Human Phenotype Ontology 
Grandparent Node:
expandPhenotypic abnormality (HP:0000118)help
Parent Node:
expandAbnormality of the musculature (HP:0003011)help
..Starting node
..expandAbnormal axial muscle morphology (HP:0040286)help
Term ID: 40286
Name: Abnormal axial muscle morphology
Synonym: Abnormality of axial muscles
Definition: A structural anomaly of the muscles of the trunk and head.
Comments:
Reference: HP:0040286
Genes and Diseases:
 
       Child Nodes:
........expandAxial muscle weakness (HP:0003327) help
........expandAxial muscle stiffness (HP:0006921) help
........expandAxial muscle atrophy (HP:0040287) help

 Sister Nodes: 
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandAbnormal morphology of musculature of pharynx (HP:0430015) help
..expandAbnormal morphology of the abdominal musculature (HP:0010991) help
..expandAbnormal morphology of the chest musculature (HP:0410167) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal morphology of the pelvis musculature (HP:0001469) help
..expandAbnormal morphology of the shoulder musculature (HP:0410169) help
..expandAbnormal muscle physiology (HP:0011804) help
..expandAbnormal skeletal muscle morphology (HP:0011805) help
..expandAbnormality of facial musculature (HP:0000301) help
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of the back musculature (HP:0410168) help
..expandAbnormality of the diaphragm (HP:0000775) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
..expandAbnormality of the musculature of the limbs (HP:0009127) help
..expandAbnormality of the musculature of the thorax (HP:0009131) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandCalcification of muscles (HP:0100249) help
..expandGastroparesis (HP:0002578) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
..expandMuscle hemorrhage (HP:0040242) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandobsolete Abnormality of skeletal muscles (HP:0040290) 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:0040286HP:0040286Abnormal axial muscle morphology0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0040286HP:0040286Abnormal axial muscle morphology0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0040286HP:0040286Abnormal axial muscle morphology0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0040286HP:0006921Axial muscle stiffness1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0040286HP:0006921Axial muscle stiffness1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040282 - Frequent140
HP:0040286HP:0040287Axial muscle atrophy1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759


Genes (2) :MAPT PLEC

Diseases (3) :ORPHA:240071 ORPHA:240085 ORPHA:254361
 

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