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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.


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 IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875 		JBrowse link
G INSRR insulin receptor related receptor IAGP ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117 		JBrowse link
G LOC129931648 ATAC-STARR-seq lymphoblastoid silent region 1440 IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: NTRK1-related condition		 ClinVar PMID:10330344 PMID:10982191 PMID:20301726 PMID:25741868 PMID:28328124 More... NCBI chr 1:156,860,931...156,860,980 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: HSAN 4
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: NTRK1-related condition
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: NTRK1-related condition | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: NTRK1-related condition
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: NTRK1-related condition
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis
ClinVar Annotator: match by term: HSAN 4 | 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
OMIM		 PMID:77656 PMID:0233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G SH2D2A SH2 domain containing 2A IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 1:156,806,243...156,816,848
Ensembl chr 1:156,806,240...156,816,848 		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 IAGP
ISS		 ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands
ClinVar Annotator: match by term: ITPR2-related condition | ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands
OMIM:106190		 ClinVar
MouseDO
OMIM		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194 		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 IAGP ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
ClinVar Annotator: match by term: ALPK1-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 53596
    sensory system disease 12827
      skin disease 6570
        sweat gland disease 177
          hypohidrosis 45
            anhidrosis 7
              Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
              hereditary sensory neuropathy type 4 5
              isolated anhidrosis with normal sweat glands 1
Path 2
Term Annotations click to browse term
  disease 53596
    disease of anatomical entity 49284
      nervous system disease 34048
        Neurologic Manifestations 18593
          sensory system disease 12827
            skin disease 6570
              sweat gland disease 177
                hypohidrosis 45
                  anhidrosis 7
                    Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
                    hereditary sensory neuropathy type 4 5
                    isolated anhidrosis with normal sweat glands 1
paths to the root