Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal circulating protein concentration (HP:0010876)

Parent Node:
Abnormal levels of alpha-fetoprotein (HP:0045056)

..Starting node
..Decreased levels of alpha-fetoprotein (HP:0045057)

Term ID:

45057

Name:

Decreased levels of alpha-fetoprotein

Synonym:

Definition:

A decrease in the concentration of alpha-fetoprotein in the blood circulation.

Comments:

Reference:

HP:0045057

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated alpha-fetoprotein (HP:0006254)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045057	HP:0045057	Decreased levels of alpha-fetoprotein	0	AFP CL E G H	174	317	OMIM:615969	ALPHA-FETOPROTEIN DEFICIENCY; AFPD	4

Genes (1) :AFP

Diseases (1) :OMIM:615969

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