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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:hair disease
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Accession:DOID:421 term browser browse the term
Definition:Diseases affecting the orderly growth and persistence of hair.
Synonyms:exact_synonym: hair diseases
 primary_id: MESH:D006201;   RDO:0000413
 xref: NCI:C34656
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hair disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
JBrowse link
G Krt81 keratin 81 susceptibility ISO protein:mutation: ; E403K; monilethrix, OMIM:158000 RGD PMID:9402962 RGD:1600197 NCBI chr 7:143,107,901...143,113,006
Ensembl chr 7:143,107,901...143,112,960
JBrowse link
G Krt86 keratin 86 susceptibility ISO protein:mutations: ; E410K, E410D; monilethrix, OMIM:158000 RGD PMID:9241275 RGD:1600198 NCBI chr 7:143,122,285...143,128,932
Ensembl chr 7:143,122,269...143,128,932
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684605 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15902657 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Alopecia ClinVar PMID:30311386 NCBI chr 6:27,835,346...27,919,285
Ensembl chr 6:27,887,797...27,915,563
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:dermal papilla: RGD PMID:21729031 RGD:8657081 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25242322 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Cdsn corneodesmosin ISO hypotrichosis simplex of the scalp, OMIM:146520 RGD PMID:12754508 RGD:1599783 NCBI chr20:3,704,626...3,707,266 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr  X:39,711,001...39,953,860
Ensembl chr  X:39,711,201...39,951,847
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Baldness ClinVar PMID:12787275, PMID:22266148, PMID:25741868, 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 Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Esr2 estrogen receptor 2 no_association
susceptibility
ISO DNA:snps:multiple (human)
DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human)
RGD PMID:22509838, PMID:22014031 RGD:8694094, RGD:8694095 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Far2 fatty acyl CoA reductase 2 ISS OMIM:300042 MouseDO NCBI chr 4:182,446,400...182,563,485
Ensembl chr 4:182,483,194...182,565,436
JBrowse link
G Foxn1 forkhead box N1 ISO T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 RGD PMID:10206641 RGD:1599846 NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO alopecia universalis congenita, OMIM:203655
CTD Direct Evidence: marker/mechanism
CTD PMID:16455232, PMID:9736769 RGD:1599575 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:plasma:
protein:decreased secretion:dermal papilla:
RGD PMID:10827403, PMID:24499417 RGD:8549462, RGD:8549500 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Baldness 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
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 7:71,294,140...71,356,153
Ensembl chr 7:71,293,388...71,356,153
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) RGD PMID:7573371 RGD:7387278
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17136762 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:32,057,530...32,080,170
Ensembl chr20:32,057,454...32,080,088
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tpmt thiopurine S-methyltransferase ISO RGD PMID:24322830 RGD:11038725 NCBI chr17:18,029,090...18,047,716
Ensembl chr17:18,029,124...18,047,714
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1338926, PMID:22466564, PMID:11713240 RGD:8157637 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044
JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:85,380,088...85,382,565
Ensembl chr 1:85,380,088...85,382,569
JBrowse link
alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20596022, PMID:23567921 RGD:7411701 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:139,280,396...139,319,108
Ensembl chr 7:139,281,187...139,318,455
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 7:3,061,422...3,098,142
Ensembl chr 7:3,061,469...3,074,359
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8077705 RGD:6909137 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574, PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:222,164,462...222,167,447
Ensembl chr 1:222,164,462...222,167,447
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 severity ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16829308 RGD:6484734 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:63,866,346...63,926,276
Ensembl chr 5:63,870,432...63,922,730
JBrowse link
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Alopecia congenita keratosis palmoplantaris ClinVar PMID:25168385 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
alopecia universalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Alopecia universalis congenita
ClinVar Annotator: match by OMIM:203655
OMIM
ClinVar
PMID:8790387, PMID:9445480, PMID:9736769, PMID:9758627, PMID:11410842, PMID:11641275, PMID:11966690, PMID:12406339, PMID:17609203, PMID:20087431, PMID:20512917, PMID:21747609, PMID:21919222, PMID:22584530, PMID:23548463, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum RGD PMID:20671941 RGD:7829773 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115, PMID:17710875, PMID:18049083, PMID:18175354, PMID:18414213, PMID:19026396, PMID:20507343, PMID:21044051, PMID:24015686, PMID:24088041, PMID:25326637, PMID:25741868, PMID:26612766, PMID:26633545, PMID:26664771, PMID:28492532, PMID:29546359 NCBI chr 3:57,646,799...57,678,802
Ensembl chr 3:57,646,811...57,673,418
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:17710875, PMID:19026396, PMID:26612766, PMID:28492532 NCBI chr 3:57,257,394...57,642,096 JBrowse link
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Alopecia, neurologic defects, and endocrinopathy syndrome
ClinVar Annotator: match by OMIM:612079
OMIM
ClinVar
PMID:18439547 NCBI chr 4:56,398,769...56,438,442
Ensembl chr 4:56,398,769...56,438,465
JBrowse link
alopecia-mental retardation syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 ClinVar
OMIM
PMID:28054173 NCBI chr11:81,711,269...81,717,594 JBrowse link
Alopecia-Mental Retardation Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: ALOPECIA-MENTAL RETARDATION SYNDROME 4 OMIM
ClinVar
PMID:30401459, PMID:30723320 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
ClinVar Annotator: match by OMIM:612132
OMIM
ClinVar
