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 joint morphology (HP:0001367)

Grandparent Node:
Regional abnormality of skin (HP:0011356)

Parent Node:
Pterygium (HP:0001059)

..Starting node
..Popliteal pterygium (HP:0009756)

Term ID:

9756

Name:

Popliteal pterygium

Synonym:

Definition:

A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).

Comments:

Reference:

HP:0009756

Genes and Diseases:

Child Nodes:

Sister Nodes:

Antecubital pterygium (HP:0009760)

Axillary pterygium (HP:0001060)

Intercrural pterygium (HP:0009757)

Multiple pterygia (HP:0001040)

Neck pterygia (HP:0009759)

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:0009756	HP:0009756	Popliteal pterygium	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0009756	HP:0009756	Popliteal pterygium	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	68
HP:0009756	HP:0009756	Popliteal pterygium	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0009756	HP:0009756	Popliteal pterygium	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0009756	HP:0009756	Popliteal pterygium	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0009756	HP:0009756	Popliteal pterygium	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0009756	HP:0009756	Popliteal pterygium	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0009756	HP:0009756	Popliteal pterygium	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	166
HP:0009756	HP:0009756	Popliteal pterygium	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0009756	HP:0009756	Popliteal pterygium	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0009756	HP:0009756	Popliteal pterygium	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69

Genes (8) :BHLHA9 CHRNG CHUK GPC6 IRF6 MYH3 PITX1 RIPK4

Diseases (10) :ORPHA:3329 ORPHA:2990 OMIM:265000 OMIM:619339 OMIM:258315 ORPHA:1300 OMIM:119500 OMIM:119800 ORPHA:1234 OMIM:263650

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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