Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
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Abnormal muscle fiber morphology (HP:0004303)help
..Starting node
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Deposits immunoreactive to beta-amyloid protein (HP:0003791)help
Term ID: 3791
Name: Deposits immunoreactive to beta-amyloid protein
Synonym:
Definition:
Comments:
Reference: HP:0003791
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal muscle fiber protein expression (HP:0030089) help
..expandAbnormal muscle glycogen content (HP:0012269) help
..expandAbnormality of skeletal muscle fiber size (HP:0012084) help
..expandAutophagic vacuoles (HP:0003736) help
..expandCentral core regions in muscle fibers (HP:0030230) help
..expandCentrally nucleated skeletal muscle fibers (HP:0003687) help
..expandHypertrophied muscle fibers (HP:0100293) help
..expandIncreased endomysial connective tissue (HP:0100297) help
..expandIncreased muscle lipid content (HP:0009058) help
..expandInternally nucleated skeletal muscle fibers (HP:0031237) help
..expandMotheaten muscle fibers (HP:0100298) help
..expandMuscle fiber atrophy (HP:0100295) help
..expandMuscle fiber inclusion bodies (HP:0100299) help
..expandMuscle fiber necrosis (HP:0003713) help
..expandMuscle fiber splitting (HP:0003555) help
..expandMyelin-like whorls in vacuolated fibers (HP:0031542) help
..expandNecklace skeletal muscle fibers (HP:0031238) help
..expandPerifascicular muscle fiber atrophy (HP:0100296) help
..expandRagged-red muscle fibers (HP:0003200) help
..expandReduced muscle carnitine level (HP:0030362) help
..expandRimmed vacuoles (HP:0003805) help
..expandRing fibers (HP:0100305) help
..expandType 1 muscle fiber predominance (HP:0003803) help
..expandType 2 muscle fiber predominance (HP:0010602) 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:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1HP:0040283 - Occasional600
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0GNE CL E G H1002023657OMIM:605820Nonaka myopathy.173
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0003791HP:0003791Deposits immunoreactive to beta-amyloid protein0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31


Genes (9) :ABCA7 APP DYSF GNE PSEN1 PSEN2 SORL1 TOMM40 TREM2

Diseases (3) :ORPHA:1020 OMIM:254130 OMIM:605820
 

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