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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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ADULT syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
ClinVar
OMIM
PMID:24913193 PMID:25741868 PMID:28396750 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
BASAN syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO ClinVar Annotator: match by term: Basan syndrome ClinVar
OMIM
PMID:20619487 PMID:21820097 PMID:24664640 PMID:26932190 NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
JBrowse link
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome ClinVar PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28940926 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
DOORS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: DOORS syndrome
ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
ClinVar Annotator: match by term: Digitorenocerebral syndrome
OMIM
ClinVar
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar PMID:9398847 PMID:12402331 PMID:16086329 PMID:16088892 PMID:16141001 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar
OMIM
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
nonsyndromic congenital nail disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital ClinVar PMID:28504827 NCBI chr20:25,661,158...25,717,558 JBrowse link
nonsyndromic congenital nail disorder 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Twenty nail dystrophy
ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital, 1
ClinVar
OMIM
PMID:21665003 PMID:22211385 PMID:23374899 PMID:25741868 PMID:26036949 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
JBrowse link
G Slc25a16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Isolated nail anomaly ClinVar PMID:28504827 NCBI chr20:25,661,158...25,717,558 JBrowse link
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcd1 phospholipase C, delta 1 ISO OMIM NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
nonsyndromic congenital nail disorder 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Anonychia ClinVar PMID:8755915 PMID:9881948 PMID:10408773 PMID:11781296 PMID:12485454 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Anonychia ClinVar PMID:25741868 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Rspo4 R-spondin 4 ISO ClinVar Annotator: match by term: Anonychia OMIM
ClinVar
PMID:4702713 PMID:17041604 PMID:17186469 PMID:17914448 PMID:18070203 NCBI chr 3:140,357,256...140,391,780
Ensembl chr 3:140,357,424...140,388,254
JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
nonsyndromic congenital nail disorder 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED
ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital, 8
ClinVar Annotator: match by OMIM:607523
OMIM
ClinVar
PMID:7577595 PMID:8755915 PMID:9856844 PMID:10408773 PMID:10469344 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
nonsyndromic congenital nail disorder 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Onychodystrophy ClinVar PMID:8755915 PMID:9881948 PMID:10408773 PMID:11781296 PMID:12485454 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Onychodystrophy ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F ISO ClinVar Annotator: match by term: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ClinVar
OMIM
PMID:33386993 NCBI chr 6:7,589,528...7,617,721
Ensembl chr 6:7,589,570...7,639,675
JBrowse link
Schinzel-Giedion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Schinzel-Giedion syndrome
ClinVar Annotator: match by OMIM:269150
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
ClinVar Annotator: match by OMIM:614813
OMIM
ClinVar
PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 More... NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
JBrowse link
Temple-Baraitser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Temple-Baraitser syndrome
CTD
ClinVar
OMIM
PMID:18203178 PMID:20683999 PMID:23020937 PMID:24357613 PMID:25420144 More... NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar Annotator: match by term: Tooth-and-Nail Syndrome
ClinVar Annotator: match by OMIM:189500
OMIM
ClinVar
PMID:9484139 PMID:11369996 PMID:12807959 PMID:15354328 PMID:16327884 More... NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Anatomical Pathological Conditions 2002
        Malformed Nails 22
          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 1
          Cartwright Nelson Fryns Syndrome 0
          Curly Hair-Acral Keratoderma-Caries Syndrome 0
          Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
          DOORS syndrome 1
          Dermoodontodysplasia 0
          Double Nail for Fifth Toe 0
          Gorlin Bushkell Jensen Syndrome 0
          Heimler syndrome 1 3
          Hereditary Koilonychia 0
          Hypospadias-Mental Retardation Syndrome 0
          Kumar Levick Syndrome 0
          Mammary-Digital-Nail Syndrome 0
          ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
          Oculotrichodysplasia 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
          autosomal dominant congenital deafness with onychodystrophy 1
          nonsyndromic congenital nail disorder + 8
          tooth and nail syndrome 1
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            nail disease 93
              Malformed Nails 22
                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 1
                Cartwright Nelson Fryns Syndrome 0
                Curly Hair-Acral Keratoderma-Caries Syndrome 0
                Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
                DOORS syndrome 1
                Dermoodontodysplasia 0
                Double Nail for Fifth Toe 0
                Gorlin Bushkell Jensen Syndrome 0
                Heimler syndrome 1 3
                Hereditary Koilonychia 0
                Hypospadias-Mental Retardation Syndrome 0
                Kumar Levick Syndrome 0
                Mammary-Digital-Nail Syndrome 0
                ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
                Oculotrichodysplasia 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
                autosomal dominant congenital deafness with onychodystrophy 1
                nonsyndromic congenital nail disorder + 8
                tooth and nail syndrome 1
                yellow nail syndrome + 0
paths to the root