Human Phenotype Ontology 
Grandparent Node:
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Muscle spasm (HP:0003394)help
Parent Node:
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Cold-induced muscle cramps (HP:0003449)help
..Starting node
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Cold-induced hand cramps (HP:0003435)help
Term ID: 3435
Name: Cold-induced hand cramps
Synonym:
Definition:
Comments:
Reference: HP:0003435
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003435HP:0003435Cold-induced hand cramps0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003435HP:0003435Cold-induced hand cramps0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0003435HP:0003435Cold-induced hand cramps0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003435HP:0003435Cold-induced hand cramps0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003435HP:0003435Cold-induced hand cramps0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87


Genes (3) :BSCL2 GARS1 REEP1

Diseases (3) :ORPHA:139536 OMIM:601472 OMIM:600794
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.