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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:hypohidrotic ectodermal dysplasia
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Accession:DOID:14793 term browser 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;   MONDO:0016535;   NCI:C84562;   ORDO:238468
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia 		MouseDO
ClinVar
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:69,118,577...69,520,274
Ensembl chr  X:69,118,796...69,520,274 		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 chr20:27,130,934...27,209,672
Ensembl chr20:27,130,934...27,209,630 		JBrowse link
G 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 More... RGD:14398762 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP RGD PMID:22013926 RGD:14398762
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 chr20:26,984,520...27,036,573
Ensembl chr20:26,985,275...27,036,571 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:108,418,537...108,443,330
Ensembl chr 3:108,418,513...108,443,328 		JBrowse link
G 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 More... NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:83,798,594...83,811,067 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO
ISS 		ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
OMIM:305100
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:69,118,577...69,520,274
Ensembl chr  X:69,118,796...69,520,274 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,225,557...66,280,674
Ensembl chr  X:66,236,111...66,280,663 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr12:47,802,002...47,819,503
Ensembl chr12:47,802,002...47,819,503 		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 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | 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 More... NCBI chr20:26,493,624...26,572,367
Ensembl chr20:27,038,349...27,115,452 		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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... RGD:1598883 NCBI chr20:27,130,934...27,209,672
Ensembl chr20:27,130,934...27,209,630 		JBrowse link
G 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 PMID:25741868 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,788,472...26,836,728
Ensembl chr20:26,790,516...26,836,726 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,851,364...26,961,607
Ensembl chr20:26,852,996...26,961,606 		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:10431242 PMID:11035039 PMID:11279189 More... NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,985,275...27,036,571 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,922,693...7,953,509
Ensembl chr 9:7,922,697...7,953,509 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,075,873...7,103,316
Ensembl chr 9:7,066,905...7,244,132 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,548,839...7,594,299
Ensembl chr 9:7,548,622...7,594,295 		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 ISO 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 PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,493,624...26,572,367
Ensembl chr20:27,038,349...27,115,452 		JBrowse link
G Edar ectodysplasin-A receptor 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16029325 More... NCBI chr20:27,130,934...27,209,672
Ensembl chr20:27,130,934...27,209,630 		JBrowse link
G Edaradd EDAR associated via death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 		CTD
ClinVar		 PMID:25741868 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,788,472...26,836,728
Ensembl chr20:26,790,516...26,836,726 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,851,364...26,961,607
Ensembl chr20:26,852,996...26,961,606 		JBrowse link
G 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:10431242 PMID:11279189 PMID:15373768 PMID:16029325 More... NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,985,275...27,036,571 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,922,693...7,953,509
Ensembl chr 9:7,922,697...7,953,509 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,075,873...7,103,316
Ensembl chr 9:7,066,905...7,244,132 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,548,839...7,594,299
Ensembl chr 9:7,548,622...7,594,295 		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 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 More... NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		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 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 chr20:27,130,934...27,209,672
Ensembl chr20:27,130,934...27,209,630 		JBrowse link
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 More... NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		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 chr20:26,984,520...27,036,573
Ensembl chr20:26,985,275...27,036,571 		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 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ClinVar Annotator: match by term: KDF1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 5:151,028,152...151,039,753
Ensembl chr 5:151,029,149...151,039,752 		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 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chr 1:212,084,676...212,086,384
Ensembl chr 1:212,084,676...212,086,384 		JBrowse link
Ectodermal dysplasia 17 with or without limb malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lef1 lymphoid enhancer binding factor 1 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 17 WITH OR WITHOUT LIMB MALFORMATIONS OMIM
ClinVar		 PMID:25741868 PMID:35583550 PMID:39107921 NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:222,340,704...222,453,929 		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 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY 		CTD
ClinVar		 PMID:11224521 PMID:11590134 PMID:15229184 PMID:20412081 PMID:20529958 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		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 ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
DNA:mutation:splicing site: 		OMIM
ClinVar
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		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 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:78,124,872...78,247,672
Ensembl chr 6:78,124,872...78,247,648 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:78,090,843...78,094,888
Ensembl chr 6:78,090,843...78,094,888 		JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:78,367,780...78,382,703
Ensembl chr 6:78,367,780...78,392,836 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:12167702 PMID:14523047 PMID:15337789 PMID:17576681 More... NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072 		JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:78,382,849...78,406,037
Ensembl chr 6:78,382,855...78,406,201 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:78,404,821...78,497,562
Ensembl chr 6:78,405,980...78,497,761 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:78,500,676...78,531,693
Ensembl chr 6:78,500,736...78,531,717 		JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:78,322,308...78,362,017
Ensembl chr 6:78,322,721...78,362,031 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      ectodermal dysplasia 550
        hypohidrotic ectodermal dysplasia 29
          Ectodermal dysplasia 17 with or without limb malformations 1
          Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          ectodermal dysplasia 1 + 3
          ectodermal dysplasia 10A 9
          ectodermal dysplasia 10B 9
          ectodermal dysplasia 11A 1
          ectodermal dysplasia 11B 3
          ectodermal dysplasia 12 1
          ectodermal dysplasia 15 1
          ectodermal dysplasia and immune deficiency + 10
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            mouth disease 1044
              tooth disease 468
                Tooth Abnormalities 301
                  tooth agenesis 87
                    anodontia 77
                      hypohidrotic ectodermal dysplasia 29
                        Ectodermal dysplasia 17 with or without limb malformations 1
                        Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
                        Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                        ectodermal dysplasia 1 + 3
                        ectodermal dysplasia 10A 9
                        ectodermal dysplasia 10B 9
                        ectodermal dysplasia 11A 1
                        ectodermal dysplasia 11B 3
                        ectodermal dysplasia 12 1
                        ectodermal dysplasia 15 1
                        ectodermal dysplasia and immune deficiency + 10
paths to the root