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

Parent Node:
Elevated alpha-fetoprotein (HP:0006254)

..Starting node
..Elevated maternal serum alpha-fetoprotein (HP:0005984)

Term ID:

5984

Name:

Elevated maternal serum alpha-fetoprotein

Synonym:

Definition:

An elevation of alpha-feto protein in the maternal serum.

Comments:

Reference:

HP:0005984

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated amniotic fluid alpha-fetoprotein (HP:0004639)

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:0005984	HP:0005984	Elevated maternal serum alpha-fetoprotein	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0005984	HP:0005984	Elevated maternal serum alpha-fetoprotein	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0005984	HP:0005984	Elevated maternal serum alpha-fetoprotein	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759

Genes (3) :ITGB4 OCRL PLEC

Diseases (2) :OMIM:226730 OMIM:309000

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