PMID:14523047, PMID:15337789, PMID:17931563, PMID:18412279, PMID:23708964, PMID:23864385, PMID:23870671, PMID:24033266, PMID:25741868, PMID:26888281, PMID:27577878, PMID:28417298, PMID:28492532, PMID:29948576 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
atrichia with papular lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Atrichia with papular lesions
ClinVar Annotator: match by OMIM:209500
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8790387, PMID:9445480, PMID:9736769, PMID:9758627, PMID:9856480, PMID:9880231, PMID:9892925, PMID:10051399, PMID:10205263, PMID:10469319, PMID:11410842, PMID:11966690, PMID:12271294, PMID:17609203, PMID:20087431, PMID:20512917, PMID:21747609, PMID:21919222, PMID:22584530, PMID:23548463, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 11
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9450882, PMID:12207612, PMID:17273967, PMID:18445049, PMID:18843291 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
Autosomal Recessive Woolly Hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:87,225,361...87,238,659
Ensembl chr10:87,225,343...87,232,723
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Autosomal recessive woolly hair
ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
ClinVar PMID:18297072, PMID:18461368, PMID:21426374 NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS ClinVar PMID:18297072, PMID:21426374 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
autosomal recessive woolly hair 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO ClinVar Annotator: match by term: Autosomal Recessive Hypotrichosis with Woolly Hair
ClinVar Annotator: match by OMIM:616760
ClinVar
OMIM
PMID:24824130, PMID:26160856, PMID:26902920 NCBI chr10:87,225,361...87,238,659
Ensembl chr10:87,225,343...87,232,723
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
OMIM
ClinVar
CTD
PMID:2918525, PMID:9697705, PMID:12165566, PMID:16882747, PMID:16884476, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome ClinVar
OMIM
PMID:1867254, PMID:8368246, PMID:9674915, PMID:16650233, PMID:19760652, PMID:20799330, PMID:20830793, PMID:26119818 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers 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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Pili torti-deafness syndrome
ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency
ClinVar Annotator: match by term: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
ClinVar Annotator: match by OMIM:262000
OMIM
ClinVar
PMID:9545407, PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:19389488, PMID:19508421, PMID:20518024, PMID:21274865, PMID:22277166, PMID:24172246, PMID:25741868, PMID:25895478, PMID:25914718, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: MACINNES SYNDROME ClinVar
OMIM
PMID:28257692 NCBI chr 2:19,823,234...19,824,804
Ensembl chr 2:19,823,234...19,824,804
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers 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
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605676
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
OMIM
ClinVar
CTD
PMID:8769422, PMID:10594734, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16061754, PMID:16175511, PMID:16467215, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20738328, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21193976, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22795705, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25344691, PMID:25351510, PMID:25447171, PMID:25516398, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26148547, PMID:26187847, PMID:26220970, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26688388, PMID:26735901, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27194543, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27698334, PMID:27707468, PMID:27831900, PMID:27884173, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29062697, PMID:29247119, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29892087, PMID:29915097, PMID:30165862, PMID:30311386, PMID:30354334, PMID:30382575, PMID:30820396, PMID:30919684, PMID:30975432, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
Central Centrifugal Cicatricial Alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 5:159,309,000...159,336,429
Ensembl chr 5:159,309,000...159,336,429
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: CARASIL
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251, PMID:18316707, PMID:19387015, PMID:21115960, PMID:21482952, PMID:22900900, PMID:23963851, PMID:24500651, PMID:24535794, PMID:25741868, PMID:25770224, PMID:25772074, PMID:25957642, PMID:26063658, PMID:26467025, PMID:27164673, PMID:32101834, PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO
ISS
ClinVar Annotator: match by term: Coffin-Siris syndrome
OMIM:135900
ClinVar
MouseDO
PMID:25741868 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
ClinVar Annotator: match by term: Coffin-Siris syndrome
DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:24674232 RGD:11526783 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:18414213, PMID:24728327, PMID:25741868, PMID:26353884, PMID:27701467, PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308, PMID:25741868 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
ClinVar
OMIM
PMID:6499251, PMID:11170086, PMID:15057123, PMID:16691594, PMID:18414213, PMID:20086098, PMID:21801163, PMID:22405089, PMID:22426308, PMID:22426309, PMID:23906836, PMID:23929686, PMID:24267886, PMID:24569609, PMID:24674232, PMID:25169814, PMID:25326635, PMID:25363768, PMID:25674384, PMID:25741868, PMID:25741869, PMID:26350204, PMID:26376624, PMID:26395437, PMID:27389779, PMID:27570168, PMID:28323383, PMID:28492532, PMID:28708303, PMID:28867767, PMID:31132234 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868, PMID:29429572 NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787, PMID:22426308, PMID:22426309, PMID:25724810, PMID:25741868 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
Coffin-Siris Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 10 OMIM
ClinVar
PMID:30661772 NCBI chr17:37,615,022...37,619,728 JBrowse link
Coffin-Siris Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11 OMIM
ClinVar
PMID:30879640 NCBI chr 7:141,355,623...141,366,725
Ensembl chr 7:141,355,994...141,366,732
JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14
ClinVar Annotator: match by OMIM:614607
OMIM
ClinVar
