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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: EFO:1000670;   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 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 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		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 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800 		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:233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		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 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810 		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
ISS		 OMIM:106190
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands		 OMIM
MouseDO
CTD
ClinVar		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164 		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: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME | ClinVar Annotator: match by term: ROSAH syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    sensory system disease 6867
      skin disease 3899
        sweat gland disease 151
          hypohidrosis 37
            anhidrosis 6
              Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
              hereditary sensory neuropathy type 4 4
              isolated anhidrosis with normal sweat glands 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        Neurologic Manifestations 9971
          sensory system disease 6867
            skin disease 3899
              sweat gland disease 151
                hypohidrosis 37
                  anhidrosis 6
                    Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
                    hereditary sensory neuropathy type 4 4
                    isolated anhidrosis with normal sweat glands 1
paths to the root