Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Absent keratohyalin granules (HP:0033807)

Term ID:

33807

Name:

Absent keratohyalin granules

Synonym:

Definition:

Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.

Comments:

Reference:

HP:0033807

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:0033807	HP:0033807	Absent keratohyalin granules	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS	63

Genes (1) :FLG

Diseases (1) :OMIM:146700

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