rare disease | Q929833 |
class of disease | Q112193867 |
syndrome | Q179630 |
autosomal recessive disease | Q10267817 |
autosomal dominant hereditary sensory and autonomic neuropathy | Q55785424 |
cold-induced sweating syndrome-hyperthermia spectrum | Q55788078 |
P699 | Disease Ontology ID | DOID:0060294 |
P2888 | exact match | http://www.orpha.net/ORDO/Orphanet_157820 |
http://identifiers.org/doid/DOID:0060294 | ||
http://purl.obolibrary.org/obo/DOID_0060294 | ||
P4317 | GARD rare disease ID | 1611 |
P494 | ICD-10 ID | Q87.0 |
P4229 | ICD-10-CM | G90.8 |
P7807 | ICD-11 ID (Foundation) | 1884908195 |
P665 | KEGG ID | H00935 |
P486 | MeSH descriptor ID | C536214 |
P5270 | Mondo ID | MONDO_0015526 |
P1748 | NCI Thesaurus ID | C173147 |
P1550 | Orphanet ID | 157820 |
P2892 | UMLS CUI | C1832409 |
P2293 | genetic association | CRLF1 | Q18033938 |
CLCF1 | Q18037245 | ||
KLHL7 | Q18042201 | ||
P1995 | health specialty | medical genetics | Q1071953 |
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
Q47695483 | Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1. |
Q40345394 | Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. |
Q28075543 | Cold-Induced Sweating Syndrome Including Crisponi Syndrome |
Q24610978 | Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene |
Q40235537 | Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome |
Q28274287 | Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation |
Q43095132 | Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases |
Q48429298 | Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. |
Q24682743 | Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 |
Q24550951 | Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient |
Q48355682 | Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene |
Q35840736 | Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1. |
Crisponi-Syndrom | wikipedia |
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