PMID:18414213, PMID:22426308, PMID:23010866, PMID:23556151, PMID:23637025, PMID:23906836, PMID:23929686, PMID:25168959, PMID:25169878, PMID:25326635, PMID:25741868, PMID:28262751, PMID:30123105 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15
ClinVar Annotator: match by OMIM:614608
OMIM
ClinVar
PMID:11161377, PMID:22426308, PMID:22726846, PMID:23196062, PMID:23637025, PMID:23815551, PMID:23906836, PMID:23929686, PMID:24993163, PMID:25168959, PMID:25169651, PMID:25326635, PMID:25462860, PMID:25741868, PMID:25981829, PMID:26364901, PMID:26987750, PMID:28177878, PMID:28492532, PMID:29230670 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 16
ClinVar Annotator: match by OMIM:614609
OMIM
ClinVar
PMID:20137775, PMID:22426308, PMID:23637025, PMID:23775540, PMID:23815551, PMID:23929686, PMID:24658001, PMID:25326635, PMID:25741868, PMID:28492532, PMID:28608987 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
Coffin-Siris Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Coffin-siris syndrome 5
ClinVar Annotator: match by term: Coffin-Siris syndrome 5
ClinVar
OMIM
PMID:22426308, PMID:23906836, PMID:25741868 NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6 ClinVar
OMIM
PMID:25741868, PMID:26238514, PMID:28124119, PMID:28884947 NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655
JBrowse link
Coffin-Siris Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 7 ClinVar
OMIM
PMID:25741868, PMID:29429572 NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
JBrowse link
Coffin-Siris Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 8 OMIM
ClinVar
PMID:25590979, PMID:25741868, PMID:27620904, PMID:30580808 NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453
JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 27 ClinVar
OMIM
PMID:24886874, PMID:25741868, PMID:32860008 NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
JBrowse link
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by OMIM:615508 OMIM
ClinVar
PMID:23974871 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by OMIM:601553
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11544476, PMID:12445216 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12858176 RGD:1625067 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25526675, PMID:12858176 RGD:1625067 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 ClinVar
OMIM
PMID:10522997, PMID:11150889, PMID:12858176, PMID:15827106, PMID:16091483, PMID:16817821, PMID:17062770, PMID:18628520, PMID:25741868 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by OMIM:614662 OMIM
ClinVar
PMID:21325058 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name Qualifiers 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
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by OMIM:614564 OMIM
ClinVar
PMID:22341969 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by OMIM:125595 OMIM
ClinVar
PMID:1303619, PMID:16960809 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:16628197, PMID:16774985, PMID:20940358, PMID:21606396, PMID:22795705, PMID:22949226, PMID:24033266, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar
OMIM
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:8696334 RGD:1598881 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,560,200...66,602,509
Ensembl chr  X:66,561,286...66,602,506
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:25741868 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:129490
ClinVar
OMIM
PMID:10431241, PMID:11035039, PMID:15013427, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18854857, PMID:20236127, PMID:20979233, PMID:23401279, PMID:24033266, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532, PMID:10431241 RGD:1598883 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:129490
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17354266 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:224900
OMIM
ClinVar
PMID:10431241, PMID:11035039, PMID:11279189, PMID:15013427, PMID:15373768, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18816645, PMID:20236127, PMID:20979233, PMID:21771270, PMID:22032522, PMID:23401279, PMID:23991204, PMID:24641098, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:224900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by OMIM:614940
OMIM
ClinVar
PMID:17354266, PMID:20222921, PMID:20979233, PMID:21626677, PMID:25741868, PMID:28492532 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:614941 OMIM
ClinVar
PMID:9245989, PMID:11780064, PMID:17354266, PMID:26991760 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE ClinVar
OMIM
PMID:27838789 NCBI chr 5:151,740,902...151,752,863
Ensembl chr 5:151,741,817...151,752,597
JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE OMIM
ClinVar
PMID:30425301 NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
JBrowse link
ectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers 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 7:144,531,814...144,538,298
Ensembl chr 7:144,531,814...144,537,966
JBrowse link
G Krt85 keratin 85 ISO OMIM NCBI chr 7:143,160,480...143,167,828
Ensembl chr 7:143,161,235...143,167,772
JBrowse link
ectodermal dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO ClinVar Annotator: match by OMIM:614931 OMIM
ClinVar
PMID:23063621, PMID:23315978 NCBI chr 7:144,531,814...144,538,298
Ensembl chr 7:144,531,814...144,537,966
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME OMIM
ClinVar
PMID:25741868, PMID:30290154 NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
JBrowse link
Facial Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Facial hypertrichosis ClinVar PMID:32581362 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
familial isolated trichomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr10:46,768,539...46,783,889
Ensembl chr10:46,768,539...46,783,889
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dip2b disco-interacting protein 2 homolog B ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 7:141,702,034...141,878,945
Ensembl chr 7:141,702,038...141,879,951
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: Trichomegaly OMIM
ClinVar
PMID:24989505 NCBI chr14:12,974,921...12,996,046
Ensembl chr14:12,974,921...12,995,584
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:24829207, PMID:30311386 NCBI chr 6:91,455,333...91,456,709
Ensembl chr 6:91,455,333...91,456,696
Ensembl chr 3:91,455,333...91,456,696
Ensembl chr 7:91,455,333...91,456,696
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
JBrowse link
