cold-induced sweating syndrome 1 - Ontology Report

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:	cold-induced sweating syndrome 1	go back to main search page
Accession:	DOID:0080329	browse the term
Definition:	A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (DO)
Synonyms:	exact_synonym:	CISS1; Crisponi/cold-induced sweating syndrome 1; tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death
	primary_id:	OMIM:272430
	xref:	NCI:C173147

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Genes (2)

cold-induced sweating syndrome 1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Crlf1

cytokine receptor like factor 1

ISO

ClinVar Annotator: match by term: Cold-induced sweating syndrome 1

OMIM
ClinVar

PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More...

NCBI chrNW_004955524:2,998,258...3,003,553
Ensembl chrNW_004955524:2,998,260...3,003,283

Klhl7

kelch like family member 7

ISO

ClinVar Annotator: match by term: Cold-induced sweating syndrome 1

ClinVar

PMID:25741868 PMID:27392078

NCBI chrNW_004955410:25,406,775...25,477,552
Ensembl chrNW_004955410:25,406,386...25,478,111

Term paths to the root

Path 1
Term	Annotations
disease	16063
syndrome	9329
cold-induced sweating syndrome	3
cold-induced sweating syndrome 1	2
Path 2
Term	Annotations
disease	16063
disease of anatomical entity	13820
nervous system disease	12088
Neurologic Manifestations	8844
sensory system disease	6162
skin disease	3500
sweat gland disease	140
Hyperhidrosis	6
cold-induced sweating syndrome	3
cold-induced sweating syndrome 1	2

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS