Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal blood chloride concentration (HP:0011422)help
Parent Node:
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Abnormal sweat homeostasis (HP:0040127)help
..Starting node
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Elevated sweat chloride (HP:0012236)help
Term ID: 12236
Name: Elevated sweat chloride
Synonym: Elevated sweat chloride; Elevated sweat Cl; Elevated sweat Cl-
Definition: An increased concentration of chloride in the sweat.
Comments:
Reference: HP:0012236
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal sweat electrolytes (HP:0040128) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012236HP:0012236Elevated sweat chloride0CA12 CL E G H7711371OMIM:143860Hyperchlorhidrosis, isolated4
HP:0012236HP:0012236Elevated sweat chloride0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0012236HP:0012236Elevated sweat chloride0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0012236HP:0012236Elevated sweat chloride0CFTR CL E G H10801884OMIM:211400Bronchiectasis with or without elevated sweat chloride 1HP:0040283 - Occasional1371
HP:0012236HP:0012236Elevated sweat chloride0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0012236HP:0012236Elevated sweat chloride0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0012236HP:0012236Elevated sweat chloride0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0012236HP:0012236Elevated sweat chloride0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0012236HP:0012236Elevated sweat chloride0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0012236HP:0012236Elevated sweat chloride0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0012236HP:0012236Elevated sweat chloride0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0012236HP:0012236Elevated sweat chloride0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0012236HP:0012236Elevated sweat chloride0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0012236HP:0012236Elevated sweat chloride0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0012236HP:0012236Elevated sweat chloride0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0012236HP:0012236Elevated sweat chloride0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0012236HP:0012236Elevated sweat chloride0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0012236HP:0012236Elevated sweat chloride0SCNN1A CL E G H633710599OMIM:613021Bronchiectasis with or without elevated sweat chloride 2HP:0040283 - Occasional67
HP:0012236HP:0012236Elevated sweat chloride0SCNN1B CL E G H633810600OMIM:211400Bronchiectasis with or without elevated sweat chloride 1HP:0040283 - Occasional61
HP:0012236HP:0012236Elevated sweat chloride0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0012236HP:0012236Elevated sweat chloride0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0012236HP:0012236Elevated sweat chloride0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0012236HP:0012236Elevated sweat chloride0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0012236HP:0012236Elevated sweat chloride0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0012236HP:0012236Elevated sweat chloride0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0012236HP:0012236Elevated sweat chloride0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0012236HP:0012236Elevated sweat chloride0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13


Genes (24) :CA12 CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA FCGR2A FUCA1 GCLC GSTM3 HFE HMOX1 KCNN4 MIF SCNN1A SCNN1B SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1

Diseases (6) :OMIM:143860 ORPHA:586 OMIM:211400 OMIM:219700 OMIM:230000 OMIM:613021
 

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