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ONTOLOGY REPORT - ANNOTATIONS


Term:nail disease
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Accession:DOID:4123 term browser browse the term
Definition:An integumentary system disease that is located_in nail. (DO)
Synonyms:exact_synonym: nail diseases
 primary_id: MESH:D009260
 xref: ICD10CM:L60;   ICD9CM:703
For additional species annotation, visit the Alliance of Genome Resources.


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nail disease 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:1599846
G Fzd6 frizzled class receptor 6 JBrowse link 7 77,898,329 77,931,034 RGD:8554872
G Lama3 laminin subunit alpha 3 JBrowse link 18 3,704,866 3,941,215 RGD:11554173
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:11554173
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
Basan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 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
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sash1 SAM and SH3 domain containing 1 JBrowse link 1 2,782,905 2,950,749 RGD:7240710
RGD:8554872
Candidiasis, Familial, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:7240710
RGD:8554872
Candidiasis, Familial, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clec7a C-type lectin domain containing 7A JBrowse link 4 163,216,152 163,227,367 RGD:7240710
RGD:8554872
Candidiasis, Familial, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17f interleukin 17F JBrowse link 9 26,885,702 26,897,219 RGD:7240710
RGD:8554872
Candidiasis, Familial, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traf3ip2 Traf3 interacting protein 2 JBrowse link 20 44,679,861 44,722,874 RGD:7240710
RGD:8554872
Candidiasis, Familial, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17rc interleukin 17 receptor C JBrowse link 4 145,426,647 145,439,845 RGD:8554872
RGD:7240710
G Il17re interleukin 17 receptor E JBrowse link 4 145,413,157 145,426,608 RGD:8554872
G Jagn1 jagunal homolog 1 JBrowse link 4 145,399,885 145,404,605 RGD:8554872
chronic mucocutaneous candidiasis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:13592920
RGD:8554872
G Clec7a C-type lectin domain containing 7A JBrowse link 4 163,216,152 163,227,367 RGD:13592920
G Il17f interleukin 17F JBrowse link 9 26,885,702 26,897,219 RGD:13592920
G Il17ra interleukin 17 receptor A JBrowse link 4 152,995,865 153,018,394 RGD:13592920
RGD:8554872
G Il17rc interleukin 17 receptor C JBrowse link 4 145,426,647 145,439,845 RGD:13592920
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:11554173
RGD:8554872
G Traf3ip2 Traf3 interacting protein 2 JBrowse link 20 44,679,861 44,722,874 RGD:13592920
Congenital Deafness, and Onychodystrophy, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 JBrowse link 16 22,326,537 22,350,143 RGD:8554872
RGD:7240710
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
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
DOORS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
ectodermal dysplasia 4 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
ectodermal dysplasia 9 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
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap10 Rho GTPase activating protein 10 JBrowse link 19 34,138,978 34,406,593 RGD:8554872
G Bclaf1 BCL2-associated transcription factor 1 JBrowse link 1 15,799,753 15,828,838 RGD:8554872
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 JBrowse link 16 81,008,177 81,034,869 RGD:8554872
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Gpr33 G protein-coupled receptor 33 JBrowse link 6 72,804,843 72,805,848 RGD:8554872
G Hrnr hornerin JBrowse link 2 193,626,283 193,639,848 RGD:8554872
G Ids iduronate 2-sulfatase JBrowse link 8 69,447,971 69,466,708 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Rp1l1 RP1 like 1 JBrowse link 15 47,344,380 47,384,461 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
Heimler syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:7240710
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
Immunodeficiency 31C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:7240710
RGD:8554872
Immunodeficiency 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17ra interleukin 17 receptor A JBrowse link 4 152,995,865 153,018,394 RGD:7240710
RGD:8554872
Leukonychia Totalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcd1 phospholipase C, delta 1 JBrowse link 8 127,753,514 127,782,070 RGD:8554872
MUCOCUTANEOUS ULCERATION, CHRONIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:8554872
RGD:7240710
nail-patella syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb1 LIM domain binding 1 JBrowse link 1 265,772,729 265,798,442 RGD:13592920
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link 3 12,608,748 12,686,937 RGD:1599750
RGD:8554872
RGD:1599751
RGD:7240710
RGD:11554173
nonsyndromic congenital nail disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd6 frizzled class receptor 6 JBrowse link 7 77,898,329 77,931,034 RGD:8554872
