Human Phenotype Ontology 
Grandparent Node:
Abnormality of the musculature (HP:0003011)help
Parent Node:
Abnormal levator palpebrae superioris morphology (HP:3000072)help
Parent Node:
Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
Levator palpebrae superioris atrophy (HP:0012241)help
Term ID: 12241
Name: Levator palpebrae superioris atrophy
Definition: Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.
Reference: HP:0012241
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expandAbnormal muscle fiber morphology (HP:0004303) help
..expandAbnormality of muscle size (HP:0030236) help
..expandCalcinosis (HP:0003761) help
..expandDecreased muscle mass (HP:0003199) help
..expandFatty replacement of skeletal muscle (HP:0012548) help
..expandFirm muscles (HP:0003725) help
..expandFlexion contracture (HP:0001371) help
..expandGeneralized muscular appearance from birth (HP:0003716) help
..expandIntramuscular hematoma (HP:0012233) help
..expandMuscular dystrophy (HP:0003560) help
..expandMuscular edema (HP:0100748) help
..expandMyopathy (HP:0003198) help
..expandMyositis (HP:0100614) help
..expandRhabdomyolysis (HP:0003201) help
..expandSkeletal muscle fibrosis (HP:0030951) 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:0012241HP:0012241Levator palpebrae superioris atrophy0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0012241HP:0012241Levator palpebrae superioris 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.