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:
Abnormal ocular adnexa morphology (HP:0030669)

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

Parent Node:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Abnormality of the extraocular muscles (HP:0008049)

..Starting node
..Abnormal levator palpebrae superioris morphology (HP:3000072)

Term ID:

3000072

Name:

Abnormal levator palpebrae superioris morphology

Synonym:

Definition:

An abnormality of a levator palpebrae superioris.

Comments:

Reference:

HP:3000072

Genes and Diseases:

Child Nodes:

........

Levator palpebrae superioris atrophy (HP:0012241)

Sister Nodes:

Abnormality of inferior oblique extraocular muscle (HP:3000057)

Abnormality of inferior rectus extraocular muscle (HP:3000058)

Abnormality of lateral rectus extra-ocular muscle (HP:3000069)

Absent extraocular muscles (HP:0007886)

Congenital extraocular muscle anomaly (HP:0007647)

Congenital fibrosis of extraocular muscles (HP:0001491)

Superior rectus atrophy (HP:0012242)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:3000072	HP:3000072	Abnormal levator palpebrae superioris morphology	0	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1		93
HP:3000072	HP:3000072	Abnormal levator palpebrae superioris morphology	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:3000072	HP:0012241	Levator palpebrae superioris atrophy	1	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.	93
HP:3000072	HP:0012241	Levator palpebrae superioris atrophy	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis 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.