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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Flushing (HP:0031284)

..Starting node
..Facial flushing after alcohol intake (HP:0001033)

Term ID:

1033

Name:

Facial flushing after alcohol intake

Synonym:

Facial flushing after alcohol intake

Definition:

Comments:

Reference:

HP:0001033

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:0001033	HP:0001033	Facial flushing after alcohol intake	0	ALDH2 CL E G H	217	404	OMIM:610251	Alcohol sensitivity, acute	.	1

Genes (1) :ALDH2

Diseases (1) :OMIM:610251

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