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:
Esodeviation (HP:0020045)

Parent Node:
Esotropia (HP:0000565)

..Starting node
..Alternating esotropia (HP:0001137)

Term ID:

1137

Name:

Alternating esotropia

Synonym:

Alternating cross eyes

Definition:

Esotropia in which either eye may be used for fixation.

Comments:

Reference:

HP:0001137

Genes and Diseases:

Child Nodes:

Sister Nodes:

Accommodative esotropia (HP:0020046)

Consecutive esotropia (HP:0031767)

Non-accomodative esotropia (HP:0031760)

Secondary esotropia (HP:0031723)

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:0001137	HP:0001137	Alternating esotropia	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0001137	HP:0001137	Alternating esotropia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001137	HP:0001137	Alternating esotropia	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0001137	HP:0001137	Alternating esotropia	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0001137	HP:0001137	Alternating esotropia	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0001137	HP:0001137	Alternating esotropia	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040282 - Frequent	18
HP:0001137	HP:0001137	Alternating esotropia	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0001137	HP:0001137	Alternating esotropia	0	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040282 - Frequent	44
HP:0001137	HP:0001137	Alternating esotropia	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001137	HP:0001137	Alternating esotropia	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	HP:0040283 - Occasional	13

Genes (9) :APC CDC42BPB CLCN6 COG8 DPP6 LMBRD2 LMNB1 PPP2R5D SLC38A8

Diseases (9) :ORPHA:99818 OMIM:619841 OMIM:619173 ORPHA:95428 OMIM:611182 ORPHA:2514 OMIM:619694 ORPHA:457279 OMIM:609218

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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