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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:hypotrichosis
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Accession:DOID:4535 term browser browse the term
Definition:A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. (DO)
Synonyms:exact_synonym: AH;   HYPOTRICHOSIS WITH WOOLLY HAIR;   Hypotrichoses
 narrow_synonym: ARWH2;   LOCALIZED AR HYPOTRICHOSIS;   WH/HT;   hypotrichosis, autosomal recessive;   hypotrichosis, recessive
 related_synonym: Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis
 primary_id: MESH:D007039
 alt_id: OMIA:001279
 xref: NCI:C34720;   OMIM:PS605389
For additional species annotation, visit the Alliance of Genome Resources.



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hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 ISO
IMP
IAGP
DNA:deletion
DNA:missense mutation:exon 8 (rat)
RGD PMID:15191570 PMID:15606503 PMID:15617564 PMID:15081105 RGD:1599796, RGD:150521560, RGD:150521562, RGD:1302434 NCBI chr18:11,720,975...11,756,234
Ensembl chr18:11,720,975...11,756,234
JBrowse link
G Dsg4hr desmoglein 4; hairless mutant IMP RGD PMID:15606503 RGD:150521560
G Krt71 keratin 71 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325
JBrowse link
G Liph lipase H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis
CTD
ClinVar
PMID:18445047 PMID:18830268 PMID:19365138 PMID:19892526 PMID:20213768 More... NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297072 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Rpl21 ribosomal protein L21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:8,268,641...8,272,290
Ensembl chr12:8,267,196...8,272,281
JBrowse link
G Sgk3 serum/glucocorticoid regulated kinase family, member 3 ISO Hypotrichosis, recessive OMIA PMID:3367039 PMID:27994129 PMID:30927068 PMID:31727632 NCBI chr 5:9,345,761...9,472,243
Ensembl chr 5:9,346,040...9,415,476
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15902657 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:dermal papilla: RGD PMID:21729031 RGD:8657081 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25242322 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Cdsn corneodesmosin ISO hypotrichosis simplex of the scalp, OMIM:146520 RGD PMID:12754508 RGD:1599783 NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Dsg4 desmoglein 4 IAGP DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chr18:11,720,975...11,756,234
Ensembl chr18:11,720,975...11,756,234
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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Far2 fatty acyl CoA reductase 2 ISS OMIM:300042 MouseDO NCBI chr 4:180,973,968...181,087,862
Ensembl chr 4:181,007,622...181,087,255
JBrowse link
G Foxn1 forkhead box N1 ISO T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 RGD PMID:10206641 RGD:1599846 NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO alopecia universalis congenita, OMIM:203655
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16455232 PMID:9736769 RGD:1599575 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Krt71 keratin 71 IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415 NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325
JBrowse link
G Krt71Rex keratin 71; autosomal dominant Rex IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415
G Mlph melanophilin ISO Coat colour, dilution, MLPH-related OMIA PMID:8257319 PMID:12358609 PMID:15958794 PMID:15960853 PMID:16131833 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Prss8 serine protease 8 IAGP DNA:deletion:cds:exon 3 (rat) RGD PMID:20201958 RGD:150520038 NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) RGD PMID:7573371 RGD:7387278 NCBI chr20:4,905,309...4,914,593 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 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17136762 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,839,818...44,867,582
Ensembl chr15:44,840,386...44,867,467
JBrowse link
G Tpmt thiopurine S-methyltransferase ISO RGD PMID:24322830 RGD:11038725 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 IAGP DNA:missense mutation:cds:G1717T (rat) RGD PMID:16858425 RGD:150520053 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:1338926 PMID:22466564 PMID:11713240 RGD:8157637 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905
JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
JBrowse link
alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISS OMIM:104000 | OMIM:610753 MouseDO NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:128,923,918...128,962,025
Ensembl chr 7:128,923,920...128,962,072
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
JBrowse link
G Mx1 MX dynamin like GTPase 1 onset ISO DNA:SNP:intron 6:g.9959C>T (human) RGD PMID:10942113 RGD:126777672 NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
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: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita OMIM
ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:11410842 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum RGD PMID:20671941 RGD:7829773 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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: ANE syndrome OMIM
ClinVar
PMID:18439547 PMID:25741868 NCBI chr 4:57,722,223...57,761,935
Ensembl chr 4:57,722,223...57,761,653
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 OMIM
ClinVar
PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 More... NCBI chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999
JBrowse link
alopecia-mental retardation syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 ClinVar PMID:25741868 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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 term: Papular Atrichia OMIM
ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
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: Autosomal recessive congenital ichthyosis 11
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 More... NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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: Woolly hair, autosomal recessive 3 OMIM
ClinVar
PMID:24824130 PMID:26160856 PMID:26902920 NCBI chr10:84,267,600...84,276,312
Ensembl chr10:84,267,399...84,274,965
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name 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 PMID:25741868 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
