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

..Starting node
..Abnormal sebaceous gland morphology (HP:0032226)

Term ID:

32226

Name:

Abnormal sebaceous gland morphology

Synonym:

Definition:

Any structural anomaly of the sebaceous glands.

Comments:

Reference:

HP:0032226

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032226	HP:0032226	Abnormal sebaceous gland morphology	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome	332
HP:0032226	HP:0410400	Absent sebaceous glands	1	CL E G H
HP:0032226	HP:0032227	Sebaceous hyperplasia	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome	332

Genes (1) :FLCN

Diseases (1) :OMIM:135150

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