Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 ocular adnexa morphology (HP:0030669)

Parent Node:
Abnormal eyelid morphology (HP:0000492)

..Starting node
..Epiblepharon (HP:0011225)

Term ID:

11225

Name:

Epiblepharon

Synonym:

Definition:

Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.

Comments:

Reference:

HP:0011225

Genes and Diseases:

Child Nodes:

........

Epiblepharon of upper lid (HP:0040150)

........

Epiblepharon of lower lid (HP:0040151)

Sister Nodes:

Abnormal eyelash morphology (HP:0000499)

Abnormal levator palpebrae superioris morphology (HP:3000072)

Abnormality of the palpebral fissures (HP:0008050)

Accessory eyelid (HP:0430008)

Ankyloblepharon (HP:0009755)

Aplasia/Hypoplasia of the eyelid (HP:0011226)

Blepharitis (HP:0000498)

Blepharospasm (HP:0000643)

Dermatochalasis (HP:0010750)

Ectropion (HP:0000656)

Entropion (HP:0000621)

Epicanthus (HP:0000286)

Erythema of the eyelids (HP:0040323)

Euryblepharon (HP:0012905)

Eyelid apraxia (HP:0000658)

Eyelid retraction (HP:0500043)

Heliotrope rash of eyelid (HP:0030845)

Hooded eyelid (HP:0030820)

Hyperpigmentation of eyelids (HP:0007406)

Lagophthalmos (HP:0030001)

Lipomas of eyelids (HP:0040164)

Microblepharia (HP:0430010)

Nodular changes affecting the eyelids (HP:0010732)

Palpebral edema (HP:0100540)

Palpebral thickening (HP:0030939)

Symblepharon (HP:0430007)

Telecanthus (HP:0000506)

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:0011225	HP:0011225	Epiblepharon	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0011225	HP:0011225	Epiblepharon	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0011225	HP:0011225	Epiblepharon	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0011225	HP:0011225	Epiblepharon	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0011225	HP:0040151	Epiblepharon of lower lid	1	CL E G H
HP:0011225	HP:0040150	Epiblepharon of upper lid	1	CL E G H

Genes (4) :KAT5 NCAPG2 TWIST2 YY1

Diseases (4) :OMIM:619103 OMIM:618460 OMIM:209885 OMIM:617557

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen