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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:alopecia
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Accession:DOID:987 term browser browse the term
Definition:A hypotrichosis that is characterized by a loss of hair from the head or body. (DO)
Synonyms:exact_synonym: AGA1;   Baldness;   Female Pattern Baldness;   Hair Loss;   alopecia cicatrisata;   alopecia cicatrisatas;   androgenetic alopecia 1;   generic alopecia;   male pattern alopecia;   male pattern baldness;   pattern baldness;   pseudopelade
 narrow_synonym: AGA BALDNESS, MALE PATTERN;   ANDROGENETIC ALOPECIA;   Alopecia, color mutant;   MPB
 primary_id: MESH:D000505
 alt_id: MIM:109200;   MIM:300042;   OMIA:000030;   OMIA:000031
 xref: EFO:0003109;   ICD10CM:L65.9;   ICD9CM:704.0;   MIM:PS203655;   MONDO:0004907;   NCI:C50575


show annotations for term's descendants           Sort by:
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...3,184,252
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 chr18:11,720,844...11,757,927
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 Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Alopecia, androgenetic, 1 ClinVar NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		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:591423 PMID:5019544 PMID:7725619 PMID:8257319 PMID:8533225 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-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 chr20:3,314,830...3,318,106 JBrowse link
G Smarcd1 SWI/SNF related BAF chromatin remodeling complex subunit D1 ISO ClinVar Annotator: match by term: Alopecia, androgenetic, 1 ClinVar NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323 		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 chr15:44,840,386...44,868,318
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 1:98,487,319...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 chr20:40,548,244...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...128,961,926
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...1,237,233
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
ISS		 ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita
OMIM:203655
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8357006 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Alopecia universalis congenita ClinVar PMID:25741868
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, 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:19026396 PMID:20507343 PMID:21964978 PMID:24015686 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820 		JBrowse link
G Mettl8 methyltransferase 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:28492532 NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANE syndrome		 OMIM
CTD
ClinVar		 PMID:18439547 PMID:25741868 NCBI chr 4:57,722,946...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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1		 OMIM
CTD
ClinVar		 PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 More... NCBI chr11:78,121,388...78,127,998
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 | ClinVar Annotator: match by term: Alopecia-mental retardation syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30401459 More... 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
ISS		 OMIM:209500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia		 OMIM
MouseDO
CTD
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 Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Atrichia with papular lesions ClinVar PMID:25741868
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
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 | 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:20437615 PMID:21115960 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:27148565 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		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: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome OMIM
ClinVar		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:10733662 PMID:11710919 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		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
OMIM		 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 susceptibility ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome		 OMIM
CTD
ClinVar
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
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: Alopecia Universalis Congenita, Mari type | 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-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:28492532 More... 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:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 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 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30431684 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome		 OMIM
CTD
ClinVar		 PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 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 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr  X:37,438,425...37,442,047
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
DNA:deletion, nonsense mutation:exon:200_201delTT(human)		 OMIM
CTD
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: CLDN1-related condition | 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
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS		 OMIM
CTD
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
ISS		 OMIM:616367
ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia		 OMIM
MouseDO
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 PMID:30475435 PMID:34477286 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440 		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-like syndrome 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: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... RGD:155804265, RGD:11071098, RGD:11071178 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 | ClinVar Annotator: match by term: PPP1CB-related condition 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:12457340 PMID:15879313 PMID:25168385 PMID:25327171 PMID:25741868 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		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
ISS		 ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
OMIM:601705
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 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 19100
    Pathological Conditions, Signs and Symptoms 13604
      Anatomical Pathological Conditions 2750
        alopecia 94
          Alopecia Congenita Keratosis Palmoplantaris + 1
