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 corneal epithelium morphology (HP:0011495)

Grandparent Node:
Inflammatory abnormality of the eye (HP:0100533)

Parent Node:
Keratitis (HP:0000491)

..Starting node
..Punctate keratitis (HP:0011859)

Term ID:

11859

Name:

Punctate keratitis

Synonym:

Definition:

A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.

Comments:

Reference:

HP:0011859

Genes and Diseases:

Child Nodes:

Sister Nodes:

Keratoconjunctivitis (HP:0001096)

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:0011859	HP:0011859	Punctate keratitis	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0011859	HP:0011859	Punctate keratitis	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0011859	HP:0011859	Punctate keratitis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011859	HP:0011859	Punctate keratitis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011859	HP:0011859	Punctate keratitis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011859	HP:0011859	Punctate keratitis	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0011859	HP:0011859	Punctate keratitis	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759

Genes (6) :EPCAM GJB2 GJB6 NLRP1 PERCC1 PLEC

Diseases (5) :ORPHA:92050 OMIM:602540 ORPHA:477 OMIM:617388 OMIM:226670

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