familial woolly hair syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Liph lipase H ISO CTD Direct Evidence: marker/mechanism CTD PMID:23066499 NCBI chr11:82,680,167...82,732,145 JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11017806, PMID:11106354, PMID:11137991, PMID:16319823, PMID:19692347, PMID:22140057, PMID:22829454, PMID:24668755, PMID:25741868 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis ClinVar
OMIM
PMID:24831815 NCBI chr10:98,573,226...98,645,028
Ensembl chr10:98,576,039...98,644,938
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar
OMIM
PMID:9180938, PMID:9298746, PMID:23602711, PMID:24033266, PMID:25045128, PMID:23602711 RGD:9684854 NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
JBrowse link
Hairy Elbows term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Hypertrichosis cubiti ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
Hirsutism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
JBrowse link
hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:30311386 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:8650226, PMID:9443875, PMID:9443878, PMID:9832037, PMID:9950362, PMID:11153910, PMID:14984474, PMID:25741868, PMID:26907177, PMID:28492532, PMID:30809705 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:30311386 NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477, PMID:20140240 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:239850
OMIM
ClinVar
CTD
PMID:10398267, PMID:16835932, PMID:18414213, PMID:20474083, PMID:20890277, PMID:21344641, PMID:22608503, PMID:22610116, PMID:23307537, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25326635, PMID:25590979, PMID:25741868, PMID:26871653, PMID:26938784, PMID:27316244, PMID:28492532, PMID:28842488 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842488 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
MouseDO
ClinVar
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:31028034 RGD:14398763 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,560,200...66,602,509
Ensembl chr  X:66,561,286...66,602,506
JBrowse link
G Edar ectodysplasin-A receptor ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
PMID:18065779, PMID:18561327, PMID:18704500, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28808699 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain IAGP
ISO
DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar PMID:20222921, PMID:20979233, PMID:21626677, PMID:25741868, PMID:28492532, PMID:22013926 RGD:14398762 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:91,252,829...91,271,607
Ensembl chr 3:91,252,829...91,271,607
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 ISO
IAGP
DNA:deletion
DNA:missense mutation
RGD PMID:15191570, PMID:15081105 RGD:1599796, RGD:1302434 NCBI chr18:12,056,113...12,092,858
Ensembl chr18:12,056,113...12,092,858
JBrowse link
G Krt71 keratin 71 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:143,345,201...143,371,346
Ensembl chr 7:143,345,201...143,353,925
JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by OMIM:604379
ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18445047, PMID:18830268, PMID:19365138, PMID:19892526, PMID:20213768, PMID:21352330, PMID:21426374, PMID:22449147, PMID:23066499, PMID:23590372, PMID:24033266, PMID:24722066, PMID:25201209, PMID:25271093, PMID:25741868, PMID:25899282 NCBI chr11:82,680,167...82,732,145 JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:18297072 NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Rpl21 ribosomal protein L21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:9,996,919...9,999,998
Ensembl chr 3:91,870,208...91,870,690
Ensembl chr12:91,870,208...91,870,690
Ensembl chr  X:91,870,208...91,870,690
Ensembl chr13:91,870,208...91,870,690
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
hypotrichosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apcdd1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605389
OMIM
CTD
ClinVar
PMID:10878665, PMID:20393562, PMID:22512811 NCBI chr18:58,270,398...58,300,982
Ensembl chr18:58,270,410...58,301,002
JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Hereditary hypotrichosis simplex ClinVar PMID:18830268, PMID:19892526, PMID:20213768, PMID:21352330, PMID:22449147, PMID:23590372, PMID:24033266, PMID:24722066, PMID:25201209, PMID:25271093, PMID:25741868, PMID:25899282 NCBI chr11:82,680,167...82,732,145 JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297070 NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO DNA:snp:cds:c.1A>G (human) RGD PMID:23246290 RGD:10768831 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
hypotrichosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by OMIM:615059 OMIM
ClinVar
PMID:9621144, PMID:23246290 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
hypotrichosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl21 ribosomal protein L21 ISO ClinVar Annotator: match by term: Hypotrichosis 12 ClinVar
OMIM
PMID:19751230, PMID:21412954 NCBI chr12:9,996,919...9,999,998
Ensembl chr 3:91,870,208...91,870,690
Ensembl chr12:91,870,208...91,870,690
Ensembl chr  X:91,870,208...91,870,690
Ensembl chr13:91,870,208...91,870,690
JBrowse link
hypotrichosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt71 keratin 71 ISO ClinVar Annotator: match by term: Hypotrichosis 13 ClinVar
OMIM
PMID:22592156 NCBI chr 7:143,345,201...143,371,346
Ensembl chr 7:143,345,201...143,353,925
JBrowse link
hypotrichosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPOTRICHOSIS 14 ClinVar
OMIM
PMID:30401459 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
hypotrichosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdsn corneodesmosin ISO ClinVar Annotator: match by OMIM:146520 OMIM
ClinVar
PMID:3652491, PMID:10793007, PMID:12754508 NCBI chr20:3,704,626...3,707,266 JBrowse link
hypotrichosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Hypotrichosis 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:146550
OMIM
ClinVar
CTD
PMID:10777357, PMID:10854110, PMID:11069461, PMID:17680008, PMID:19122663, PMID:19897589, PMID:20659777, PMID:20814945 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
hypotrichosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8l3 EPS8 like 3 ISO ClinVar Annotator: match by term: Hypotrichosis 5 OMIM
ClinVar
PMID:15347323, PMID:23099647, PMID:25741868 NCBI chr 2:210,668,249...210,681,930
Ensembl chr 2:210,668,403...210,681,796
JBrowse link
hypotrichosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Hypotrichosis 6 OMIM
