Human Phenotype Ontology 
Grandparent Node:
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Abnormal ocular adnexa morphology (HP:0030669)help
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormality of the extraocular muscles (HP:0008049)help
..Starting node
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Superior rectus atrophy (HP:0012242)help
Term ID: 12242
Name: Superior rectus atrophy
Synonym: Rectus superior atrophy
Definition: Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.
Comments:
Reference: HP:0012242
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal levator palpebrae superioris morphology (HP:3000072) 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
..expandAbsent extraocular muscles (HP:0007886) help
..expandCongenital extraocular muscle anomaly (HP:0007647) help
..expandCongenital fibrosis of extraocular muscles (HP:0001491) 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:0012242HP:0012242Superior rectus atrophy0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0012242HP:0012242Superior rectus atrophy0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64


Genes (2) :KIF21A TUBB3

Diseases (2) :OMIM:135700 OMIM:600638
 

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