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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: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.



show annotations for term's descendants           Sort by:
 
nail disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 RGD PMID:10206641 RGD:1599846 NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by synonym: Nail disease
ClinVar Annotator: match by term: Nail disease
ClinVar PMID:21665003 PMID:22211385 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
JBrowse link
G Lama3 laminin subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12915477 NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18252230 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
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
Basaran Yilmaz Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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
Candidiasis, Familial, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321
JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2
ClinVar Annotator: match by OMIM:212050
OMIM
ClinVar
PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 More... NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,312,404...8,320,206 JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,220,446...8,226,446 JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
JBrowse link
Candidiasis, Familial, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec7a C-type lectin domain containing 7A ISO ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis OMIM
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
JBrowse link
Candidiasis, Familial, 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17f interleukin 17F ISO ClinVar Annotator: match by term: Candidiasis, familial, 6
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip2 Traf3 interacting protein 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar Annotator: match by OMIM:615527
OMIM
ClinVar
PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 More... NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25918342 PMID:28492532 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
chronic mucocutaneous candidiasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card9 caspase recruitment domain family, member 9 ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
JBrowse link
G Clec7a C-type lectin domain containing 7A ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
JBrowse link
G Il17f interleukin 17F ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482
JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
JBrowse link
G Il17rc interleukin 17 receptor C ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) RGD PMID:31784499 RGD:150340677 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD
ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 More... NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis OMIM
ClinVar
PMID:1303619 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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
ectodermal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800
JBrowse link
G Krt85 keratin 85 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type OMIM
ClinVar
PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 NCBI chr 7:132,630,184...132,636,988
Ensembl chr 7:132,630,058...132,637,049
JBrowse link
ectodermal dysplasia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type
ClinVar Annotator: match by OMIM:614931
OMIM
ClinVar
PMID:23063621 PMID:23315978 PMID:25741868 NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800
JBrowse link
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:15,088,436...15,117,666 JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr16:76,254,433...76,281,139
Ensembl chr16:76,254,413...76,281,146
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar
PMID:11851880 PMID:15810881 PMID:22854623 PMID:25712130 PMID:25741868 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr15:38,259,595...38,271,269
Ensembl chr15:38,259,928...38,270,316
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:108,256,535...108,259,429 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
immunodeficiency 31C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar Annotator: match by term: Candidiasis, familial, 7
ClinVar Annotator: match by OMIM:614162
OMIM
ClinVar
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 More... NCBI chr 9:49,419,561...49,459,969 JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar Annotator: match by OMIM:613953
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
JBrowse link
Leukonychia Totalis 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 OMIM:151600 ClinVar PMID:21665001 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
MUCOCUTANEOUS ULCERATION, CHRONIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: MUCOCUTANEOUS ULCERATION, CHRONIC ClinVar
OMIM
PMID:28600438 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
nail-patella syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb1 LIM domain binding 1 ISS OMIM:161200 MouseDO NCBI chr 1:244,864,168...244,890,007
Ensembl chr 1:244,877,173...244,890,013
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nail-patella syndrome
ClinVar Annotator: match by OMIM:161200
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:9590287 PMID:9618165 PMID:9837817 PMID:10854116 PMID:15498463 More... RGD:1599750, RGD:1599751 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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:17215403 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
pachyonychia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:85,168,357...85,171,744 JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Krt6a keratin 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,829,278...132,833,665 JBrowse link
Pachyonychia Congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Pachyonychia congenita 1
ClinVar Annotator: match by term: Pachyonychia congenita, type 1
OMIM
ClinVar
PMID:8595410 PMID:10606845 PMID:10839714 PMID:11359398 PMID:11886499 More... NCBI chr10:85,168,357...85,171,744 JBrowse link
Pachyonychia Congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Pachyonychia congenita 2
ClinVar Annotator: match by term: Pachyonychia congenita type 2
OMIM
ClinVar
PMID:2248894 PMID:3954955 PMID:7529318 PMID:9008238 PMID:9767294 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
Pachyonychia Congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt6a keratin 6A ISO ClinVar Annotator: match by term: Pachyonychia congenita 3 OMIM
ClinVar
PMID:11886499 PMID:16250206 PMID:22668561 PMID:24611874 PMID:25741868 NCBI chr 7:132,829,278...132,833,665 JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by OMIM:616295
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
ClinVar
OMIM
PMID:3527073 PMID:25683118 PMID:25741868 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ClinVar PMID:3527073 PMID:25683118 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
JBrowse link
Salcedo Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 OMIM
ClinVar
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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
steatocystoma multiplex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by OMIM:184500 OMIM
ClinVar
PMID:9008238 PMID:9767294 PMID:11886499 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia and nail dystrophy
ClinVar Annotator: match by OMIM:601705
OMIM
ClinVar
PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:16199547 More... NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link
T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
ClinVar Annotator: match by term: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT
OMIM
ClinVar
PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:18339010 More... NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
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 17256
    disease of anatomical entity 16600
      integumentary system disease 2978
        nail disease 95
          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 + 22
          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 LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT 1
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
          Trichoodontoonychial Dysplasia 0
          candidal paronychia 0
          chronic mucocutaneous candidiasis + 47
          dermatopathia pigmentosa reticularis 1
          nail-patella syndrome + 2
          pachyonychia congenita + 3
          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 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        sensory system disease 5664
          skin disease 2978
            nail disease 95
              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 + 22
              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 LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT 1
              T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
              Trichoodontoonychial Dysplasia 0
              candidal paronychia 0
              chronic mucocutaneous candidiasis + 47
              dermatopathia pigmentosa reticularis 1
              nail-patella syndrome + 2
              pachyonychia congenita + 3
              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