ClinVar
PMID:12705872, PMID:16439973, PMID:16543896, PMID:16575393, PMID:17392831, PMID:25741868, PMID:28492532 NCBI chr18:12,056,113...12,092,858
Ensembl chr18:12,056,113...12,092,858
JBrowse link
hypotrichosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Liph lipase H ISO ClinVar Annotator: match by term: Hypotrichosis 7 ClinVar
OMIM
PMID:17095700, PMID:17333281, PMID:18445047, PMID:18830268, PMID:19365138, PMID:19892526, PMID:20213768, PMID:21352330, PMID:21426374, PMID:22449147, PMID:23590372, PMID:24033266, PMID:24722066, PMID:25201209, PMID:25271093, PMID:25741868, PMID:25899282 NCBI chr11:82,680,167...82,732,145 JBrowse link
hypotrichosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 ClinVar PMID:24824130, PMID:26160856 NCBI chr10:87,225,361...87,238,659
Ensembl chr10:87,225,343...87,232,723
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO
ISS
ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3
ClinVar Annotator: match by term: Hypotrichosis 8
OMIM:278150
ClinVar
MouseDO
PMID:18297070, PMID:18297072, PMID:18461368, PMID:21070332, PMID:21426374, PMID:25119526 NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3
ClinVar Annotator: match by term: Hypotrichosis 8
ClinVar PMID:18297070, PMID:18297072, PMID:18461368, PMID:21070332, PMID:21426374, PMID:25119526 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
hypotrichosis and recurrent skin vesicles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by OMIM:613102 ClinVar
OMIM
PMID:19765682 NCBI chr18:11,753,047...11,789,846
Ensembl chr18:11,753,047...11,789,708
JBrowse link
hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human)
ClinVar Annotator: match by OMIM:607823
ClinVar
OMIM
PMID:11701398, PMID:12740761, PMID:24697860, PMID:26148450, PMID:12740761 RGD:1599075 NCBI chr 3:177,177,237...177,179,039
Ensembl chr 3:177,177,310...177,179,127
JBrowse link
G Tcea2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome ClinVar PMID:11701398, PMID:12740761, PMID:24697860, PMID:26148450 NCBI chr 3:177,187,686...177,195,898
Ensembl chr 3:177,188,044...177,195,894
JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar
OMIM
PMID:2484451, PMID:12740761, PMID:24697860, PMID:25741868, PMID:29307792 NCBI chr 3:177,177,237...177,179,039
Ensembl chr 3:177,177,310...177,179,127
JBrowse link
G Tcea2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar PMID:2484451, PMID:12740761, PMID:24697860, PMID:25741868, PMID:29307792 NCBI chr 3:177,187,686...177,195,898
Ensembl chr 3:177,188,044...177,195,894
JBrowse link
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP SYNDROME 2 OMIM
ClinVar
PMID:32497488 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
ClinVar Annotator: match by OMIM:308205
OMIM
ClinVar
PMID:10694306, PMID:19361614, PMID:21426410, PMID:22105905, PMID:24313295, PMID:25741868 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link
Loucks-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
ClinVar
OMIM
PMID:14744934, PMID:24895408, PMID:25558065, PMID:25741868, PMID:26220823 NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613075
OMIM
ClinVar
PMID:19631308, PMID:20424861, PMID:20954239, PMID:24449201, PMID:25741868, PMID:28492532 NCBI chr 3:139,871,330...140,087,679
Ensembl chr 3:139,894,331...140,087,678
JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia ClinVar
OMIM
PMID:16116593, PMID:20583178, PMID:25772936 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:
ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive
ClinVar Annotator: match by term: Menkes disease, mild
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons, introns:p.G876delX2 (human)
DNA:mutations:multiple (human)
DNA:deletion:cds:p.A799_L800del (mouse)
DNA:snp:intron:c.4268+3A>T (human)
ClinVar Annotator: match by OMIM:309400
ClinVar
CTD
OMIM
PMID:7842019, PMID:7977350, PMID:8812725, PMID:8981948, PMID:9246006, PMID:9894833, PMID:10319589, PMID:10570920, PMID:10739752, PMID:11092760, PMID:11157799, PMID:11241493, PMID:11350187, PMID:12221109, PMID:12228238, PMID:12676902, PMID:14579150, PMID:14635105, PMID:15372525, PMID:15923132, PMID:16083905, PMID:16435190, PMID:16824500, PMID:16826513, PMID:17003121, PMID:17009961, PMID:17108763, PMID:17483305, PMID:17496194, PMID:17717039, PMID:18414213, PMID:18779302, PMID:19153371, PMID:19194885, PMID:19888294, PMID:20045993, PMID:20170900, PMID:20301586, PMID:20652413, PMID:20831904, PMID:21208200, PMID:21242307, PMID:21494555, PMID:21667063, PMID:22130675, PMID:22210628, PMID:22455587, PMID:22664332, PMID:22695177, PMID:22728746, PMID:22815746, PMID:22981378, PMID:23064757, PMID:23281160, PMID:24002164, PMID:24033266, PMID:24627433, PMID:24919650, PMID:25003971, PMID:25247420, PMID:25741868, PMID:26117549, PMID:26199316, PMID:28119449, PMID:28251916, PMID:28451781, PMID:28492532, PMID:30311386, PMID:31319225, PMID:32005694, PMID:10739752, PMID:22074552, PMID:20497190, PMID:21208200, PMID:9215672, PMID:7842019 RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Lox lysyl oxidase ISO
ISS
OMIM:309400 MouseDO PMID:8638917 RGD:1581895 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars cysteinyl-tRNA synthetase ISO ClinVar Annotator: match by term: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ClinVar
OMIM
PMID:30824121 NCBI chr 1:216,759,367...216,801,652
Ensembl chr 1:216,759,366...216,801,656
JBrowse link
monilethrix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt81 keratin 81 ISO ClinVar Annotator: match by term: Monilethrix
ClinVar Annotator: match by OMIM:158000
OMIM
ClinVar
PMID:7556444, PMID:9402962, PMID:9665406, PMID:25326635, PMID:25741868 NCBI chr 7:143,107,901...143,113,006
Ensembl chr 7:143,107,901...143,112,960
JBrowse link
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: Nodose hair
ClinVar Annotator: match by term: Monilethrix
ClinVar Annotator: match by OMIM:158000
OMIM
ClinVar
PMID:15744029, PMID:25557232, PMID:25741868, PMID:30311386 NCBI chr 7:143,078,996...143,085,833
Ensembl chr 7:143,078,996...143,085,833
JBrowse link
G Krt86 keratin 86 ISO ClinVar Annotator: match by term: Monilethrix
ClinVar Annotator: match by OMIM:158000
OMIM
ClinVar
PMID:7556444, PMID:9241275, PMID:9402962, PMID:9457912, PMID:9665406, PMID:9804356, PMID:10469314, PMID:10594761, PMID:10878478, PMID:15050877, PMID:15744029, PMID:19400537, PMID:25326635, PMID:25741868 NCBI chr 7:143,122,285...143,128,932
Ensembl chr 7:143,122,269...143,128,932
JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Naxos disease
