Human Phenotype Ontology

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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

Grandparent Node:
Abnormal eyelid morphology (HP:0000492)

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

Parent Node:
Blepharitis (HP:0000498)

..Starting node
..Posterior blepharitis (HP:0025610)

Term ID:

25610

Name:

Posterior blepharitis

Synonym:

Meibomian gland disease; Meibomian gland dysfunction

Definition:

A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.

Comments:

Reference:

HP:0025610

Genes and Diseases:

Child Nodes:

........

Seborrhoeic blepharitis (HP:0500046)

Sister Nodes:

Anterior blepharitis (HP:0025609)

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:0025610	HP:0025610	Posterior blepharitis	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0025610	HP:0025610	Posterior blepharitis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0025610	HP:0025610	Posterior blepharitis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0025610	HP:0025610	Posterior blepharitis	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0025610	HP:0025610	Posterior blepharitis	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0025610	HP:0025610	Posterior blepharitis	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0025610	HP:0025610	Posterior blepharitis	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0025610	HP:0500046	Seborrhoeic blepharitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0025610	HP:0500046	Seborrhoeic blepharitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0025610	HP:0500046	Seborrhoeic blepharitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41

Genes (7) :GATA1 GJB2 GJB6 MBTPS2 SREBF1 UROD UROS

Diseases (5) :ORPHA:79277 ORPHA:477 OMIM:300918 OMIM:619016 ORPHA:95159

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

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