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:
Hamartoma (HP:0010566)

Grandparent Node:
Hamartoma of the orbital region (HP:0030670)

Grandparent Node:
Neoplasm of the eye (HP:0100012)

Parent Node:
Abnormal conjunctiva morphology (HP:0000502)

Parent Node:
Hamartoma of the eye (HP:0010568)

..Starting node
..Conjunctival hamartoma (HP:0100780)

Term ID:

100780

Name:

Conjunctival hamartoma

Synonym:

Definition:

A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.

Comments:

Reference:

HP:0100780

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lisch nodules (HP:0009737)

Retinal hamartoma (HP:0009594)

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:0100780	HP:0100780	Conjunctival hamartoma	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0100780	HP:0100780	Conjunctival hamartoma	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0100780	HP:0100780	Conjunctival hamartoma	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0100780	HP:0100780	Conjunctival hamartoma	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0100780	HP:0100780	Conjunctival hamartoma	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0100780	HP:0100780	Conjunctival hamartoma	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0100780	HP:0100780	Conjunctival hamartoma	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0100780	HP:0100780	Conjunctival hamartoma	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0100780	HP:0100780	Conjunctival hamartoma	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0100780	HP:0100780	Conjunctival hamartoma	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0100780	HP:0100780	Conjunctival hamartoma	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1

Genes (11) :AKT1 KLLN KRT1 KRT10 PIK3CA PTEN SDHB SDHC SDHD SEC23B USF3

Diseases (2) :ORPHA:201 ORPHA:312

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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