ClinVar Annotator: match by OMIM:601214
OMIM
ClinVar
PMID:10902626, PMID:18672408, PMID:18937352, PMID:19067702, PMID:19863551, PMID:20031617, PMID:20130592, PMID:20525856, PMID:20864495, PMID:21320868, PMID:21606396, PMID:21668431, PMID:21859740, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24503780, PMID:24884844, PMID:25351510, PMID:25445213, PMID:25616645, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26220970, PMID:26230511, PMID:27532257, PMID:27662471, PMID:27930701, PMID:28098346, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28798025, PMID:28831623, PMID:28855170, PMID:29247119, PMID:29334134, PMID:30311386 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
Nicolaides Baraitser Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar Annotator: match by OMIM:601358
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213, PMID:19606471, PMID:22366787, PMID:22426308, PMID:22822383, PMID:23752187, PMID:25169058, PMID:25326635, PMID:25326637, PMID:25741868, PMID:27099726, PMID:27665729, PMID:28492532, PMID:28824374, PMID:30311386, PMID:30459321 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO DNA:deletion, nonsense mutation:exon:200_201delTT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12164927, PMID:15521008, PMID:16619213, PMID:15521008 RGD:11341732 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213, PMID:19684605, PMID:20882035, PMID:21396583, PMID:21548061, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28492532, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 OMIM
ClinVar
PMID:18414213, PMID:19684605, PMID:20882035, PMID:21396583, PMID:21548061, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28074886, PMID:28492532, PMID:29907801, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 ClinVar
OMIM
PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532 NCBI chr 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052
JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Oliver-McFarlane syndrome
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ClinVar
OMIM
PMID:3963113, PMID:8053762, PMID:18313024, PMID:20603202, PMID:24355708, PMID:25480986, PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO OMIM NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair OMIM
ClinVar
PMID:24671081 NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers 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:7849702, PMID:7920640, PMID:8571952, PMID:9195225, PMID:9238033, PMID:9758621, PMID:11242112, PMID:11709541, PMID:20944642, PMID:23232694, PMID:24728327, PMID:25620205, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
JBrowse link
Pili Torti Developmental Delay Neurological Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hephl1 hephaestin-like 1 ISO ClinVar Annotator: match by term: Pili torti developmental delay neurological abnormalities ClinVar PMID:31125343 NCBI chr 8:13,614,800...13,680,870
Ensembl chr 8:13,614,800...13,680,870
JBrowse link
Pseudofolliculitis Barbae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt75 keratin 75 susceptibility ISO ClinVar Annotator: match by term: Pseudofolliculitis barbae, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15086549 NCBI chr 7:143,219,012...143,228,237
Ensembl chr 7:143,219,012...143,228,060
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name Qualifiers 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
Skin Fragility-Woolly Hair Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Skin fragility woolly hair syndrome
ClinVar Annotator: match by OMIM:607655
OMIM
ClinVar
PMID:9229116, PMID:10395892, PMID:11278896, PMID:11841538, PMID:15210133, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20738328, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24448499, PMID:24503780, PMID:24704780, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25351510, PMID:25447171, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26230511, PMID:26332594, PMID:26383259, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26743238, PMID:26833927, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27707468, PMID:27884173, PMID:27930701, PMID:28074886, PMID:28087426, PMID:28254189, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28473349, PMID:28492532, PMID:28759816, PMID:28798025, PMID:29511324, PMID:29750433, PMID:29759408, PMID:30311386, PMID:30354334, PMID:30820396, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar
OMIM
PMID:15726110, PMID:27213289 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar PMID:15726110, PMID:27213289 NCBI chr 5:62,128,941...62,154,424
Ensembl chr 5:62,128,941...62,153,786
JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Qualifiers 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:1447097, PMID:1566583, PMID:8911612, PMID:10206641, PMID:15180707, PMID:15897400, PMID:18339010, PMID:20864124, PMID:20978268, PMID:21507891, PMID:24033266, PMID:25173801, PMID:25741868, PMID:27484032, PMID:28492532, PMID:28636882, PMID:31447097 NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome OMIM
ClinVar
PMID:9467018, PMID:9783705 NCBI chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr20:4,530,328...4,536,085
Ensembl chr20:4,530,342...4,536,209
JBrowse link
G Skiv2l Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
PMID:24033266 NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:24088041, PMID:25326635, PMID:25741868, PMID:26633545 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar Annotator: match by OMIM:222470
OMIM
ClinVar
PMID:20176027, PMID:21120949, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skiv2l Ski2 like RNA helicase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2
ClinVar Annotator: match by OMIM:614602
OMIM
ClinVar
PMID:22444670, PMID:24033266, PMID:25326635, PMID:25741868, PMID:27431780, PMID:28492532, PMID:32313153, PMID:32963807 NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
JBrowse link
Trichohepatoneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc47 coiled-coil domain containing 47 ISO ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome OMIM
ClinVar
PMID:30401460 NCBI chr10:94,388,425...94,406,949
Ensembl chr10:94,388,430...94,406,949
JBrowse link
trichorhinophalangeal syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,588,458...91,593,299
Ensembl chr 7:91,588,458...91,593,297
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
JBrowse link
G Anxa13 annexin A13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,217,642...98,270,442
