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: hypohidrotic ectodermal dysplasia
Accession: DOID:14793
browse the term
Definition: An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (DO)
Synonyms: xref: GARD:76 ; NCI:C84562 ; ORDO:238468
For additional species annotation, visit the
Alliance of Genome Resources .
G
Eda
ectodysplasin-A
ISS ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
MouseDO ClinVar RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 PMID:31028034 More...
RGD:14398763
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
G
Edar
ectodysplasin-A receptor
ISS ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO ClinVar
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd
EDAR associated via 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 PMID:22013926 More...
RGD:14398762
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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EdaraddswhKyo
EDAR-associated death domain;swh Kyo mutant
IAGP
RGD
PMID:22013926
RGD:14398762
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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 PMID:28492532 PMID:28808699 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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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
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar
PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23167694 PMID:23401279 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 PMID:35537890 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Eda
ectodysplasin-A
ISO
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 PMID:9736768 PMID:9856856 PMID:10469321 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12947561 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18688569 PMID:18821982 PMID:19278982 PMID:19438931 PMID:19504606 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:19960895 PMID:20077893 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25640679 PMID:25741868 PMID:25846883 PMID:26273176 PMID:26345974 PMID:26411740 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27264909 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34573371 PMID:34863015 PMID:34906502 PMID:35023123 PMID:36071541 PMID:36294409 PMID:202361270 PMID:8696334 More...
RGD:1598881
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Eda2r
ectodysplasin A2 receptor
ISO
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
ClinVar
PMID:22889853
NCBI chr X:62,224,763...62,269,333
Ensembl chr X:62,228,229...62,269,268
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Mvk
mevalonate kinase
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic
ClinVar
PMID:25741868
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Ccdc138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 PMID:10431241 More...
RGD:1598883
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd
EDAR associated via 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
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Gcc2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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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:10431242 PMID:11035039 PMID:11279189 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc5a7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a
sulfotransferase family 1C member 2A
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3
sulfotransferase family 1C member 3
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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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
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Edar
ectodysplasin-A receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | 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 CTD ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
G
Edaradd
EDAR associated via 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
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | 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 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
G
Edaradd
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25640679 PMID:25741868 PMID:26440664 PMID:28492532 PMID:33502802 PMID:34219261 PMID:34573371 More...
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
G
Edaradd
EDAR associated via death domain
ISO
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
OMIM ClinVar
PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26440664 PMID:26991760 PMID:28492532 PMID:34219261 More...
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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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 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Kdf1
keratinocyte differentiation factor 1
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27838789 PMID:28492532
NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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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
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
ClinVar
PMID:25741868
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
ClinVar
PMID:25741868
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
ClinVar
PMID:25741868
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site:
OMIM ClinVar CTD RGD
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
RGD:12791265
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
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Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
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Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
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Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
OMIM CTD ClinVar
PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25601653 PMID:25741868 PMID:26888281 PMID:28417298 PMID:28492532 PMID:28629746 PMID:29948576 PMID:32581362 PMID:32750042 More...
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
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Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
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