RGD:7240710
G Slc25a16 solute carrier family 25 member 16 JBrowse link 20 27,283,383 27,308,069 RGD:8554872
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcd1 phospholipase C, delta 1 JBrowse link 8 127,753,514 127,782,070 RGD:7240710
nonsyndromic congenital nail disorder 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:8554872
G Rspo4 R-spondin 4 JBrowse link 3 147,358,690 147,391,719 RGD:7240710
RGD:8554872
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
nonsyndromic congenital nail disorder 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
nonsyndromic congenital nail disorder 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
pachyonychia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:11554173
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:11554173
RGD:8554872
Pachyonychia Congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:7240710
RGD:8554872
Pachyonychia Congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:7240710
RGD:8554872
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:8554872
RGD:7240710
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 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
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
Schinzel-Giedion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:7240710
RGD:8554872
RGD:11554173
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
steatocystoma multiplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 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
Temple-Baraitser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnh1 potassium voltage-gated channel subfamily H member 1 JBrowse link 13 110,920,712 111,232,291 RGD:11554173
RGD:8554872
RGD:7240710
tooth and nail syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      integumentary system disease 2654
        nail disease 56
          Al Gazali Hirschsprung Syndrome 0
          Basaran Yilmaz Syndrome 1
          Brachydactyly Type A5 Nail Dysplasia 0
          Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
          Double Nail for Fifth Toe 0
          Epidermolysis Bullosa Simplex with Nail Dystrophy 10
          FLOTCH Syndrome 0
          Hooft Disease 0
          Ingrown Nails 0
          Judge Misch Wright Syndrome 0
          Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
          Leukonychia Totalis + 3
          Malformed Nails + 21
          Odontomicronychial Dysplasia 0
          Onycholysis + 2
          Palmoplantar Keratoderma, Spastic Paralysis 0
          Patel Bixler Syndrome 0
          Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
          Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
          Subungual Exostoses 0
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
          Trichoodontoonychial Dysplasia 0
          candidal paronychia 0
          chronic mucocutaneous candidiasis + 10
          dermatopathia pigmentosa reticularis 1
          nail-patella syndrome + 2
          pachyonychia congenita + 2
          paronychia 0
          photosensitive trichothiodystrophy 1 3
          pure hair and nail ectodermal dysplasia + 2
          tinea favosa 0
          tinea unguium 0
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          skin disease 2654
            nail disease 56
              Al Gazali Hirschsprung Syndrome 0
              Basaran Yilmaz Syndrome 1
              Brachydactyly Type A5 Nail Dysplasia 0
              Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
              Double Nail for Fifth Toe 0
              Epidermolysis Bullosa Simplex with Nail Dystrophy 10
              FLOTCH Syndrome 0
              Hooft Disease 0
              Ingrown Nails 0
              Judge Misch Wright Syndrome 0
              Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
              Leukonychia Totalis + 3
              Malformed Nails + 21
              Odontomicronychial Dysplasia 0
              Onycholysis + 2
              Palmoplantar Keratoderma, Spastic Paralysis 0
              Patel Bixler Syndrome 0
              Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
              Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
              Subungual Exostoses 0
              T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
              Trichoodontoonychial Dysplasia 0
              candidal paronychia 0
              chronic mucocutaneous candidiasis + 10
              dermatopathia pigmentosa reticularis 1
              nail-patella syndrome + 2
              pachyonychia congenita + 2
              paronychia 0
              photosensitive trichothiodystrophy 1 3
              pure hair and nail ectodermal dysplasia + 2
              tinea favosa 0
              tinea unguium 0
              yellow nail syndrome + 0
paths to the root

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