Ensembl chr 7:98,217,642...98,270,110
JBrowse link
G Atad2 ATPase family, AAA domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,984,754...98,027,379
Ensembl chr 7:97,984,862...98,026,052
JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,375,134...94,382,154
Ensembl chr 7:94,375,020...94,383,024
JBrowse link
G Col14a1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,054,877...95,274,073
Ensembl chr 7:95,074,236...95,273,298
JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Deptor DEP domain containing MTOR-interacting protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,795,161...95,000,750
Ensembl chr 7:94,795,214...94,995,809
JBrowse link
G Derl1 derlin 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,737,176...97,759,852
Ensembl chr 7:97,737,178...97,759,852
JBrowse link
G Dscc1 DNA replication and sister chromatid cohesion 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,759,076...94,774,787
Ensembl chr 7:94,758,800...94,774,569
JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 6:10,151,732...10,236,677 JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,479,931...94,563,086
Ensembl chr 7:94,480,396...94,563,001
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Fam83a family with sequence similarity 83, member A ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,855,773...97,880,227
Ensembl chr 7:97,855,636...97,881,955
JBrowse link
G Fam91a1 family with sequence similarity 91, member A1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,302,803...98,341,201
Ensembl chr 7:98,302,953...98,342,367
JBrowse link
G Fbxo32 F-box protein 32 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,065,664...98,098,071
Ensembl chr 7:98,063,735...98,098,268
JBrowse link
G Fer1l6 fer-1-like family member 6 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,399,207...98,555,215
Ensembl chr 7:98,432,024...98,553,096
JBrowse link
G Has2 hyaluronan synthase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:76,621,230...76,771,017
Ensembl chr 9:76,621,230...76,768,806
JBrowse link
G Kansl1l KAT8 regulatory NSL complex subunit 1-like ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,710,959...73,819,335
Ensembl chr 9:73,713,430...73,799,427
JBrowse link
G Klhl38 kelch-like family member 38 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,187,954...98,197,163
Ensembl chr 7:98,186,764...98,197,114
JBrowse link
G Lancl1 LanC like 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:74,018,192...74,048,098
Ensembl chr 9:74,014,656...74,048,244
JBrowse link
G Lratd2 LRAT domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:101,138,188...101,142,123
Ensembl chr 7:101,139,376...101,140,308
JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,130,852...94,163,649
Ensembl chr 7:94,130,852...94,163,645
JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,234,584...92,260,019
Ensembl chr 7:92,234,597...92,256,100
JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,288,400...95,309,997
Ensembl chr 7:95,288,376...95,310,005
JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,309,928...95,392,418
Ensembl chr 7:95,309,928...95,387,680
JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,820,799...98,960,878
Ensembl chr 7:98,820,812...98,960,837
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,937,820...73,958,480
Ensembl chr 9:73,937,823...73,958,480
JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,813,062...98,819,408
Ensembl chr 7:98,813,040...98,819,452
JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,677,295...99,900,765
Ensembl chr 7:99,677,290...99,900,764
JBrowse link
G Ntaq1 N-terminal glutamine amidase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,957,022...97,977,158
Ensembl chr 7:97,957,003...97,994,586
JBrowse link
G Pvt1 Pvt1 oncogene ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:102,648,394...102,871,316 JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
G RGD1310852 similar to RIKEN cDNA 9130401M01 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,891,723...97,902,585
Ensembl chr 7:97,889,517...97,944,151
JBrowse link
G Rnf139 ring finger protein 139 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,770,840...98,782,025
Ensembl chr 7:98,770,840...98,782,025
JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,687,684...73,713,643
Ensembl chr 9:73,687,743...73,711,571
JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,832,988...91,869,329
Ensembl chr 7:91,832,988...91,867,300
JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,395,417...95,670,093
Ensembl chr 7:95,397,113...95,669,809
JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
JBrowse link
G Sqle squalene epoxidase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,698,987...94,755,924
Ensembl chr 7:94,698,987...94,755,924
JBrowse link
G Tatdn1 TatD DNase domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,782,164...98,813,001
Ensembl chr 7:98,782,178...98,804,499
JBrowse link
G Tbc1d31 TBC1 domain family, member 31 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,778,260...97,839,668
Ensembl chr 7:97,760,134...97,839,668
JBrowse link
G Tmem65 transmembrane protein 65 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,668,589...98,709,613
Ensembl chr 7:98,605,722...98,709,649
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Trib1 tribbles pseudokinase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,954,492...99,961,026
Ensembl chr 7:99,954,492...99,961,026
JBrowse link
G Trmt12 tRNA methyltransferase 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,748,547...98,750,173
Ensembl chr 7:98,748,547...98,750,171
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I
ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I
ClinVar Annotator: match by OMIM:190350
OMIM
ClinVar
PMID:10615131, PMID:11112658, PMID:11359471, PMID:11807863, PMID:11950061, PMID:14560312, PMID:18946009, PMID:22964620, PMID:23451857, PMID:24502542, PMID:25741868, PMID:25792522, PMID:26380986, PMID:27826100, PMID:28050602, PMID:28170084, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,492,907...73,686,578
Ensembl chr 9:73,493,027...73,683,000
JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,384,329...91,389,605
Ensembl chr 7:91,384,187...91,389,598
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
G Zhx1 zinc fingers and homeoboxes 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,915,280...97,944,787
Ensembl chr 7:97,915,581...97,944,491
JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,559,653...97,707,872
