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 subcutaneous fat tissue (HP:0001001)

Grandparent Node:
Multiple lipomas (HP:0001012)

Grandparent Node:
Neoplasm of the skin (HP:0008069)

Parent Node:
Subcutaneous lipoma (HP:0001031)

..Starting node
..Painful subcutaneous lipomas (HP:0007596)

Term ID:

7596

Name:

Painful subcutaneous lipomas

Synonym:

Painful noncancerous fat tissue tumor under the skin; Painful noncancerous fat tissue tumour under the skin

Definition:

The presence of multiple subcutaneous lipoma that cause pain.

Comments:

Reference:

HP:0007596

Genes and Diseases:

Child Nodes:

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:0007596	HP:0007596	Painful subcutaneous lipomas	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.