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 collagen fibril morphology (HP:0031512)

..Starting node
..Cauliflower deformity of dermal collagen fibrils (HP:0031519)

Term ID:

31519

Name:

Cauliflower deformity of dermal collagen fibrils

Synonym:

Definition:

An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.

Comments:

Reference:

HP:0031519

Genes and Diseases:

Child Nodes:

Sister Nodes:

Luse bodies (HP:0031513)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031519	HP:0031519	Cauliflower deformity of dermal collagen fibrils	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.