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 eyelid morphology (HP:0000492)

Parent Node:
Ectropion (HP:0000656)

..Starting node
..Eversion of lateral third of lower eyelids (HP:0007655)

Term ID:

7655

Name:

Eversion of lateral third of lower eyelids

Synonym:

Definition:

Comments:

Reference:

HP:0007655

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cicatricial ectropion (HP:0025608)

Ectropion of lower eyelids (HP:0007651)

Paralytic ectropion (HP:0500069)

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:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0007655	HP:0007655	Eversion of lateral third of lower eyelids	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660

Genes (5) :CDC42 GRIA3 HNRNPK KDM6A KMT2D

Diseases (8) :ORPHA:487796 OMIM:616737 ORPHA:364028 ORPHA:352665 ORPHA:453504 ORPHA:2322 OMIM:147920 OMIM:300867

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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