Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limbs (HP:0040064)help
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
..Starting node
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Generalized weakness of limb muscles (HP:0009028)help
Term ID: 9028
Name: Generalized weakness of limb muscles
Synonym: Generalised weakness of limb muscles
Definition: Generalized weakness of the muscles of the arms and legs.
Comments:
Reference: HP:0009028
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the musculature of the lower limbs (HP:0001437) help
..expandAbnormality of the musculature of the upper limbs (HP:0001446) help
..expandAplasia/Hypoplasia involving the musculature of the extremities (HP:0009128) help
..expandAsymmetric limb muscle stiffness (HP:0007156) help
..expandLimb hypertonia (HP:0002509) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle atrophy (HP:0003797) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandProximal limb muscle stiffness (HP:0007066) 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:0009028HP:0009028Generalized weakness of limb muscles0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0009028HP:0009028Generalized weakness of limb muscles0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0009028HP:0009028Generalized weakness of limb muscles0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0009028HP:0009028Generalized weakness of limb muscles0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0009028HP:0009028Generalized weakness of limb muscles0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34


Genes (5) :ALG14 ALG2 DPAGT1 GFPT1 GMPPB

Diseases (1) :ORPHA:353327
 

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