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
..Luse bodies (HP:0031513)

Term ID:

31513

Name:

Luse bodies

Synonym:

Definition:

Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.

Comments:

Reference:

HP:0031513

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cauliflower deformity of dermal collagen fibrils (HP:0031519)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031513	HP:0031513	Luse bodies	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.