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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.

show annotations for term's descendants           Sort by:
 
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 OMIM:103285		 OMIM
ClinVar		 PMID:8456838, PMID:8737655, PMID:9443880, PMID:11462173, PMID:11528512, PMID:11929852, PMID:16114047, PMID:16724007, PMID:16740912, PMID:17041931, PMID:17431922, PMID:18603493, PMID:18626511, PMID:19530185, PMID:19781362, PMID:20543567, PMID:21204238, PMID:25741868, PMID:27469932, PMID:28492532 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501 		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
OMIM		 PMID:24913193, PMID:28396750 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155 		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 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248 		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 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200 		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 chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217 		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:23806086, PMID:24033266, PMID:24088043, PMID:24291220, PMID:24387994, PMID:25169651, PMID:25557349, PMID:25719194, PMID:25741868, PMID:25769375, PMID:26371875, PMID:27281533, PMID:28292732, PMID:28428906, PMID:28492532, PMID:30311386 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384 		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 PMID:12402331, PMID:16086329, PMID:16088892, PMID:19105186, PMID:25525159, PMID:25741868, PMID:26387595, PMID:27302843, PMID:28492532, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities		 ClinVar
OMIM		 PMID:1301993, PMID:2063923, PMID:9398847, PMID:9398848, PMID:10384394, PMID:10447258, PMID:10480353, PMID:11389485, PMID:12032265, PMID:12402331, PMID:15098231, PMID:15542397, PMID:16086329, PMID:16088892, PMID:16141001, PMID:17055079, PMID:19105186, PMID:20952722, PMID:21031596, PMID:21846392, PMID:22871920, PMID:23757202, PMID:24503136, PMID:25412400, PMID:25525159, PMID:25741868, PMID:26219880, PMID:26287655, PMID:26387595, PMID:26643206, PMID:27090541, PMID:27302843, PMID:27872819, PMID:27882258, PMID:28468868, PMID:28492532, PMID:30311386, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078 		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 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029 		JBrowse link
G Slc25a16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Isolated nail anomaly ClinVar PMID:28504827 NCBI chr20:27,283,383...27,308,069
Ensembl chr20:27,254,984...27,308,069 		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 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070 		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: Hyponychia congenita
ClinVar Annotator: match by term: Anonychia		 ClinVar PMID:8755915, PMID:9881948, PMID:10408773, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26076072, PMID:26148662, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844 		JBrowse link
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Anonychia ClinVar PMID:25741868 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723 		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 3:147,358,690...147,391,719
Ensembl chr 3:147,358,858...147,389,698 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379 		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 OMIM:607523		 OMIM
ClinVar		 PMID:7577595, PMID:8755915, PMID:9856844, PMID:10408773, PMID:10469344, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844 		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, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26076072, PMID:26148662, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Onychodystrophy ClinVar PMID:15064763, PMID:16437557, PMID:16714318, PMID:16835246, PMID:17296794, PMID:19889647, PMID:21285398, PMID:22442078, PMID:24126688, PMID:24604904, PMID:24862862, PMID:24863639, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26382835, PMID:26467025, PMID:26686600, PMID:26801520, PMID:27549087, PMID:27863451, PMID:28492532, PMID:30311386, PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		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, PMID:23222956, PMID:23832012, PMID:24033266, PMID:25028416, PMID:25217958, PMID:25663181, PMID:25741868, PMID:25852444, PMID:26467025, PMID:28346496, PMID:28492532, PMID:31680123 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306 		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, PMID:25741868 NCBI chr 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728 		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:24357613, PMID:25420144, PMID:25741868, PMID:25915598 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269 		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:21448236, PMID:23991204, PMID:25741868, PMID:28492532 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Anatomical Pathological Conditions 1525
        Malformed Nails 21
          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
          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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            nail disease 57
              Malformed Nails 21
                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
                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

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