          Alopecia Contractures Dwarfism Mental Retardation 0
          Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
          Alopecia, Hypogonadism, Extrapyramidal Disorder 2
          Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 0
          Androgenetic Alopecia 2 0
          Androgenetic Alopecia 3 0
          Bullous Dystrophy, Hereditary Macular Type 0
          Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
          Central Centrifugal Cicatricial Alopecia 1
          Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
          Congenital Alopecia X-Linked 0
          Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
          Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
          Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
          Familial Focal Alopecia 0
          Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
          GAPO syndrome 1
          GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES 1
          Garret Tripp Syndrome 0
          Gomez Lopez Hernandez Syndrome 0
          Hypergonadotropic Hypogonadism and Partial Alopecia 0
          IFAP Syndrome + 4
          Jagell Holmgren Hofer Syndrome 0
          Johnson Neuroectodermal Syndrome 0
          Kuster Majewski Hammerstein Syndrome 0
          Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
          Microcephaly Sparse Hair Mental Retardation Seizures 0
          Moloney Syndrome 0
          Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
          PARC Syndrome 0
          Patel Bixler Syndrome 0
          Perniola Krajewska Carnevale Syndrome 0
          Satoyoshi Syndrome 0
          Scholte Syndrome 0
          Slti Salem Syndrome 0
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
          Thumb Deformity and Alopecia 0
          Thumb Deformity, Alopecia, Pigmentation Anomaly 0
          Urban Schosser Spohn Syndrome 1
          Woodhouse-Sakati syndrome 2
          Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 0
          alopecia areata + 28
          alopecia universalis + 3
          alopecia, neurologic defects, and endocrinopathy syndrome 1
          alopecia-mental retardation syndrome + 3
          androgenic alopecia 0
          atrichia with papular lesions 3
          autosomal dominant keratosis follicularis spinulosa decalvans 0
          chemotherapy-induced alopecia 0
          dermatopathia pigmentosa reticularis 1
          follicular mucinosis 0
          frontal fibrosing alopecia 0
          frontonasal dysplasia 2 1
          hypotrichosis 7 1
          hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
          ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
          loose anagen hair syndrome + 2
          mandibulofacial dysostosis with alopecia 1
          palmoplantar keratoderma and congenital alopecia 2 0
          telogen effluvium 0
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10419
          sensory system disease 7329
            skin disease 4309
              hair disease 329
                hypotrichosis 148
                  alopecia 94
                    Alopecia Congenita Keratosis Palmoplantaris + 1
                    Alopecia Contractures Dwarfism Mental Retardation 0
                    Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
                    Alopecia, Hypogonadism, Extrapyramidal Disorder 2
                    Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 0
                    Androgenetic Alopecia 2 0
                    Androgenetic Alopecia 3 0
                    Bullous Dystrophy, Hereditary Macular Type 0
                    Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
                    Central Centrifugal Cicatricial Alopecia 1
                    Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
                    Congenital Alopecia X-Linked 0
                    Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
                    Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
                    Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
                    Familial Focal Alopecia 0
                    Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
                    GAPO syndrome 1
                    GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES 1
                    Garret Tripp Syndrome 0
                    Gomez Lopez Hernandez Syndrome 0
                    Hypergonadotropic Hypogonadism and Partial Alopecia 0
                    IFAP Syndrome + 4
                    Jagell Holmgren Hofer Syndrome 0
                    Johnson Neuroectodermal Syndrome 0
                    Kuster Majewski Hammerstein Syndrome 0
                    Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                    Microcephaly Sparse Hair Mental Retardation Seizures 0
                    Moloney Syndrome 0
                    Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
                    PARC Syndrome 0
                    Patel Bixler Syndrome 0
                    Perniola Krajewska Carnevale Syndrome 0
                    Satoyoshi Syndrome 0
                    Scholte Syndrome 0
                    Slti Salem Syndrome 0
                    T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
                    Thumb Deformity and Alopecia 0
                    Thumb Deformity, Alopecia, Pigmentation Anomaly 0
                    Urban Schosser Spohn Syndrome 1
                    Woodhouse-Sakati syndrome 2
                    Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 0
                    alopecia areata + 28
                    alopecia universalis + 3
                    alopecia, neurologic defects, and endocrinopathy syndrome 1
                    alopecia-mental retardation syndrome + 3
                    androgenic alopecia 0
                    atrichia with papular lesions 3
                    autosomal dominant keratosis follicularis spinulosa decalvans 0
                    chemotherapy-induced alopecia 0
                    dermatopathia pigmentosa reticularis 1
                    follicular mucinosis 0
                    frontal fibrosing alopecia 0
                    frontonasal dysplasia 2 1
                    hypotrichosis 7 1
                    hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
                    ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
                    loose anagen hair syndrome + 2
                    mandibulofacial dysostosis with alopecia 1
                    palmoplantar keratoderma and congenital alopecia 2 0
                    telogen effluvium 0
paths to the root