Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormal ocular adnexa morphology (HP:0030669)help
Parent Node:
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Abnormality of the musculature (HP:0003011)help
..Starting node
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Abnormality of the extraocular muscles (HP:0008049)help
Term ID: 8049
Name: Abnormality of the extraocular muscles
Synonym:
Definition: An abnormality of an extraocular muscle.
Comments:
Reference: HP:0008049
Genes and Diseases:
 
       Child Nodes:
........expandCongenital fibrosis of extraocular muscles (HP:0001491) help
........expandCongenital extraocular muscle anomaly (HP:0007647) help
........expandAbsent extraocular muscles (HP:0007886) help
........expandSuperior rectus atrophy (HP:0012242) help
........expandAbnormality of inferior oblique extraocular muscle (HP:3000057) help
........expandAbnormality of inferior rectus extraocular muscle (HP:3000058) help
........expandAbnormality of lateral rectus extra-ocular muscle (HP:3000069) help
........expandAbnormality of levator palpebrae superioris (HP:3000072) help
................... HP:0012241 Levator palpebrae superioris atrophy

 Sister Nodes: 
..expandAbnormal axial muscle morphology (HP:0040286) help
..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 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:0008049HP:0008049Abnormality of the extraocular muscles0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0008049HP:0008049Abnormality of the extraocular muscles0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 193
HP:0008049HP:0008049Abnormality of the extraocular muscles0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0008049HP:0008049Abnormality of the extraocular muscles0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040283 - Occasional80
HP:0008049HP:0008049Abnormality of the extraocular muscles0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 26
HP:0008049HP:0008049Abnormality of the extraocular muscles0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0008049HP:0008049Abnormality of the extraocular muscles0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0008049HP:0008049Abnormality of the extraocular muscles0TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 739
HP:0008049HP:0008049Abnormality of the extraocular muscles0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0008049HP:0008049Abnormality of the extraocular muscles0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0008049HP:0008049Abnormality of the extraocular muscles0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0008049HP:0008049Abnormality of the extraocular muscles0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0008049HP:0007886Absent extraocular muscles1 CL E G H
HP:0008049HP:0007647Congenital extraocular muscle anomaly1 CL E G H
HP:0008049HP:3000069Abnormality of lateral rectus extra-ocular muscle1 CL E G H
HP:0008049HP:3000058Abnormality of inferior rectus extraocular muscle1 CL E G H
HP:0008049HP:3000057Abnormality of inferior oblique extraocular muscle1 CL E G H
HP:0008049HP:0001491Congenital fibrosis of extraocular muscles1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0008049HP:0012242Superior rectus atrophy1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0008049HP:0001491Congenital fibrosis of extraocular muscles1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0008049HP:3000072Abnormal levator palpebrae superioris morphology1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 193
HP:0008049HP:0001491Congenital fibrosis of extraocular muscles1PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 2.6
HP:0008049HP:0001491Congenital fibrosis of extraocular muscles1TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7HP:0040283 - Occasional39
HP:0008049HP:0001491Congenital fibrosis of extraocular muscles1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0008049HP:0012242Superior rectus atrophy1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0008049HP:0001491Congenital fibrosis of extraocular muscles1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0008049HP:3000072Abnormal levator palpebrae superioris morphology1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0008049HP:0001491Congenital fibrosis of extraocular muscles1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0008049HP:0012241Levator palpebrae superioris atrophy2KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0008049HP:0012241Levator palpebrae superioris atrophy2TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64


Genes (11) :COL25A1 KIF21A LIG3 MATR3 PHOX2A POLG RRM2B TUBB2B TUBB3 TYMP ZFHX4

Diseases (8) :ORPHA:91411 OMIM:135700 ORPHA:298 ORPHA:600 OMIM:602078 OMIM:610031 ORPHA:300570 OMIM:600638
 

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