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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:anhidrosis
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Accession:DOID:11156 term browser browse the term
Definition:A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. (DO)
Synonyms:exact_synonym: absence of sweating;   adiaphoresis
 narrow_synonym: familial generalized anhidrosis with abnormal or absent sweat glands;   familial generalized anhidrosis with normal sweat glands
 primary_id: OMIM:206600
 xref: ICD9CM:705.0;   NCI:C34385
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO 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		 OMIM
ClinVar		 PMID:77656 PMID:0233776 PMID:8696348 PMID:10090906 PMID:10233776 PMID:10330344 PMID:10443680 PMID:10861667 PMID:10982191 PMID:11071380 PMID:11139246 PMID:11159935 PMID:11310631 PMID:11668614 PMID:11719521 PMID:11748840 PMID:12210794 PMID:12406349 PMID:12949319 PMID:15534759 PMID:16373086 PMID:18056464 PMID:18179783 PMID:18322713 PMID:19250380 PMID:19598235 PMID:19618435 PMID:19651702 PMID:20003389 PMID:21708027 PMID:22032467 PMID:22302274 PMID:22397633 PMID:22653642 PMID:22957891 PMID:23112235 PMID:23241418 PMID:23799134 PMID:24088041 PMID:24154508 PMID:25359976 PMID:25741868 PMID:26215504 PMID:26467025 PMID:26633545 PMID:27058611 PMID:27265460 PMID:27544236 PMID:27551041 PMID:27676246 PMID:27698470 PMID:28192073 PMID:28328124 PMID:28345382 PMID:28492532 PMID:28981924 PMID:29619836 PMID:29770739 PMID:30774415 PMID:32214227 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373 		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: Anhidrosis, isolated, with normal sweat glands OMIM
ClinVar		 PMID:25329695 NCBI chr 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358 		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: Splenomegaly, cytopenia, and vision loss ClinVar
OMIM		 PMID:25741868 PMID:30967659 PMID:31939038 NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      skin disease 2715
        sweat gland disease 40
          hypohidrosis 22
            anhidrosis 4
              Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
              hereditary sensory neuropathy type 4 2
              isolated anhidrosis with normal sweat glands 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          skin disease 2715
            sweat gland disease 40
              hypohidrosis 22
                anhidrosis 4
                  Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
                  hereditary sensory neuropathy type 4 2
                  isolated anhidrosis with normal sweat glands 1
paths to the root