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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 chr 5:15,876,527...15,879,608
Ensembl chr 5:15,876,407...15,880,067 		JBrowse link
G COG6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Hypohidrosis ClinVar PMID:23606727 PMID:25558065 PMID:25741868 NCBI chr11:14,576,194...14,737,836
Ensembl chr11:14,576,214...14,649,795 		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 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		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 OMIM
ClinVar		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999 		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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100623441 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867 		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 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187 		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 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943 		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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		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 OMIM
ClinVar		 PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:25741868 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999 		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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 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:16435307 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100623441 sulfotransferase 1C4 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 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867 		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 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 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 chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187 		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 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943 		JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated 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 chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		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 OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041 		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 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415 		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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G 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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		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 OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		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 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512 		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 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO 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
ClinVar		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		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 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921 		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 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428 		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 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491 		JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195 		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 ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO 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: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis OMIM
ClinVar		 PMID:77656 PMID:0233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G TRAF6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:24,602,749...24,628,263
Ensembl chr 2:24,602,804...24,626,072 		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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		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 ISO ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands OMIM
ClinVar		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: NFJ syndrome | ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome OMIM
ClinVar		 PMID:8496458 PMID:13141721 PMID:16960809 PMID:25741868 PMID:28492532 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		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 ISO ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,227...110,367,912 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    sensory system disease 6894
      skin disease 4051
        sweat gland disease 152
          hypohidrosis 36
            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 + 6
            hypohidrotic ectodermal dysplasia + 27
Path 2
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      nervous system disease 13228
        Neurologic Manifestations 9795
          sensory system disease 6894
            skin disease 4051
              sweat gland disease 152
                hypohidrosis 36
                  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 + 6
                  hypohidrotic ectodermal dysplasia + 27
paths to the root