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:
Clinical course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Antenatal onset (HP:0030674)

Term ID:

30674

Name:

Antenatal onset

Synonym:

Definition:

Onset prior to birth.

Comments:

Reference:

HP:0030674

Genes and Diseases:

Child Nodes:

........

Embryonal onset (HP:0011460)

........

Fetal onset (HP:0011461)

Sister Nodes:

Adult onset (HP:0003581)

Childhood onset (HP:0011463)

Congenital onset (HP:0003577)

Infantile onset (HP:0003593)

Juvenile onset (HP:0003621)

Neonatal onset (HP:0003623)

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:0030674	HP:0030674	Antenatal onset	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0030674	HP:0011461	Fetal onset	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0030674	HP:0011460	Embryonal onset	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (1) :MRPS22

Diseases (1) :611719

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