Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
..Starting node
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Abnormality of the musculature (HP:0003011)help
Term ID: 3011
Name: Abnormality of the musculature
Synonym: Muscular abnormality
Definition: Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Comments:
Reference: HP:0003011
Genes and Diseases:There are 628 terms for your input, too many to show detail here. Please try its child terms.
 
       Child Nodes:
........expandAbnormality of facial musculature (HP:0000301) help
................... HP:0000297 Facial hypotonia
................... HP:0000317 Facial myokymia
................... HP:0000338 Hypomimic face
................... HP:0002491 Spasticity of facial muscles
................... HP:0004660 Hypoplasia of facial musculature
................... HP:0012892 Facial muscle hypertrophy
................... HP:0030319 Weakness of facial musculature
................... HP:0045037 Abnormality of jaw muscles
................... HP:0430018 Abnormality of nasal musculature
................... HP:0430019 Abnormality of muscle of facial expression
................... HP:3000008 Abnormality of mylohyoid muscle
................... HP:3000013 Abnormality of platysma
........expandAbnormality of the diaphragm (HP:0000775) help
................... HP:0000776 Congenital diaphragmatic hernia
................... HP:0009109 Denervation of the diaphragm
................... HP:0009110 Diaphragmatic eventration
................... HP:0009113 Diaphragmatic weakness
................... HP:0010315 Aplasia/Hypoplasia of the diaphragm
................... HP:0040045 Abnormality of the hemidiaphragms
........expandAbnormality of the musculature of the pelvis (HP:0001469) help
................... HP:0001443 Abnormality of the gluteal musculature
................... HP:0001445 Abnormality of the hip-girdle musculature
................... HP:0001471 Aplasia/Hypoplasia of the musculature of the pelvis
........expandGastroparesis (HP:0002578) help
........expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
................... HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria
................... HP:0003688 Cytochrome C oxidase-negative muscle fibers
................... HP:0003737 Mitochondrial myopathy
................... HP:0009141 Depletion of mitochondrial DNA in muscle tissue
........expandAbnormality of the extraocular muscles (HP:0008049) help
................... HP:0001491 Congenital fibrosis of extraocular muscles
................... HP:0007647 Congenital extraocular muscle anomaly
................... HP:0007886 Absent extraocular muscles
................... HP:0012242 Superior rectus atrophy
................... HP:3000057 Abnormality of inferior oblique extraocular muscle
................... HP:3000058 Abnormality of inferior rectus extraocular muscle
................... HP:3000069 Abnormality of lateral rectus extra-ocular muscle
................... HP:3000072 Abnormality of levator palpebrae superioris
........expandAbnormal mitochondria in muscle tissue (HP:0008316) help
........expandIncreased intramuscular fat (HP:0008985) help
........expandAbnormality of the musculature of the limbs (HP:0009127) help
................... HP:0001437 Abnormality of the musculature of the lower limbs
................... HP:0001446 Abnormality of the musculature of the upper limbs
................... HP:0002509 Limb hypertonia
................... HP:0003325 Limb-girdle muscle weakness
................... HP:0003690 Limb muscle weakness
................... HP:0003797 Limb-girdle muscle atrophy
................... HP:0007066 Proximal limb muscle stiffness
................... HP:0007156 Asymmetric limb muscle stiffness
................... HP:0009028 Generalized weakness of limb muscles
................... HP:0009128 Aplasia/Hypoplasia involving the musculature of the extremities
........expandAbnormality of the musculature of the thorax (HP:0009131) help
................... HP:0009011 Hypoplasia of serratus anterior muscle
................... HP:0009026 Hypoplasia of latissimus dorsi muscle
................... HP:0011957 Abnormality of the pectoral muscle
........expandNeoplasm of striated muscle (HP:0009728) help
................... HP:0002859 Rhabdomyosarcoma
................... HP:0009730 Rhabdomyoma
........expandAbnormality of the abdominal musculature (HP:0010991) help
................... HP:0001540 Diastasis recti
................... HP:0009023 Abdominal wall muscle weakness
................... HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature
........expandAbnormality of the musculature of the neck (HP:0011006) help
................... HP:0000467 Neck muscle weakness
................... HP:0000473 Torticollis
................... HP:0005988 Congenital muscular torticollis
................... HP:0012893 Neck muscle hypertrophy
................... HP:3000013 Abnormality of platysma
................... HP:3000046 Abnormality of geniohyoid muscle
........expandAbnormality of muscle physiology (HP:0011804) help
................... HP:0001281 Tetany
................... HP:0001324 Muscle weakness
................... HP:0002486 Myotonia
................... HP:0003394 Muscle cramps
................... HP:0003457 EMG abnormality
................... HP:0003552 Muscle stiffness
................... HP:0003559 Muscle hyperirritability
................... HP:0003750 Increased muscle fatiguability
................... HP:0003808 Abnormal muscle tone
................... HP:0004302 Functional motor deficit
........expandAbnormality of muscle morphology (HP:0011805) help
................... HP:0001371 Flexion contracture
................... HP:0003198 Myopathy
................... HP:0003199 Decreased muscle mass
................... HP:0003201 Rhabdomyolysis
................... HP:0003560 Muscular dystrophy
................... HP:0003716 Generalized muscular appearance from birth
................... HP:0003725 Firm muscles
................... HP:0003761 Calcinosis
................... HP:0004303 Abnormality of muscle fibers
................... HP:0012233 Intramuscular hematoma
................... HP:0012241 Levator palpebrae superioris atrophy
................... HP:0012548 Fatty replacement of skeletal muscle
................... HP:0030236 Abnormality of muscle size
................... HP:0030951 Skeletal muscle fibrosis
................... HP:0100614 Myositis
................... HP:0100748 Muscular edema
........expandAbnormality of occipitofrontalis muscle (HP:0040172) help
................... HP:3000004 Abnormality of frontalis muscle belly
........expandAbnormality of the tongue muscle (HP:0040173) help
................... HP:0040174 Abnormality of extrinsic muscle of tongue
................... HP:3000064 Abnormality of intrinsic muscle of tongue
........expandMuscle haemorrhage (HP:0040242) help
........expandAbnormality of axial muscles (HP:0040286) help
................... HP:0003327 Axial muscle weakness
................... HP:0006921 Axial muscle stiffness
................... HP:0040287 Axial muscle atrophy
........expandAbnormality of skeletal muscles (HP:0040290) help
................... HP:0003202 Skeletal muscle atrophy
................... HP:0003712 Skeletal muscle hypertrophy
................... HP:0030951 Skeletal muscle fibrosis
................... HP:0040291 Skeletal muscle steatosis
........expandCalcification of muscles (HP:0100249) help
........expandAbnormality of the chest musculature (HP:0410167) help
........expandAbnormality of the back musculature (HP:0410168) help
........expandAbnormality of the shoulder musculature (HP:0410169) help
........expandAbnormality of musculature of soft palate (HP:0430014) help
................... HP:0430016 Abnormality of tensor veli palatini muscle
................... HP:0430017 Abnormality of uvular muscle
................... HP:3000011 Abnormality of palatoglossus muscle
................... HP:3000012 Abnormality of palatopharyngeus muscle
................... HP:3000073 Abnormality of levator veli palatini muscle
........expandAbnormality of musculature of pharynx (HP:0430015) help
................... HP:3000012 Abnormality of palatopharyngeus muscle
........expandAbnormality of hyoglossus muscle (HP:3000051) help
........expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help


Genes (0) :

Diseases (0) :
 

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