPAR6 lysophosphatidic acid receptor 6 JBrowse link 22 3,110,797 3,112,973 RGD:9068941
G RB1 RB transcriptional corepressor 1 JBrowse link 22 3,061,621 3,204,625 RGD:9068941
hypotrichosis and recurrent skin vesicles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSC3 desmocollin 3 JBrowse link 7 58,412,769 58,457,593 RGD:7240710
RGD:9068941
Hypotrichosis-Lymphedema-Telangiectasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX18 SRY-box 18 JBrowse link 24 47,494,581 47,496,563 RGD:7240710
RGD:9068941
G TCEA2 transcription elongation factor A2 JBrowse link 24 47,508,161 47,512,399 RGD:9068941
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 17,655,295 17,718,960 RGD:7240710
RGD:9068941
Loucks-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DPH1 diphthamide biosynthesis 1 JBrowse link 9 46,137,573 46,147,829 RGD:9068941
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 24 3,345,221 3,563,716 RGD:7240710
RGD:9068941
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDNRA endothelin receptor type A JBrowse link 15 45,823,472 45,878,527 RGD:7240710
RGD:9068941
Menkes disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP7A ATPase copper transporting alpha JBrowse link X 60,203,336 60,356,525 RGD:12801476
RGD:9068941
RGD:7240710
G CP ceruloplasmin JBrowse link 23 43,969,297 44,033,226 RGD:9068941
G LOX lysyl oxidase JBrowse link 11 12,023,645 12,040,015 RGD:9068941
monilethrix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT83 keratin 83 JBrowse link 27 2,746,175 2,752,472 RGD:7240710
RGD:9068941
Naxos Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JUP junction plakoglobin JBrowse link 9 21,028,773 21,053,071 RGD:7240710
RGD:9068941
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1B AT-rich interaction domain 1B JBrowse link 1 46,370,621 46,800,531 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 90,709,221 90,884,295 RGD:7240710
RGD:9068941
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN1 claudin 1 JBrowse link 34 22,303,058 22,319,101 RGD:7240710
RGD:9068941
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 28 22,241,886 22,338,418 RGD:7240710
RGD:9068941
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 17 22,680,691 22,699,999 RGD:9068941
RGD:7240710
Noonan-like Syndrome with Loose Anagen Hair term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SHOC2 SHOC2, leucine rich repeat scaffold protein JBrowse link 28 22,241,886 22,338,418 RGD:9068941
Oliver-McFarlane Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 20 52,327,547 52,349,006 RGD:7240710
RGD:9068941
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 1 60,941,772 60,944,694 RGD:7240710
RGD:9068941
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 20 50,067,749 50,093,377 RGD:7240710
RGD:9068941
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 1 110,173,781 110,191,612 RGD:7240710
RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 19 23,310,911 23,344,083 RGD:9068941
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 1 47,669,196 47,681,370 RGD:9068941
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 18 9,766,369 9,768,831 RGD:9068941
Pseudofolliculitis Barbae term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT75 keratin 75 JBrowse link 27 2,635,210 2,645,687 RGD:7240710
RGD:9068941
Schopf-Schulz-Passarge Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WNT10A Wnt family member 10A JBrowse link 37 25,463,064 25,475,407 RGD:7240710
RGD:9068941
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 20 37,592,080 37,659,783 RGD:7240710
RGD:9068941
Skin Fragility-Woolly Hair Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 35 7,479,628 7,524,732 RGD:7240710
RGD:9068941
Spondyloepimetaphyseal Dysplasia, Genevieve Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NANS N-acetylneuraminate synthase JBrowse link 11 55,286,290 55,310,904 RGD:9068941
RGD:7240710
G TRIM14 tripartite motif containing 14 JBrowse link 11 55,313,700 55,343,217 RGD:9068941
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 9 42,734,228 42,749,856 RGD:7240710
RGD:9068941
Tricho-Dento-Osseous Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DLX3 distal-less homeobox 3 JBrowse link 9 26,018,101 26,022,964 RGD:7240710
RGD:9068941
Trichohepatoenteric Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGK acylglycerol kinase JBrowse link 16 7,561,084 7,637,017 RGD:9068941
G NELFE negative elongation factor complex member E JBrowse link 12 1,406,411 1,412,387 RGD:9068941
G SKIV2L Ski2 like RNA helicase JBrowse link 12 1,412,407 1,424,521 RGD:9068941
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 3 14,027,735 14,108,224 RGD:7240710
RGD:9068941
Trichohepatoenteric Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SKIV2L Ski2 like RNA helicase JBrowse link 12 1,412,407 1,424,521 RGD:7240710
