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ONTOLOGY REPORT - ANNOTATIONS


Term:hypotrichosis
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Accession:DOID:4535 term browser browse the term
Definition:Presence of less than the normal amount of hair. (Dorland, 27th ed)
Synonyms:exact_synonym: AH;   HYPOTRICHOSIS WITH WOOLLY HAIR;   Hypotrichoses
 narrow_synonym: ARWH1;   ARWH2;   LAH3 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS;   LOCALIZED AR HYPOTRICHOSIS;   WH/HT;   hypotrichosis, autosomal recessive;   hypotrichosis, recessive
 related_synonym: Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis
 primary_id: MESH:D007039
 alt_id: OMIA:001279;   OMIM:278150;   RDO:0001088
 xref: OMIM:PS605389;   ORDO:55654
For additional species annotation, visit the Alliance of Genome Resources.


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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
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 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
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
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
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
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
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
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
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 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
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
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
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
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 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 14759
    disease of anatomical entity 13978
      integumentary system disease 2246
        hair disease 201
          hypotrichosis 94
            Basaran Yilmaz Syndrome 1
            Bazex-Dupre-Christol Syndrome 0
            Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
            Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
            Ectodermal Dysplasia, Trichoodontoonychial Type 0
            Hypotrichosis 14 1
            Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 0
            Hypotrichosis-Lymphedema-Telangiectasia Syndrome + 2
            Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
            Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
            Loucks-Innes Syndrome 1
            Nicolaides Baraitser Syndrome 2
            Rombo syndrome 0
            Schopf-Schulz-Passarge Syndrome 1
            Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
            Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
            Storm Syndrome 0
            Trichoodontoonychial Dysplasia 0
            Woolly Hair, Autosomal Recessive 3 1
            alopecia + 75
            autosomal recessive congenital ichthyosis 11 1
            congenital hypotrichosis with juvenile macular dystrophy 1
            hypotrichosis 1 3
            hypotrichosis 10 0
            hypotrichosis 11 1
            hypotrichosis 12 1
            hypotrichosis 13 1
            hypotrichosis 2 1
            hypotrichosis 3 0
            hypotrichosis 4 1
            hypotrichosis 5 0
            hypotrichosis 6 1
            hypotrichosis 7 1
            hypotrichosis 8 3
            hypotrichosis 9 0
            hypotrichosis and recurrent skin vesicles 1
            hypotrichosis of eyelid 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4233
          skin disease 2246
            hair disease 201
              hypotrichosis 94
                Basaran Yilmaz Syndrome 1
                Bazex-Dupre-Christol Syndrome 0
                Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
                Ectodermal Dysplasia, Trichoodontoonychial Type 0
                Hypotrichosis 14 1
                Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 0
                Hypotrichosis-Lymphedema-Telangiectasia Syndrome + 2
                Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
                Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
                Loucks-Innes Syndrome 1
                Nicolaides Baraitser Syndrome 2
                Rombo syndrome 0
                Schopf-Schulz-Passarge Syndrome 1
                Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
                Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
                Storm Syndrome 0
                Trichoodontoonychial Dysplasia 0
                Woolly Hair, Autosomal Recessive 3 1
                alopecia + 75
                autosomal recessive congenital ichthyosis 11 1
                congenital hypotrichosis with juvenile macular dystrophy 1
                hypotrichosis 1 3
                hypotrichosis 10 0
                hypotrichosis 11 1
                hypotrichosis 12 1
                hypotrichosis 13 1
                hypotrichosis 2 1
                hypotrichosis 3 0
                hypotrichosis 4 1
                hypotrichosis 5 0
                hypotrichosis 6 1
                hypotrichosis 7 1
                hypotrichosis 8 3
                hypotrichosis 9 0
                hypotrichosis and recurrent skin vesicles 1
                hypotrichosis of eyelid 0
paths to the root