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
Accession: DOID:11156
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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 .
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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
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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
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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
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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
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