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:
Abnormal macrophage morphology (HP:0004311)

Parent Node:
Abnormality of lysosomal metabolism (HP:0004356)

Parent Node:
Granulomatosis (HP:0002955)

..Starting node
..Lipogranulomatosis (HP:0040139)

Term ID:

40139

Name:

Lipogranulomatosis

Synonym:

Definition:

Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.

Comments:

Reference:

HP:0040139

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral granulomatosis (HP:0100313)

Hepatic granulomatosis (HP:0011955)

Non-caseating epithelioid cell granulomatosis (HP:0012220)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040139	HP:0040139	Lipogranulomatosis	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78

Genes (1) :ASAH1

Diseases (1) :OMIM:228000

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.