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 5th finger morphology (HP:0004207)

Grandparent Node:
Hand polydactyly (HP:0001161)

Grandparent Node:
Postaxial polydactyly (HP:0100259)

Parent Node:
Postaxial hand polydactyly (HP:0001162)

..Starting node
..Bilateral postaxial polydactyly (HP:0006136)

Term ID:

6136

Name:

Bilateral postaxial polydactyly

Synonym:

Definition:

Comments:

Reference:

HP:0006136

Genes and Diseases:

Child Nodes:

Sister Nodes:

Postaxial polydactyly type A (HP:0005696)

Rudimentary postaxial polydactyly of hands (HP:0005676)

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:0006136	HP:0006136	Bilateral postaxial polydactyly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0006136	HP:0006136	Bilateral postaxial polydactyly	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13

Genes (2) :GLI3 MEGF8

Diseases (2) :ORPHA:672 OMIM:614976

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