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 eyelash morphology (HP:0000499)

Parent Node:
Multiple rows of eyelashes (HP:0008496)

..Starting node
..Distichiasis (HP:0009743)

Term ID:

9743

Name:

Distichiasis

Synonym:

Distichiasis of eyelid eyelashes

Definition:

Double rows of eyelashes.

Comments:

Reference:

HP:0009743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Three rows of eyelashes (HP:0008009)

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:0009743	HP:0009743	Distichiasis	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent	1003
HP:0009743	HP:0009743	Distichiasis	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.	1003
HP:0009743	HP:0009743	Distichiasis	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0009743	HP:0009743	Distichiasis	0	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2	.
HP:0009743	HP:0009743	Distichiasis	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent	20
HP:0009743	HP:0009743	Distichiasis	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0009743	HP:0009743	Distichiasis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0009743	HP:0009743	Distichiasis	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0009743	HP:0009743	Distichiasis	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	57
HP:0009743	HP:0009743	Distichiasis	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	HP:0040284 - Very rare	57
HP:0009743	HP:0009743	Distichiasis	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0009743	HP:0009743	Distichiasis	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent	7
HP:0009743	HP:0009743	Distichiasis	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	45

Genes (8) :CDH1 CTNND1 FOXC2 HSPG2 PRR12 PUS1 TWIST2 YARS2

Diseases (11) :ORPHA:1997 OMIM:119580 OMIM:617681 ORPHA:33001 OMIM:153400 ORPHA:800 OMIM:619539 ORPHA:2598 OMIM:600462 OMIM:227260 ORPHA:1807

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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