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 joint morphology (HP:0001367)

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

Parent Node:
Pterygium (HP:0001059)

..Starting node
..Intercrural pterygium (HP:0009757)

Term ID:

9757

Name:

Intercrural pterygium

Synonym:

Definition:

A pterygium (or pterygia) in the intercrural (groin) region.

Comments:

Reference:

HP:0009757

Genes and Diseases:

Child Nodes:

Sister Nodes:

Antecubital pterygium (HP:0009760)

Axillary pterygium (HP:0001060)

Multiple pterygia (HP:0001040)

Neck pterygia (HP:0009759)

Popliteal pterygium (HP:0009756)

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:0009757	HP:0009757	Intercrural pterygium	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0009757	HP:0009757	Intercrural pterygium	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99

Genes (2) :CHRNG IRF6

Diseases (2) :OMIM:265000 OMIM:119500

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