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:
Strabismus (HP:0000486)

Parent Node:
Incomitant strabismus (HP:0025068)

..Starting node
..Duane anomaly (HP:0009921)

Term ID:

9921

Name:

Duane anomaly

Synonym:

Globe retraction and deviation on adduction; Limited eye motility from Duane anomaly; Limited eye movement from Duane anomaly

Definition:

A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction

Comments:

Reference:

HP:0009921

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brown anomaly (HP:0031622)

Double depressor palsy (HP:0020042)

Double elevator palsy (HP:0020041)

Horizontal incomitant strabismus (HP:0020044)

Vertical incomitant strabismus (HP:0020043)

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:0009921	HP:0009921	Duane anomaly	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	810	18060	300382
HP:0009921	HP:0009921	Duane anomaly	0	CCNQ CL E G H	92002	300707	STAR syndrome	300707	C2678045	OMIM	1	265	28434	300708
HP:0009921	HP:0009921	Duane anomaly	0	CHN1 CL E G H	1123	604356	Duane syndrome type 2	604356	C0751083	OMIM	1	135	1943	118423
HP:0009921	HP:0009921	Duane anomaly	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0009921	HP:0009921	Duane anomaly	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0009921	HP:0009921	Duane anomaly	0	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009921	HP:0009921	Duane anomaly	0	CSPP1 CL E G H	79848	397715				ORPHA	0	1074	26193	611654
HP:0009921	HP:0009921	Duane anomaly	0	KIAA0586 CL E G H	9786	397715				ORPHA	0	1253	19960	610178
HP:0009921	HP:0009921	Duane anomaly	0	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	0	441	10524	602218
HP:0009921	HP:0009921	Duane anomaly	0	SALL4 CL E G H	57167	607323	Duane-radial ray syndrome	607323	C1623209	OMIM	0	301	15924	607343

Genes (10) :ARX CCNQ CHN1 CREBBP CSPP1 EP300 KIAA0586 PIEZO2 SALL1 SALL4

Diseases (8) :300215 300707 604356 180849 397715 108145 107480 607323

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

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