Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the extraocular muscles (HP:0008049)

..Starting node
..Congenital fibrosis of extraocular muscles (HP:0001491)

Term ID:

1491

Name:

Congenital fibrosis of extraocular muscles

Synonym:

CFEOM; Congenital fibrosis of the extraocular muscles; Congenital ophthalmoplegia

Definition:

Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.

Comments:

Reference:

HP:0001491

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal levator palpebrae superioris morphology (HP:3000072)

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)

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:0001491	HP:0001491	Congenital fibrosis of extraocular muscles	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0001491	HP:0001491	Congenital fibrosis of extraocular muscles	0	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.	93
HP:0001491	HP:0001491	Congenital fibrosis of extraocular muscles	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.	6
HP:0001491	HP:0001491	Congenital fibrosis of extraocular muscles	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	HP:0040283 - Occasional	39
HP:0001491	HP:0001491	Congenital fibrosis of extraocular muscles	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0001491	HP:0001491	Congenital fibrosis of extraocular muscles	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.	64
HP:0001491	HP:0001491	Congenital fibrosis of extraocular muscles	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (6) :COL25A1 KIF21A PHOX2A TUBB2B TUBB3 ZFHX4

Diseases (6) :ORPHA:91411 OMIM:135700 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.

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