RGD:9068941
TRICHOMEGALY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF5 fibroblast growth factor 5 JBrowse link 32 4,508,810 4,529,449 RGD:7240710
RGD:9068941
trichorhinophalangeal syndrome type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACADL acyl-CoA dehydrogenase long chain JBrowse link 37 18,028,244 18,073,975 RGD:9068941
G ANXA13 annexin A13 JBrowse link 13 21,960,439 22,010,660 RGD:9068941
G ATAD2 ATPase family AAA domain containing 2 JBrowse link 13 21,667,214 21,733,028 RGD:9068941
G C13H8orf76 chromosome 13 C8orf76 homolog JBrowse link 13 21,599,283 21,619,386 RGD:9068941
G CCN3 cellular communication network factor 3 JBrowse link 13 18,507,586 18,515,755 RGD:9068941
G COL14A1 collagen type XIV alpha 1 chain JBrowse link 13 19,033,423 19,249,189 RGD:9068941
G COLEC10 collectin subfamily member 10 JBrowse link 13 18,291,168 18,331,918 RGD:9068941
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 37 18,308,164 18,428,487 RGD:9068941
G DEPTOR DEP domain containing MTOR interacting protein JBrowse link 13 18,859,526 18,993,464 RGD:9068941
G DERL1 derlin 1 JBrowse link 13 21,423,501 21,452,594 RGD:9068941
G DSCC1 DNA replication and sister chromatid cohesion 1 JBrowse link 13 18,825,522 18,841,905 RGD:9068941
G EIF3H eukaryotic translation initiation factor 3 subunit H JBrowse link 13 16,105,960 16,201,902 RGD:9068941
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 JBrowse link 13 18,586,886 18,697,339 RGD:9068941
G ERBB4 erb-b2 receptor tyrosine kinase 4 JBrowse link 37 19,029,647 20,134,576 RGD:9068941
G EXT1 exostosin glycosyltransferase 1 JBrowse link 13 17,172,497 17,457,084 RGD:9068941
G FAM83A family with sequence similarity 83 member A JBrowse link 13 21,566,083 21,590,291 RGD:9068941
G FAM84B family with sequence similarity 84 member B JBrowse link 13 24,213,085 24,217,588 RGD:9068941
G FAM91A1 family with sequence similarity 91 member A1 JBrowse link 13 22,036,518 22,082,278 RGD:9068941
G FBXO32 F-box protein 32 JBrowse link 13 21,804,442 21,838,157 RGD:9068941
G FER1L6 fer-1 like family member 6 JBrowse link 13 22,172,348 22,291,427 RGD:9068941
G HAS2 hyaluronan synthase 2 JBrowse link 13 20,310,946 20,342,647 RGD:9068941
G IKZF2 IKAROS family zinc finger 2 JBrowse link 37 20,508,647 20,662,549 RGD:9068941
G KANSL1L KAT8 regulatory NSL complex subunit 1 like JBrowse link 37 17,883,992 18,013,389 RGD:9068941
G KLHL38 kelch like family member 38 JBrowse link 13 21,928,527 21,937,245 RGD:9068941
G LANCL1 LanC like 1 JBrowse link 37 18,209,162 18,246,100 RGD:9068941
G MAL2 mal, T cell differentiation protein 2 JBrowse link 13 18,404,979 18,422,076 RGD:9068941
G MAP2 microtubule associated protein 2 JBrowse link 37 17,316,899 17,611,360 RGD:9068941
G MED30 mediator complex subunit 30 JBrowse link 13 16,928,166 16,949,503 RGD:9068941
G MRPL13 mitochondrial ribosomal protein L13 JBrowse link 13 19,266,373 19,313,754 RGD:9068941
G MTBP MDM2 binding protein JBrowse link 13 19,313,884 19,385,370 RGD:9068941
G MTSS1 MTSS1, I-BAR domain containing JBrowse link 13 22,633,001 22,794,960 RGD:9068941
G MYC MYC proto-oncogene, bHLH transcription factor JBrowse link 13 25,200,772 25,205,309 RGD:9068941
G MYL1 myosin light chain 1 JBrowse link 37 18,143,644 18,168,208 RGD:9068941
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 13 22,624,929 22,632,310 RGD:9068941
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 13 23,078,143 23,288,302 RGD:9068941
G RAD21 RAD21 cohesin complex component JBrowse link 13 16,337,563 16,368,041 RGD:9068941
G RNF139 ring finger protein 139 JBrowse link 13 22,560,180 22,572,986 RGD:9068941
G RPE ribulose-5-phosphate-3-epimerase JBrowse link 37 17,866,729 17,882,702 RGD:9068941
G SAMD12 sterile alpha motif domain containing 12 JBrowse link 13 17,525,855 17,897,153 RGD:9068941
G SLC30A8 solute carrier family 30 member 8 JBrowse link 13 16,602,255 16,637,299 RGD:9068941
G SNTB1 syntrophin beta 1 JBrowse link 13 19,394,608 19,627,278 RGD:9068941
G SPAG16 sperm associated antigen 16 JBrowse link 37 20,782,855 21,690,523 RGD:9068941
G SQLE squalene epoxidase JBrowse link 13 22,994,010 23,018,134 RGD:9068941
G TAF2 TATA-box binding protein associated factor 2 JBrowse link 13 18,724,408 18,824,025 RGD:9068941
G TATDN1 TatD DNase domain containing 1 JBrowse link 13 22,561,003 22,624,891 RGD:9068941
G TBC1D31 TBC1 domain family member 31 JBrowse link 13 21,475,094 21,543,380 RGD:9068941
G TMEM65 transmembrane protein 65 JBrowse link 13 22,426,487 22,494,520 RGD:9068941
G TNFRSF11B TNF receptor superfamily member 11b JBrowse link 13 18,155,765 18,183,263 RGD:9068941
G TRIB1 tribbles pseudokinase 1 JBrowse link 13 23,337,788 23,346,304 RGD:9068941
G TRMT12 tRNA methyltransferase 12 homolog JBrowse link 13 22,494,866 22,570,622 RGD:9068941
