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:
Cutis laxa (HP:0000973)

Parent Node:
Redundant skin (HP:0001582)

..Starting node
..Redundant skin in infancy (HP:0007595)

Term ID:

7595

Name:

Redundant skin in infancy

Synonym:

Excess skin in infancy

Definition:

Comments:

Reference:

HP:0007595

Genes and Diseases:

Child Nodes:

Sister Nodes:

Redundant neck skin (HP:0005989)

Redundant skin on fingers (HP:0007516)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007595	HP:0007595	Redundant skin in infancy	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.