Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Muscle weakness (HP:0001324)help
..Starting node
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Scapuloperoneal weakness (HP:0003704)help
Term ID: 3704
Name: Scapuloperoneal weakness
Synonym: Neurogenic scapuloperoneal syndrome
Definition:
Comments:
Reference: HP:0003704
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandMuscle flaccidity (HP:0010547) help
..expandNeck muscle weakness (HP:0000467) help
..expandPoor head control (HP:0002421) help
..expandProgressive muscle weakness (HP:0003323) help
..expandProximal muscle weakness (HP:0003701) help
..expandWeakness of muscles of respiration (HP:0004347) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) 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:0003704HP:0003704Scapuloperoneal weakness0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type.263
HP:0003704HP:0003704Scapuloperoneal weakness0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy.68
HP:0003704HP:0003704Scapuloperoneal weakness0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage.1269
HP:0003704HP:0003704Scapuloperoneal weakness0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive.1269


Genes (3) :DES FHL1 MYH7

Diseases (4) :OMIM:181400 OMIM:300696 OMIM:608358 OMIM:255160
 

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