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:
Low APGAR score (HP:0030917)

Parent Node:
Low 5-minute APGAR score (HP:0030919)

..Starting node
..5-minute APGAR score of 4 (HP:0030924)

Term ID:

30924

Name:

5-minute APGAR score of 4

Synonym:

Definition:

Comments:

Reference:

HP:0030924

Genes and Diseases:

Child Nodes:

Sister Nodes:

5-minute APGAR score of 0 (HP:0030920)

5-minute APGAR score of 1 (HP:0030921)

5-minute APGAR score of 2 (HP:0030922)

5-minute APGAR score of 3 (HP:0030923)

5-minute APGAR score of 5 (HP:0030925)

5-minute APGAR score of 6 (HP:0030926)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030924	HP:0030924	5-minute APGAR score of 4	0	CL E G H

Genes (0) :

Diseases (0) :

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