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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Abnormal cutaneous elastic fiber morphology (HP:0025082)

..Starting node
..Thickened elastic fibers in the dermis (HP:0025166)

Term ID:

25166

Name:

Thickened elastic fibers in the dermis

Synonym:

Thickened elastic fibres in the dermis

Definition:

An increase of the diameter of elastic fibers in the dermis.

Comments:

Reference:

HP:0025166

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clumping of elastic fibers in the dermis (HP:0025165)

Fragmented elastic fibers in the dermis (HP:0025167)

Increased number of elastic fibers in the dermis (HP:0025164)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025166	HP:0025166	Thickened elastic fibers in the dermis	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.