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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Anhidrosis
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Accession:HP:0000970 term browser browse the term
Definition:Inability to sweat.
Synonyms:exact_synonym: Anhydrosis;   Lack of sweating;   Sudomotor dysfunction;   Sweating dysfunction
 xref: MEDDRA:10002512 "Anhidrosis";   SNOMEDCT_US:14662005;   SNOMEDCT_US:39659002;   UMLS:C0003028



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Anhidrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:626 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO MIM:242100 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP HPO MIM:242100 MIM:606545 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ALPK1 alpha kinase 1 IAGP HPO MIM:614979 NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO MIM:262000 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:626 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP HPO MIM:617799 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
JBrowse link
G CLDN10 claudin 10 IAGP HPO MIM:617671 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO MIM:146500 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO MIM:620331 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:305100 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 IAGP HPO MIM:224900 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 HPO MIM:224900 MIM:614940 MIM:614941 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
JBrowse link
G KIF1A kinesin family member 1A IAGP HPO MIM:201300 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO MIM:612132 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G NGF nerve growth factor IAGP HPO MIM:608654 ORPHA:64752 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO MIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:626 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO MIM:256800 ORPHA:642 ORPHA:64752 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G PAX9 paired box 9 IAGP HPO MIM:604625 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO MIM:619209 ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
JBrowse link
G PKP1 plakophilin 1 IAGP HPO MIM:604536 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:626 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO MIM:201300 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:466650 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO MIM:201300 MIM:243000 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:626 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP HPO MIM:613640 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:106260 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO MIM:201300 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:626 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73897
    Phenotypic abnormality 73592
      Abnormality of the integument 6109
        Abnormality of skin adnexa physiology 236
          Anhidrosis 38
paths to the root