Bio2Vec

BIO-KNOWLEDGE-GRAPH

A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are generated with Walking RDF and OWL method.

Abnormal muscle fiber emerin

ID: HP:0030116

Type: http://bio2vec.net/ontology/phenotype

Label: Abnormal muscle fiber emerin

Synonyms: Abnormal muscle fiber emerin

Alternative IDs: als

API: GO

SPARQL: GO

Similar Entities

Abnormal muscle fiber emerin

HP:0030116
Absent muscle fiber emerin

HP:0030117
Reduced muscle fiber emerin

HP:0030118
Absent muscle fiber beta sarcoglyan

HP:0030106
Abnormal muscle fiber calpain-3

HP:0030119
Abnormal muscle fiber gamma sarcoglycan

HP:0030104
Reduced muscle fiber perlecan

HP:0030122
Absent muscle fiber dysferlin

HP:0030114
Reduced muscle fiber gamma sarcoglycan

HP:0030108
Absent muscle fiber calpain-3

HP:0030120
Absent muscle fiber gamma sarcoglycan

HP:0030109
Abnormal muscle fiber dysferlin

HP:0030113
Reduced muscle fiber alpha dystroglycan

HP:0030099
Reduced muscle fiber dysferlin

HP:0030115
Abnormal muscle fiber protein expression

HP:0030089
Reduced muscle fiber beta sarcoglycan

HP:0030107
Abnormal muscle fiber myotilin

HP:0030226
Reduced muscle collagen VI

HP:0030095
Accumulation of muscle fiber valosin-containing protein

HP:0030229
Abnormal muscle fiber valosin-containing protein

HP:0030228
Abnormal muscle fiber alpha sarcoglycan

HP:0030100
Autophagic vacuoles

HP:0003736
Abnormal muscle fiber lamin A/C

HP:0030123
Absent muscle dystrophin expression

HP:0030097
Type 1 muscle fiber atrophy

HP:0011807
Increased sarcoplasmic glycogen

HP:0030232
Abnormal muscle fiber beta sarcoglycan

HP:0030103
Abnormal muscle fiber delta sarcoglycan

HP:0030105
Type 1 muscle fiber predominance

HP:0003803
Absent muscle fiber merosin

HP:0030091
Reduced muscle fiber delta sarcoglycan

HP:0030111
Reduced muscle fiber alpha sarcoglycan

HP:0030102
Abnormal muscle glycogen content

HP:0012269
Reduced muscle fiber calpain-3

HP:0030121
Abnormal muscle fiber merosin expression

HP:0030090
Abnormal muscle fiber alpha dystroglycan

HP:0030112
Absent muscle fiber alpha sarcoglycan

HP:0030101
Accumulation of muscle fiber myotilin

HP:0030227
Type 2 muscle fiber predominance

HP:0010602
Abnormal muscle fiber dystrophin expression

HP:0030096
Central core regions in muscle fibers

HP:0030230
Abnormal muscle fiber laminin beta 1

HP:0030093
Increased endomysial connective tissue

HP:0100297
Muscle fiber atrophy

HP:0100295
Accumulation of muscle fiber desmin

HP:0030225
Muscle fiber tubuloreticular inclusions

HP:0100302
Reduced muscle fiber merosin

HP:0030092
Absent muscle fiber delta sarcoglycan

HP:0030110
Hypoglycosylation of alpha-dystroglycan

HP:0030046
Muscle fiber necrosis

HP:0003713
Reduced muscle dystrophin expression

HP:0030098
Increased muscle glycogen content

HP:0009051
Abnormal muscle fiber desmin

HP:0030224
Ragged-red muscle fibers

HP:0003200
Glycogen accumulation in muscle fiber lysosomes

HP:0030231
Increased intramyocellular lipid droplets

HP:0012240
Type 1 fibers relatively smaller than type 2 fibers

HP:0003755
Muscle fiber cytoplasmatic inclusion bodies

HP:0100303
Increased muscle lipid content

HP:0009058
Reduced muscle fiber laminin beta 1

HP:0030094
Type 2 muscle fiber atrophy

HP:0003554
Necrotizing myopathy

HP:0008978
Muscle fiber splitting

HP:0003555
Muscle fiber tubular inclusions

HP:0100301
Reduced muscle fiber lamin A/C

HP:0030124
Perifascicular muscle fiber atrophy

HP:0100296
Muscle fiber hypertrophy

HP:0100293
Bullet-shaped middle phalanx of the 4th finger

HP:0009296
Abnormality of masseter muscle

HP:3000005
Hemimacroglossia

HP:0100875
Centrally nucleated skeletal muscle fibers

HP:0003687
Desmin bodies

HP:0100300
Abnormality of muscle fibers

HP:0004303
Decreased muscle glycogen content

HP:0012270
Slender middle phalanx of finger

HP:0012295
Deposits immunoreactive to beta-amyloid protein

HP:0003791
Reduced muscle carnitine level

HP:0030362
Rimmed vacuoles

HP:0003805
Fatty replacement of skeletal muscle

HP:0012548
no_name

GO:0031189
Muscle fiber inclusion bodies

HP:0100299
Marked muscular hypertrophy

HP:0009042
Abnormality of intrinsic muscle of tongue

HP:3000064
Bullet-shaped middle phalanges of the hand

HP:0009845
Firm muscles

HP:0003725
Tibialis atrophy

HP:0011399
Incomplete cleft of the upper lip

HP:0011340
Bullet-shaped phalanges of the hand

HP:0009769
Abnormality of orbicularis oris muscle

HP:3000010
Scapuloperoneal amyotrophy

HP:0003697
Distal arthrogryposis

HP:0005684
Muscle fiber intranuclear inclusion bodies

HP:0100304
Joint contracture of the 3rd finger

HP:0009319
Arthrogryposis-like hand anomaly

HP:0005612
Aplasia/Hypoplasia involving the musculature of the upper arm

HP:0001468
Motheaten muscle fibers

HP:0100298
Elevated factor V activity

HP:0011996
Muscle fiber hyaline bodies

HP:0100306
Abnormality of masticatory muscle

HP:0410011
Hypoplasia of the upper arm musculature

HP:0030239

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