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

..Starting node
..Infantile constant exotropia (HP:0032009)

Term ID:

32009

Name:

Infantile constant exotropia

Synonym:

Infantile (constant) exotropia

Definition:

Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.

Comments:

Reference:

HP:0032009

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032009	HP:0032009	Infantile constant exotropia	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10

Genes (1) :NONO

Diseases (1) :ORPHA:466791

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.