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:
Abnormally lax or hyperextensible skin (HP:0008067)

Parent Node:
Hyperextensible skin (HP:0000974)

..Starting node
..Focal hyperextensible skin (HP:0007458)

Term ID:

7458

Name:

Focal hyperextensible skin

Synonym:

Definition:

Comments:

Reference:

HP:0007458

Genes and Diseases:

Child Nodes:

........

Hyperextensible skin of face (HP:0007425)

........

Hyperextensible skin of chest (HP:0011930)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007458	HP:0007458	Focal hyperextensible skin	0	CL E G H
HP:0007458	HP:0011930	Hyperextensible skin of chest	1	CL E G H
HP:0007458	HP:0007425	Hyperextensible skin of face	1	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.