ONTOLOGY REPORT - ANNOTATIONS


Term:Malformed Nails
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Accession:DOID:9000648 term browser browse the term
Definition:Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.
Synonyms:exact_synonym: Abnormal Nail;   Malformed Nail;   Nail Abnormalities;   Nail Abnormality;   abnormal nails;   pachyonychia
 primary_id: MESH:D009264
 alt_id: RDO:0001286
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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
anonychia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:8554872
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:8554872
RGD:11554173
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
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
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
Deafness Enamel Hypoplasia Nail Defects 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
Digitorenocerebral 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
nonsyndromic congenital nail disorder 10 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:7240710
RGD:8554872
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 Rspo4 R-spondin 4 JBrowse link 3 147,358,690 147,391,719 RGD:7240710
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
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
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 14875
    Pathological Conditions, Signs and Symptoms 7362
      Anatomical Pathological Conditions 1305
        Malformed Nails 19
          ADULT syndrome 1
          Alopecia Universalis, Onychodystrophy, Vitiligo 0
          Ameloonychohypohidrotic Syndrome 0
          Anonychia Onychodystrophy 0
          Anonychia with Flexural Pigmentation 0
          Anonychia-Ectrodactyly 0
          Basan Syndrome 1
          Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 0
          Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 0
          Cartwright Nelson Fryns Syndrome 0
          Congenital Deafness, and Onychodystrophy, Autosomal Dominant 1
          Curly Hair-Acral Keratoderma-Caries Syndrome 0
          Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
          Deafness Enamel Hypoplasia Nail Defects 3
          Dermoodontodysplasia 0
          Digitorenocerebral Syndrome 1
          Double Nail for Fifth Toe 0
          Gorlin Bushkell Jensen Syndrome 0
          Hereditary Koilonychia 0
          Hypospadias-Mental Retardation Syndrome 0
          Kumar Levick Syndrome 0
          Mammary-Digital-Nail Syndrome 0
          Oculotrichodysplasia 0
          Onycholysis, Partial, with Scleronychia 0
          Onychotrichodysplasia and Neutropenia 0
          Otoonychoperoneal Syndrome 0
          Pili Torti Onychodysplasia 0
          Pinheiro Freire-Maia Miranda Syndrome 0
          Santos Syndrome 0
          Schinzel-Giedion Syndrome 1
          Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
          Steatocystoma Multiplex with Natal Teeth 0
          Teebi Kaurah Syndrome 0
          Temple-Baraitser syndrome 1
          Tonoki Syndrome 0
          Total Anonychia with Microcephaly 0
          Ulnar Hypoplasia with Mental Retardation 0
          Zori Stalker Williams Syndrome 0
          anonychia congenita + 5
          nonsyndromic congenital nail disorder 1 0
          nonsyndromic congenital nail disorder 10 1
          nonsyndromic congenital nail disorder 8 1
          nonsyndromic congenital nail disorder 9 2
          tooth and nail syndrome 1
          yellow nail syndrome + 0
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
            nail disease 43
              Malformed Nails 19
                ADULT syndrome 1
                Alopecia Universalis, Onychodystrophy, Vitiligo 0
                Ameloonychohypohidrotic Syndrome 0
                Anonychia Onychodystrophy 0
                Anonychia with Flexural Pigmentation 0
                Anonychia-Ectrodactyly 0
                Basan Syndrome 1
                Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 0
                Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 0
                Cartwright Nelson Fryns Syndrome 0
                Congenital Deafness, and Onychodystrophy, Autosomal Dominant 1
                Curly Hair-Acral Keratoderma-Caries Syndrome 0
                Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
                Deafness Enamel Hypoplasia Nail Defects 3
                Dermoodontodysplasia 0
                Digitorenocerebral Syndrome 1
                Double Nail for Fifth Toe 0
                Gorlin Bushkell Jensen Syndrome 0
                Hereditary Koilonychia 0
                Hypospadias-Mental Retardation Syndrome 0
                Kumar Levick Syndrome 0
                Mammary-Digital-Nail Syndrome 0
                Oculotrichodysplasia 0
                Onycholysis, Partial, with Scleronychia 0
                Onychotrichodysplasia and Neutropenia 0
                Otoonychoperoneal Syndrome 0
                Pili Torti Onychodysplasia 0
                Pinheiro Freire-Maia Miranda Syndrome 0
                Santos Syndrome 0
                Schinzel-Giedion Syndrome 1
                Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
                Steatocystoma Multiplex with Natal Teeth 0
                Teebi Kaurah Syndrome 0
                Temple-Baraitser syndrome 1
                Tonoki Syndrome 0
                Total Anonychia with Microcephaly 0
                Ulnar Hypoplasia with Mental Retardation 0
                Zori Stalker Williams Syndrome 0
                anonychia congenita + 5
                nonsyndromic congenital nail disorder 1 0
                nonsyndromic congenital nail disorder 10 1
                nonsyndromic congenital nail disorder 8 1
                nonsyndromic congenital nail disorder 9 2
                tooth and nail syndrome 1
                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.