Human Phenotype Ontology 
Grandparent Node:
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Respiratory insufficiency (HP:0002093)help
Parent Node:
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Respiratory arrest (HP:0005943)help
..Starting node
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Cardiorespiratory arrest (HP:0006543)help
Term ID: 6543
Name: Cardiorespiratory arrest
Synonym:
Definition:
Comments:
Reference: HP:0006543
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:0006543HP:0006543Cardiorespiratory arrest0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0006543HP:0006543Cardiorespiratory arrest0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040283 - Occasional284
HP:0006543HP:0006543Cardiorespiratory arrest0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0006543HP:0006543Cardiorespiratory arrest0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0006543HP:0006543Cardiorespiratory arrest0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0006543HP:0006543Cardiorespiratory arrest0KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosisHP:0040283 - Occasional327
HP:0006543HP:0006543Cardiorespiratory arrest0LAMP2 CL E G H39206501ORPHA:34587Glycogen storage disease due to LAMP-2 deficiencyHP:0040281 - Very frequent211
HP:0006543HP:0006543Cardiorespiratory arrest0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0006543HP:0006543Cardiorespiratory arrest0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0006543HP:0006543Cardiorespiratory arrest0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0006543HP:0006543Cardiorespiratory arrest0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.HP:0003593 - Infantile onset1
HP:0006543HP:0006543Cardiorespiratory arrest0TXNDC15 CL E G H7977020652OMIM:6198792


Genes (12) :B3GALT6 COL2A1 DDC EXOC6B GPX4 KIT LAMP2 MYL2 SLC25A20 SLC2A10 TSPYL1 TXNDC15

Diseases (11) :ORPHA:93359 ORPHA:93296 OMIM:608643 ORPHA:93317 ORPHA:280785 ORPHA:34587 OMIM:619424 OMIM:212138 ORPHA:3342 OMIM:608800 OMIM:619879
 

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