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 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146
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: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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 term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME OMIM
ClinVar
PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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 term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy OMIM
ClinVar
PMID:11544476 PMID:12445216 PMID:14708629 PMID:25741868 PMID:27386845 More... NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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 term: Cutaneous telangiectasia and cancer syndrome, familial OMIM
ClinVar
PMID:22341969 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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 term: Dermatopathia pigmentosa reticularis OMIM
ClinVar
PMID:1303619 PMID:25741868 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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
RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268
JBrowse link
ectodermal dysplasia 10A 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: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar
OMIM
RGD
PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 More... RGD:1598883 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR-associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CTD
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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 OMIM
ClinVar
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
ectodermal dysplasia 11B 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 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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:25741868 PMID:30425301 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
DNA:mutation:splicing site:
OMIM
ClinVar
RGD
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 2 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 and immunodeficiency 2 OMIM
ClinVar
PMID:14523047 PMID:15337789 PMID:17931563 PMID:18412279 PMID:23708964 More... NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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 OMIM
ClinVar
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
GAPO syndrome 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: Gapo syndrome
ClinVar
OMIM
RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ClinVar
OMIM
PMID:29851065 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
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 | ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268
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 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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
RGD
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More... RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP RGD PMID:22013926 RGD:14398762
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:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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 term: Hypotrichosis 1
OMIM
CTD
ClinVar
PMID:10878665 PMID:20393562 PMID:22512811 NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Hypotrichosis simplex ClinVar PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 PMID:19931493 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Hypotrichosis simplex ClinVar PMID:18830268 PMID:19892526 PMID:20213768 PMID:21352330 PMID:22449147 More... NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297070 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO DNA:snp:cds:c.1A>G (human) RGD PMID:23246290 RGD:10768831 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
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 term: Hypotrichosis 11 OMIM
ClinVar
PMID:9621144 PMID:23246290 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
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 chr12:8,268,641...8,272,290
Ensembl chr12:8,267,196...8,272,281
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 OMIM
ClinVar
PMID:22592156 PMID:25741868 NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325
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 OMIM
ClinVar
PMID:25741868 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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 term: Hypotrichosis 2 OMIM
ClinVar
PMID:3652491 PMID:10793007 PMID:12754508 PMID:25741868 NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis 4
CTD
ClinVar
PMID:10777357 PMID:10854110 PMID:11069461 PMID:17680008 PMID:19122663 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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 Ensembl chr 2:195,514,692...195,528,085 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 More... NCBI chr18:11,720,975...11,756,234
Ensembl chr18:11,720,975...11,756,234
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 OMIM
ClinVar
PMID:17095700 PMID:17333281 PMID:18445047 PMID:18830268 PMID:19365138 More... NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
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 8 ClinVar PMID:24824130 PMID:26160856 NCBI chr10:84,267,600...84,276,312
Ensembl chr10:84,267,399...84,274,965
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Hypotrichosis 8 OMIM
ClinVar
PMID:18297070 PMID:18297072 PMID:18461368 PMID:21070332 PMID:21426374 More... NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Hypotrichosis 8 ClinVar PMID:18297070 PMID:18297072 PMID:18461368 PMID:21070332 PMID:21426374 More... NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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 term: Hypotrichosis and recurrent skin vesicles OMIM
ClinVar
PMID:19765682 PMID:31790667 NCBI chr18:11,379,759...11,413,797
Ensembl chr18:11,377,347...11,413,797
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 term: Hypotrichosis-lymphedema-telangiectasia syndrome
ClinVar
OMIM
RGD
PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:12740761 RGD:1599075 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM
ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:29307792 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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 PMID:32902915 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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 chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome OMIM
