Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormal levator palpebrae superioris morphology (HP:3000072)

Parent Node:
Abnormal skeletal muscle morphology (HP:0011805)

..Starting node
..Levator palpebrae superioris atrophy (HP:0012241)

Term ID:

12241

Name:

Levator palpebrae superioris atrophy

Synonym:

Definition:

Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.

Comments:

Reference:

HP:0012241

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal muscle fiber morphology (HP:0004303)

Abnormality of muscle size (HP:0030236)

Calcinosis (HP:0003761)

Decreased muscle mass (HP:0003199)

Fatty replacement of skeletal muscle (HP:0012548)

Firm muscles (HP:0003725)

Flexion contracture (HP:0001371)

Generalized muscular appearance from birth (HP:0003716)

Intramuscular hematoma (HP:0012233)

Muscular dystrophy (HP:0003560)

Muscular edema (HP:0100748)

Myopathy (HP:0003198)

Myositis (HP:0100614)

Rhabdomyolysis (HP:0003201)

Skeletal muscle fibrosis (HP:0030951)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012241	HP:0012241	Levator palpebrae superioris atrophy	0	KIF21A CL E G H	55605	135700	Fibrosis of extraocular muscles, congenital, 1	135700	C1851102	OMIM	1	236	19349	608283
HP:0012241	HP:0012241	Levator palpebrae superioris atrophy	0	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (2) :KIF21A TUBB3

Diseases (2) :135700 600638

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.