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 13 15,017,180 15,273,177 RGD:7240710
RGD:9068941
G UNC80 unc-80 homolog, NALCN channel complex subunit JBrowse link 37 17,648,432 17,864,915 RGD:9068941
G UTP23 UTP23, small subunit processome component JBrowse link 13 16,213,131 16,219,726 RGD:9068941
G WASHC5 WASH complex subunit 5 JBrowse link 13 23,019,422 23,078,073 RGD:9068941
G WDYHV1 WDYHV motif containing 1 JBrowse link 13 21,703,966 21,930,419 RGD:9068941
G ZHX1 zinc fingers and homeoboxes 1 JBrowse link 13 21,627,904 21,634,864 RGD:9068941
G ZHX2 zinc fingers and homeoboxes 2 JBrowse link 13 21,231,985 21,393,756 RGD:9068941
G ZNF572 zinc finger protein 572 JBrowse link 13 22,979,802 22,984,344 RGD:9068941
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 13 15,017,180 15,273,177 RGD:7240710
RGD:9068941
Uncombable Hair Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PADI3 peptidyl arginine deiminase 3 JBrowse link 2 80,966,034 80,993,937 RGD:9068941
RGD:7240710
G TCHH trichohyalin JBrowse link 17 61,095,132 61,102,663 RGD:9068941
G TGM3 transglutaminase 3 JBrowse link 24 18,753,638 18,793,780 RGD:9068941
Uncombable Hair Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGM3 transglutaminase 3 JBrowse link 24 18,753,638 18,793,780 RGD:9068941
RGD:7240710
Uncombable Hair Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TCHH trichohyalin JBrowse link 17 61,095,132 61,102,663 RGD:9068941
RGD:7240710
Woodhouse Sakati Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCAF17 DDB1 and CUL4 associated factor 17 JBrowse link 36 15,906,013 15,961,318 RGD:7240710
RGD:9068941
G METTL8 methyltransferase like 8 JBrowse link 36 15,816,518 15,906,019 RGD:9068941
Woolly Hair, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT74 keratin 74 JBrowse link 27 2,519,244 2,528,107 RGD:7240710
RGD:9068941
Woolly Hair, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT25 keratin 25 JBrowse link 9 21,940,413 21,947,487 RGD:9068941
G LPAR6 lysophosphatidic acid receptor 6 JBrowse link 22 3,110,797 3,112,973 RGD:9068941
G RB1 RB transcriptional corepressor 1 JBrowse link 22 3,061,621 3,204,625 RGD:9068941
Woolly Hair, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT25 keratin 25 JBrowse link 9 21,940,413 21,947,487 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11199
    disease of anatomical entity 10750
      integumentary system disease 2051
        hair disease 196
          Bamforth-Lazarus syndrome 3
          Bird Headed Dwarfism Montreal Type 0
          Bjornstad syndrome 1
          Brachycephaly, Trichomegaly, and Developmental Delay 1
          Catatrichy 0
          Congenital Woolly Hair + 4
          Copper Deficiency, Familial Benign 0
          Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
          Dermoodontodysplasia 0
          Ectodermal Dysplasia 4, Hair/Nail Type 3
          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 + 3
          Naxos Disease 1
          Oculotrichodysplasia 0
          Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
          Photosensitive Trichothiodystrophy 1 4
          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
          Trichohepatoenteric Syndrome 2 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 + 90
          monilethrix + 1
          superficial mycosis + 0
          tinea capitis + 0
          trichorhinophalangeal syndrome type I 58
          trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 11199
    disease of anatomical entity 10750
      nervous system disease 8289
        sensory system disease 3910
          skin disease 2051
            hair disease 196
              Bamforth-Lazarus syndrome 3
              Bird Headed Dwarfism Montreal Type 0
              Bjornstad syndrome 1
              Brachycephaly, Trichomegaly, and Developmental Delay 1
              Catatrichy 0
              Congenital Woolly Hair + 4
              Copper Deficiency, Familial Benign 0
              Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
              Dermoodontodysplasia 0
              Ectodermal Dysplasia 4, Hair/Nail Type 3
              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 + 3
              Naxos Disease 1
              Oculotrichodysplasia 0
              Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
              Photosensitive Trichothiodystrophy 1 4
              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
              Trichohepatoenteric Syndrome 2 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 + 90
              monilethrix + 1
              superficial mycosis + 0
              tinea capitis + 0
              trichorhinophalangeal syndrome type I 58
              trichorhinophalangeal syndrome type III 1
paths to the root