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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: MIM:206600
 xref: EFO:1000670;   ICD9CM:705.0;   NCI:C34385
For additional species annotation, visit the Alliance of Genome Resources.

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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 chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299 		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 chr20:7,008,882...7,029,377
Ensembl chr20:7,010,504...7,028,557 		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: NTRK1-related condition | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis OMIM
ClinVar		 PMID:77656 PMID:0233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670 		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 chr20:7,052,170...7,063,262
Ensembl chr20:7,052,797...7,062,324 		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: ITPR2-related condition | ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands OMIM
ClinVar		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr11:26,089,480...26,574,621
Ensembl chr11:26,089,484...26,574,950 		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 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    sensory system disease 6938
      skin disease 4059
        sweat gland disease 150
          hypohidrosis 35
            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 15416
    disease of anatomical entity 15079
      nervous system disease 13229
        Neurologic Manifestations 9821
          sensory system disease 6938
            skin disease 4059
              sweat gland disease 150
                hypohidrosis 35
                  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