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Phenotypic Abnormality (PA): Abnormal muscle fiber morphology

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Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ + + 3:   Phenotypic abnormality [HP:0000118] <25>
+ + 2:   Abnormality of the musculature [HP:0003011] <3>(64|83) (70|33|9)
+ 1:   Abnormal skeletal muscle morphology [HP:0011805] <38>(30|36) (35|14|4)
0:   Abnormal muscle fiber morphology [HP:0004303] <25>(6|5) (6|2|0)
- 1:   Abnormal muscle fiber protein expression [HP:0030089] <17>(2|1) (2|1|0)
- 1:   Muscle fiber inclusion bodies [HP:0100299] <3>(3|2) (3|0|0)
- 1:   Abnormal muscle glycogen content [HP:0012269] <2>(0|0) (0|0|0)
- 1:   Abnormality of skeletal muscle fiber size [HP:0012084] <2>(1|1) (1|1|0)
- 1:   Muscle fiber atrophy [HP:0100295] <2>(0|1) (0|0|0)
- 1:   Increased muscle lipid content [HP:0009058] <1>(0|0) (0|0|0)
- 1:   Autophagic vacuoles [HP:0003736](0|0) (0|0|0)
- 1:   Central core regions in muscle fibers [HP:0030230](0|0) (0|0|0)
- 1:   Centrally nucleated skeletal muscle fibers [HP:0003687](0|0) (0|0|0)
- 1:   Deposits immunoreactive to beta-amyloid protein [HP:0003791](0|0) (0|0|0)
- 1:   Increased endomysial connective tissue [HP:0100297](1|1) (1|1|0)
- 1:   Internally nucleated skeletal muscle fibers [HP:0031237](0|0) (0|0|0)
- 1:   Motheaten muscle fibers [HP:0100298](0|0) (0|0|0)
- 1:   Muscle fiber hypertrophy [HP:0100293](0|0) (0|0|0)
- 1:   Muscle fiber necrosis [HP:0003713](1|1) (1|1|0)
- 1:   Muscle fiber splitting [HP:0003555](0|0) (0|0|0)
- 1:   Myelin-like whorls in vacuolated fibers [HP:0031542](0|0) (0|0|0)
- 1:   Necklace skeletal muscle fibers [HP:0031238](0|0) (0|0|0)
- 1:   Perifascicular muscle fiber atrophy [HP:0100296](0|0) (0|0|0)
- 1:   Ragged-red muscle fibers [HP:0003200](0|0) (0|0|0)
- 1:   Reduced muscle carnitine level [HP:0030362](0|0) (0|0|0)
- 1:   Rimmed vacuoles [HP:0003805](1|1) (1|1|0)
- 1:   Ring fibers [HP:0100305](0|0) (0|0|0)
- 1:   Type 1 muscle fiber predominance [HP:0003803](1|1) (2|1|0)
- 1:   Type 2 muscle fiber predominance [HP:0010602](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
RNA-binding domain, RBD0.02554Inherited
Tropomyosin0.04078Inherited
vWA-like0.04639Inherited
Nucleotide-diphospho-sugar transferases0.05723Inherited
Kelch motif0.08295Inherited
POZ domain0.1889Inherited


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Canonical RBD0.005591Inherited
Integrin A (or I) domain0.008327Inherited
Tropomyosin0.02851Inherited
Kelch motif0.06285Inherited
Laminin-type module0.06285Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
RNA-binding domain, RBD0.01771Inherited
Tropomyosin0.02939Inherited
vWA-like0.03391Inherited
Nucleotide-diphospho-sugar transferases0.04278Inherited
Kelch motif0.06411Inherited
POZ domain0.157Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.000219Direct
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.0003177Direct


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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