Ensembl chr 7:97,559,841...97,695,739
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 3
ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
ClinVar Annotator: match by OMIM:190351
OMIM
ClinVar
PMID:11112658, PMID:11807863, PMID:11950061, PMID:14560312, PMID:18946009, PMID:19694891, PMID:21850686, PMID:22964620, PMID:23451857, PMID:24502542, PMID:25741868, PMID:25792522, PMID:26113321, PMID:27826100, PMID:28050602, PMID:28170084, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
Uncombable Hair Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Uncombable hair syndrome ClinVar
OMIM
PMID:22381266, PMID:24629392, PMID:27866708 NCBI chr 5:159,309,000...159,336,429
Ensembl chr 5:159,309,000...159,336,429
JBrowse link
G Tchh trichohyalin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:193,778,022...193,784,793
Ensembl chr 2:193,778,042...193,783,761
JBrowse link
G Tgm3 transglutaminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:122,544,783...122,580,836
Ensembl chr 3:122,544,788...122,580,905
JBrowse link
Uncombable Hair Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Uncombable hair syndrome 2 ClinVar
OMIM
PMID:24183230, PMID:27866708 NCBI chr 3:122,544,783...122,580,836
Ensembl chr 3:122,544,788...122,580,905
JBrowse link
Uncombable Hair Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Uncombable hair syndrome 3 OMIM
ClinVar
PMID:25741868, PMID:27866708 NCBI chr 2:193,778,022...193,784,793
Ensembl chr 2:193,778,042...193,783,761
JBrowse link
Woodhouse-Sakati Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
ClinVar Annotator: match by term: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
ClinVar Annotator: match by OMIM:241080
OMIM
ClinVar
PMID:6876115, PMID:17710875, PMID:18049083, PMID:18175354, PMID:18414213, PMID:19026396, PMID:20507343, PMID:21044051, PMID:24015686, PMID:24088041, PMID:25326637, PMID:25741868, PMID:26612766, PMID:26633545, PMID:26664771, PMID:28492532, PMID:29546359 NCBI chr 3:57,646,799...57,678,802
Ensembl chr 3:57,646,811...57,673,418
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
ClinVar Annotator: match by term: Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
ClinVar PMID:17710875, PMID:19026396, PMID:26612766, PMID:28492532 NCBI chr 3:57,257,394...57,642,096 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      integumentary system disease 2758
        hair disease 262
          Bamforth-Lazarus syndrome 2
          Bird Headed Dwarfism Montreal Type 0
          Bjornstad syndrome 1
          Brachycephaly, Trichomegaly, and Developmental Delay 1
          Catatrichy 0
          Copper Deficiency, Familial Benign 0
          Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
          Dermoodontodysplasia 0
          FLOTCH Syndrome 0
          Hairy Palms and Soles 0
          Hirsutism + 9
          Kaler Garrity Stern Syndrome 0
          Katsantoni Papadakou Lagoyanni Syndrome 0
          Kozlowski-Krajewska Syndrome 0
          MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
          Martinez Monasterio Pinheiro Syndrome 0
          Menkes disease + 3
          Naxos disease + 2
          Oculotrichodysplasia 0
          Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
          Pili Annulati 0
          Pili Multigemini 0
          Pili Torti + 1
          Pseudofolliculitis Barbae 1
          Pseudomonilethrix 0
          Rodrigues Blindness 0
          Skin Fragility-Woolly Hair Syndrome 1
          Tricho-Dento-Osseous Syndrome 1 0
          Trichodysplasia-Xeroderma 0
          Trichohepatoneurodevelopmental Syndrome 1
          Trichostasis Spinulosa 0
          Uncombable Hair Syndrome + 3
          White Forelock with Malformations 0
          familial isolated trichomegaly 14
          familial woolly hair syndrome + 6
          folliculitis + 1
          hypertrichosis + 26
          hypotrichosis + 127
          monilethrix + 3
          photosensitive trichothiodystrophy 1 3
          pure hair and nail ectodermal dysplasia + 2
          superficial mycosis + 0
          tinea capitis + 0
          trichodontoosseous syndrome 1
          trichohepatoenteric syndrome + 4
          trichorhinophalangeal syndrome type I 59
          trichorhinophalangeal syndrome type III 1
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
            hair disease 262
              Bamforth-Lazarus syndrome 2
              Bird Headed Dwarfism Montreal Type 0
              Bjornstad syndrome 1
              Brachycephaly, Trichomegaly, and Developmental Delay 1
              Catatrichy 0
              Copper Deficiency, Familial Benign 0
              Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
              Dermoodontodysplasia 0
              FLOTCH Syndrome 0
              Hairy Palms and Soles 0
              Hirsutism + 9
              Kaler Garrity Stern Syndrome 0
              Katsantoni Papadakou Lagoyanni Syndrome 0
              Kozlowski-Krajewska Syndrome 0
              MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
              Martinez Monasterio Pinheiro Syndrome 0
              Menkes disease + 3
              Naxos disease + 2
              Oculotrichodysplasia 0
              Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
              Pili Annulati 0
              Pili Multigemini 0
              Pili Torti + 1
              Pseudofolliculitis Barbae 1
              Pseudomonilethrix 0
              Rodrigues Blindness 0
              Skin Fragility-Woolly Hair Syndrome 1
              Tricho-Dento-Osseous Syndrome 1 0
              Trichodysplasia-Xeroderma 0
              Trichohepatoneurodevelopmental Syndrome 1
              Trichostasis Spinulosa 0
              Uncombable Hair Syndrome + 3
              White Forelock with Malformations 0
              familial isolated trichomegaly 14
              familial woolly hair syndrome + 6
              folliculitis + 1
              hypertrichosis + 26
              hypotrichosis + 127
              monilethrix + 3
              photosensitive trichothiodystrophy 1 3
              pure hair and nail ectodermal dysplasia + 2
              superficial mycosis + 0
              tinea capitis + 0
              trichodontoosseous syndrome 1
              trichohepatoenteric syndrome + 4
              trichorhinophalangeal syndrome type I 59
              trichorhinophalangeal syndrome type III 1
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.