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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: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome 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 | ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar		 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 OMIM
ClinVar		 PMID:20619487 PMID:21820097 PMID:24664640 PMID:25741868 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 PMID:25741868 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: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Deafness onychodystrophy osteodystrophy and mental retardation syndrome OMIM
ClinVar		 PMID:22211675 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 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: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C 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: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9539740 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		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
Ensembl chr20:25,662,055...25,716,319 		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: Nonsyndromic congenital nail disorder 1 OMIM
ClinVar		 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
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 ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 OMIM
ClinVar		 PMID:25741868 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: Nonsyndromic congenital nail disorder 8 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
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: SETBP1-Related Disorder | ClinVar Annotator: match by term: Schinzel-Giedion syndrome
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: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 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 OMIM
ClinVar		 PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 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 18030
    Pathological Conditions, Signs and Symptoms 11166
      Anatomical Pathological Conditions 2142
        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 4
          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 + 7
          tooth and nail syndrome 1
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            nail disease 100
              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 4
                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 + 7
                tooth and nail syndrome 1
                yellow nail syndrome + 0
paths to the root