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:
Prematurely aged appearance (HP:0007495)

..Starting node
..Aged leonine appearance (HP:0008509)

Term ID:

8509

Name:

Aged leonine appearance

Synonym:

Definition:

Comments:

Reference:

HP:0008509

Genes and Diseases:

Child Nodes:

Sister Nodes:

Premature graying of hair (HP:0002216)

Premature skin wrinkling (HP:0100678)

Progeroid facial appearance (HP:0005328)

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:0008509	HP:0008509	Aged leonine appearance	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3	7

Genes (1) :TWIST2

Diseases (1) :OMIM:227260

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