Human Phenotype Ontology 
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Proximal muscle weakness (HP:0003701)help
..Starting node
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Late-onset proximal muscle weakness (HP:0003694)help
Term ID: 3694
Name: Late-onset proximal muscle weakness
Synonym:
Definition: Lack of strength of the proximal musculature occurring late in the clinical course.
Comments:
Reference: HP:0003694
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGowers sign (HP:0003391) help
..expandProgressive proximal muscle weakness (HP:0009073) help
..expandProximal muscle weakness in lower limbs (HP:0008994) help
..expandProximal muscle weakness in upper limbs (HP:0008997) 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:0003694HP:0003694Late-onset proximal muscle weakness0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040283 - Occasional247
HP:0003694HP:0003694Late-onset proximal muscle weakness0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional247
HP:0003694HP:0003694Late-onset proximal muscle weakness0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0003694HP:0003694Late-onset proximal muscle weakness0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0003694HP:0003694Late-onset proximal muscle weakness0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional
HP:0003694HP:0003694Late-onset proximal muscle weakness0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040283 - Occasional73
HP:0003694HP:0003694Late-onset proximal muscle weakness0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional10
HP:0003694HP:0003694Late-onset proximal muscle weakness0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040283 - Occasional263


Genes (7) :CACNA1S CRYAB DES GABRA3 KCNE3 KCNJ18 SCN4A

Diseases (4) :ORPHA:681 ORPHA:79102 OMIM:608810 OMIM:601419
 

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