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.

Absent muscle dystrophin expression

ID: HP:0030097

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

Label: Absent muscle dystrophin expression

Synonyms: Absent muscle dystrophin expression

Alternative IDs: als

API: GO

SPARQL: GO

Similar Entities

Absent muscle dystrophin expression

HP:0030097
Abnormal muscle fiber dystrophin expression

HP:0030096
Reduced muscle dystrophin expression

HP:0030098
Reduced muscle collagen VI

HP:0030095
Reduced muscle fiber alpha dystroglycan

HP:0030099
Reduced muscle fiber alpha sarcoglycan

HP:0030102
Absent muscle fiber beta sarcoglyan

HP:0030106
Reduced muscle fiber gamma sarcoglycan

HP:0030108
Abnormal muscle fiber protein expression

HP:0030089
Abnormal muscle fiber gamma sarcoglycan

HP:0030104
Abnormal muscle fiber delta sarcoglycan

HP:0030105
Reduced muscle fiber delta sarcoglycan

HP:0030111
Absent muscle fiber merosin

HP:0030091
Abnormal muscle fiber beta sarcoglycan

HP:0030103
Abnormal muscle fiber merosin expression

HP:0030090
Absent muscle fiber delta sarcoglycan

HP:0030110
Reduced muscle fiber merosin

HP:0030092
Abnormal muscle fiber laminin beta 1

HP:0030093
Reduced muscle fiber beta sarcoglycan

HP:0030107
Reduced muscle fiber laminin beta 1

HP:0030094
Accumulation of muscle fiber myotilin

HP:0030227
Absent muscle fiber emerin

HP:0030117
Absent muscle fiber dysferlin

HP:0030114
Absent muscle fiber calpain-3

HP:0030120
Absent muscle fiber alpha sarcoglycan

HP:0030101
Absent muscle fiber gamma sarcoglycan

HP:0030109
Abnormal muscle fiber alpha sarcoglycan

HP:0030100
Abnormal muscle fiber emerin

HP:0030116
Abnormal muscle fiber myotilin

HP:0030226
Abnormal muscle fiber calpain-3

HP:0030119
Accumulation of muscle fiber valosin-containing protein

HP:0030229
Abnormal muscle fiber dysferlin

HP:0030113
Abnormal muscle fiber lamin A/C

HP:0030123
Abnormal muscle fiber valosin-containing protein

HP:0030228
Abnormal muscle fiber alpha dystroglycan

HP:0030112
Accumulation of muscle fiber desmin

HP:0030225
Reduced muscle fiber calpain-3

HP:0030121
Type 2 muscle fiber predominance

HP:0010602
Reduced muscle fiber perlecan

HP:0030122
Muscle fiber necrosis

HP:0003713
Reduced muscle fiber emerin

HP:0030118
Type 1 muscle fiber predominance

HP:0003803
Reduced muscle fiber dysferlin

HP:0030115
Increased sarcoplasmic glycogen

HP:0030232
Increased intramyocellular lipid droplets

HP:0012240
Reduced muscle fiber lamin A/C

HP:0030124
Hypoglycosylation of alpha-dystroglycan

HP:0030046
Abnormal muscle fiber desmin

HP:0030224
Muscle fiber intranuclear inclusion bodies

HP:0100304
Rimmed vacuoles

HP:0003805
Ragged-red muscle fibers

HP:0003200
Hypoplasia of the upper arm musculature

HP:0030239
Muscle fiber splitting

HP:0003555
Abnormal muscle glycogen content

HP:0012269
Muscle fiber atrophy

HP:0100295
Type 1 fibers relatively smaller than type 2 fibers

HP:0003755
Glycogen accumulation in muscle fiber lysosomes

HP:0030231
Increased muscle lipid content

HP:0009058
Decreased muscle glycogen content

HP:0012270
Type 2 muscle fiber atrophy

HP:0003554
Motheaten muscle fibers

HP:0100298
Autophagic vacuoles

HP:0003736
Progressive loss of facial adipose tissue

HP:0009019
Deposits immunoreactive to beta-amyloid protein

HP:0003791
miscellaneous mesenchymal neoplasm

DOID:5312
Rectus femoris muscle atrophy

HP:0040191
Type 1 muscle fiber atrophy

HP:0011807
rete ovarii neoplasm

DOID:4895
Intracranial neurenteric cyst

HP:0030727
Sperm neck anomaly

HP:0012866
Perifascicular muscle fiber atrophy

HP:0100296
Increased muscle glycogen content

HP:0009051
TIRAP-dependent toll-like receptor signaling pathway

GO:0035664
Central core regions in muscle fibers

HP:0030230
Muscle fiber inclusion bodies

HP:0100299
Gonadotropin deficiency

HP:0008213
Muscle fiber hypertrophy

HP:0100293
negative regulation of CD8-positive

GO:2000450
Reduced muscle carnitine level

HP:0030362
Ring fibers

HP:0100305
Pretesticular azoospermia

HP:0011963
Necrotizing myopathy

HP:0008978
Aplasia/Hypoplasia of the triceps

HP:0009784
Amyoplasia

HP:0003634
Centrally nucleated skeletal muscle fibers

HP:0003687
Neurenteric cyst

HP:0030725
Joint contracture of the 3rd finger

HP:0009319
Contracture of the metacarpophalangeal joint of the 4th finger

HP:0009277
neuromast deposition

GO:0048885
twitch skeletal muscle contraction

GO:0014721
Histoplasma capsulatum gastritis

DOID:0050225
Desmin bodies

HP:0100300
Renal juxtaglomerular cell hypertrophy/hyperplasia

HP:0000111
Biceps hypoplasia

HP:0009007
uterine corpus adenomatoid tumor

DOID:1371
infectious disease of the breast and nipple associated with childbirth

DOID:9450
Abnormality of muscle fibers

HP:0004303
Anomalous muscle bundle of the right ventricle

HP:0030740
Widened cerebellar subarachnoid space

HP:0012765
Aplasia/Hypoplasia involving the musculature of the upper arm

HP:0001468

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