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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:hypohidrosis
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Accession:DOID:11155 term browser browse the term
Definition:A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. (DO)
Synonyms:exact_synonym: oligohidrosis
 primary_id: MESH:D007007
 xref: EFO:1000712;   ICD10CM:L74.4;   NCI:C34718
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hypohidrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP5 aquaporin 5 ISO RGD PMID:11773623 RGD:70240 NCBI chr12:49,961,872...49,965,682
Ensembl chr12:49,961,872...49,965,682 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP ClinVar Annotator: match by term: Hypohidrosis ClinVar PMID:23606727 PMID:25558065 PMID:25741868 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A IAGP
EXP		 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic		 ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,786,750...108,885,485
Ensembl chr 2:108,786,757...108,885,477 		JBrowse link
G EDAR ectodysplasin A receptor IAGP
EXP		 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... RGD:1598883 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain IAGP
EXP		 ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,449,206...108,509,415
Ensembl chr 2:108,449,107...108,509,415 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,533,671...108,687,246
Ensembl chr 2:108,533,671...108,687,246 		JBrowse link
G LOC126806303 BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,956,962...108,958,161 JBrowse link
G LOC129388897 MPRA-validated peak3811 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,846,029...108,846,229 JBrowse link
G LOC129388898 MPRA-validated peak3812 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,870,099...108,870,299 JBrowse link
G LOC129934529 ATAC-STARR-seq lymphoblastoid silent region 11852 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,786,580...108,787,169 JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia		 ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,288,895...108,309,915
Ensembl chr 2:108,288,639...108,309,915 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,239,968...108,265,351
Ensembl chr 2:108,239,968...108,265,351 		JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,377,954...108,388,989
Ensembl chr 2:108,377,911...108,388,989 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia		 ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,786,750...108,885,485
Ensembl chr 2:108,786,757...108,885,477 		JBrowse link
G EDAR ectodysplasin A receptor IAGP
EXP		 ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive		 ClinVar
CTD
OMIM		 PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		 CTD
ClinVar		 PMID:25741868 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,449,206...108,509,415
Ensembl chr 2:108,449,107...108,509,415 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,533,671...108,687,246
Ensembl chr 2:108,533,671...108,687,246 		JBrowse link
G LOC126806303 BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:28492532 NCBI chr 2:108,956,962...108,958,161 JBrowse link
G LOC126806304 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109588237-109589436 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 NCBI chr 2:108,971,781...108,972,980 JBrowse link
G LOC129388897 MPRA-validated peak3811 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:108,846,029...108,846,229 JBrowse link
G LOC129388898 MPRA-validated peak3812 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:108,870,099...108,870,299 JBrowse link
G LOC129934529 ATAC-STARR-seq lymphoblastoid silent region 11852 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:108,786,580...108,787,169 JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive		 ClinVar PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,288,895...108,309,915
Ensembl chr 2:108,288,639...108,309,915 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,239,968...108,265,351
Ensembl chr 2:108,239,968...108,265,351 		JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,377,954...108,388,989
Ensembl chr 2:108,377,911...108,388,989 		JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated via death domain IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ClinVar
OMIM		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDAR ectodysplasin A receptor IAGP 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 chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive		 ClinVar
OMIM		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP 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 chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDF1 keratinocyte differentiation factor 1 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ClinVar
OMIM		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CST6 cystatin E/M IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP
EXP		 DNA:mutation:splicing site:
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia		 ClinVar
CTD
OMIM
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647 		JBrowse link
G CFL2 cofilin 2 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,044,907...35,083,383
Ensembl chr14:35,045,117...35,116,630 		JBrowse link
G LOC130055494 ATAC-STARR-seq lymphoblastoid active region 8276 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr14:35,403,241...35,403,550 JBrowse link
G LOC130055496 ATAC-STARR-seq lymphoblastoid silent region 5675 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr14:35,403,831...35,404,420 JBrowse link
G LOC130055497 ATAC-STARR-seq lymphoblastoid silent region 5676 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:17931563 PMID:18412279 PMID:25741868 PMID:28492532 PMID:28629746 More... NCBI chr14:35,404,571...35,404,740 JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP
EXP		 ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493 		JBrowse link
G SRP54 signal recognition particle 54 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAX1 HCLS1 associated protein X-1 IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875 		JBrowse link
G INSRR insulin receptor related receptor IAGP ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117 		JBrowse link
G LOC129931648 ATAC-STARR-seq lymphoblastoid silent region 1440 IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV		 ClinVar PMID:10330344 PMID:10982191 PMID:20301726 PMID:25741868 PMID:28328124 More... NCBI chr 1:156,860,931...156,860,980 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: HSAN 4
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis		 ClinVar
OMIM		 PMID:77656 PMID:0233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G SH2D2A SH2 domain containing 2A IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 1:156,806,243...156,816,848
Ensembl chr 1:156,806,240...156,816,848 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISS
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO
RGD		 PMID:31028034 RGD:14398763 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDAR ectodysplasin A receptor ISS
IAGP		 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 chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain ISO
IAGP		 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 chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G TRAF6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272 		JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
isolated anhidrosis with normal sweat glands term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 IAGP
ISS		 ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands
OMIM:106190		 ClinVar
MouseDO
OMIM		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 IAGP
EXP		 ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome
ClinVar Annotator: match by term: NFJ syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496458 PMID:13141721 PMID:16960809 PMID:25741868 PMID:28492532 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 IAGP ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
ClinVar Annotator: match by term: ALPK1-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    sensory system disease 20956
      skin disease 10978
        sweat gland disease 180
          hypohidrosis 45
            Ameloonychohypohidrotic Syndrome 0
            Harlequin Syndrome 0
            Hypohidrosis with Abnormal Palmar Dermal Ridges 0
            Lelis Syndrome 0
            Naegeli-Franceschetti-Jadassohn syndrome 1
            Van Den Bosch Syndrome 0
            anhidrosis + 7
            hypohidrotic ectodermal dysplasia + 35
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        Neurologic Manifestations 31894
          sensory system disease 20956
            skin disease 10978
              sweat gland disease 180
                hypohidrosis 45
                  Ameloonychohypohidrotic Syndrome 0
                  Harlequin Syndrome 0
                  Hypohidrosis with Abnormal Palmar Dermal Ridges 0
                  Lelis Syndrome 0
                  Naegeli-Franceschetti-Jadassohn syndrome 1
                  Van Den Bosch Syndrome 0
                  anhidrosis + 7
                  hypohidrotic ectodermal dysplasia + 35
paths to the root