Human Phenotype Ontology 
..Starting node
..expandAngulated muscle fibers (HP:0034045)help
Term ID: 34045
Name: Angulated muscle fibers
Synonym: Angular muscle fibers
Definition: Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.
Comments:
Reference: HP:0034045
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034045HP:0034045Angulated muscle fibers0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0034045HP:0034045Angulated muscle fibers0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0034045HP:0034045Angulated muscle fibers0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22


Genes (3) :ANXA11 LRIF1 SMN1

Diseases (3) :OMIM:619733 OMIM:619477 OMIM:271150
 

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