ClinVar
PMID:19361614 PMID:21426410 PMID:22105905 PMID:24313295 PMID:25741868 More... NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:32497488 PMID:32902915 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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: LOUCKS-INNES SYNDROME OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:26220823 PMID:28492532 PMID:29362492 More... NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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 OMIM
ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
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 OMIM
ClinVar
PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odc1 ornithine decarboxylase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with alopecia and brain abnormalities OMIM
ClinVar
PMID:25741868 PMID:30239107 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
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 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115
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 term: Sparse hair and mental retardation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213 PMID:19606471 PMID:22366787 PMID:22426308 PMID:22822383 More... NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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 ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
DNA:deletion, nonsense mutation:exon:200_201delTT(human)
OMIM
ClinVar
RGD
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More... RGD:11341732 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome ClinVar PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824
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 ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM
ClinVar
PMID:25168385 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis OMIM
ClinVar
PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 More... NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
JBrowse link
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 OMIM
ClinVar
PMID:8911612 PMID:9536098 PMID:10206641 PMID:15180707 PMID:15897400 More... NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link
Urban Schosser Spohn Syndrome 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: Hereditary mucoepithelial dysplasia OMIM
ClinVar
PMID:32497488 PMID:32902915 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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 OMIM
ClinVar
PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome ClinVar PMID:9536098 PMID:17576681 PMID:17710875 PMID:19026396 PMID:20507343 More... NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      integumentary system disease 3754
        hair disease 255
          hypotrichosis 126
            Basaran Yilmaz Syndrome 1
            Bazex-Dupre-Christol Syndrome 0
            Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
            Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
            Ectodermal Dysplasia, Trichoodontoonychial Type 0
            Hypotrichosis and Recurrent Skin Vesicles 1
            Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 0
            Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
            Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
            Loucks-Innes Syndrome 1
            Nicolaides Baraitser Syndrome 4
            Rombo Syndrome 0
            Schopf-Schulz-Passarge syndrome 1
            Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
            Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
            Storm Syndrome 0
            Trichoodontoonychial Dysplasia 0
            alopecia + 90
            autosomal recessive congenital ichthyosis 11 1
            autosomal recessive woolly hair 3 1
            congenital hypotrichosis with juvenile macular dystrophy 1
            hypohidrotic ectodermal dysplasia + 14
            hypotrichosis 1 5
            hypotrichosis 10 0
            hypotrichosis 11 1
            hypotrichosis 12 1
            hypotrichosis 13 1
            hypotrichosis 14 1
            hypotrichosis 2 1
            hypotrichosis 3 0
            hypotrichosis 4 1
            hypotrichosis 5 1
            hypotrichosis 6 1
            hypotrichosis 7 1
            hypotrichosis 8 3
            hypotrichosis 9 0
            hypotrichosis of eyelid 0
            hypotrichosis-lymphedema-telangiectasia syndrome + 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            hair disease 255
              hypotrichosis 126
                Basaran Yilmaz Syndrome 1
                Bazex-Dupre-Christol Syndrome 0
                Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
                Ectodermal Dysplasia, Trichoodontoonychial Type 0
                Hypotrichosis and Recurrent Skin Vesicles 1
                Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 0
                Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
                Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
                Loucks-Innes Syndrome 1
                Nicolaides Baraitser Syndrome 4
                Rombo Syndrome 0
                Schopf-Schulz-Passarge syndrome 1
                Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
                Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
                Storm Syndrome 0
                Trichoodontoonychial Dysplasia 0
                alopecia + 90
                autosomal recessive congenital ichthyosis 11 1
                autosomal recessive woolly hair 3 1
                congenital hypotrichosis with juvenile macular dystrophy 1
                hypohidrotic ectodermal dysplasia + 14
                hypotrichosis 1 5
                hypotrichosis 10 0
                hypotrichosis 11 1
                hypotrichosis 12 1
                hypotrichosis 13 1
                hypotrichosis 14 1
                hypotrichosis 2 1
                hypotrichosis 3 0
                hypotrichosis 4 1
                hypotrichosis 5 1
                hypotrichosis 6 1
                hypotrichosis 7 1
                hypotrichosis 8 3
                hypotrichosis 9 0
                hypotrichosis of eyelid 0
                hypotrichosis-lymphedema-telangiectasia syndrome + 1
paths to the root