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:
Polydactyly (HP:0010442)

Parent Node:
Foot polydactyly (HP:0001829)

Parent Node:
Mesoaxial polydactyly (HP:0100260)

..Starting node
..Mesoaxial foot polydactyly (HP:0010112)

Term ID:

10112

Name:

Mesoaxial foot polydactyly

Synonym:

Central polydactyly of feet

Definition:

The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.

Comments:

Reference:

HP:0010112

Genes and Diseases:

Child Nodes:

........

Polydactyly affecting the 2nd toe (HP:0010328)

........

Polydactyly affecting the 3rd toe (HP:0010334)

........

Polydactyly affecting the 4th toe (HP:0010340)

Sister Nodes:

Mesoaxial hand polydactyly (HP:0006159)

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:0010112	HP:0010112	Mesoaxial foot polydactyly	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010112	HP:0010112	Mesoaxial foot polydactyly	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010112	HP:0010112	Mesoaxial foot polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010112	HP:0010112	Mesoaxial foot polydactyly	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010112	HP:0010112	Mesoaxial foot polydactyly	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0010112	HP:0010328	Polydactyly affecting the 2nd toe	1	CL E G H
HP:0010112	HP:0010340	Polydactyly affecting the 4th toe	1	CL E G H
HP:0010112	HP:0010334	Polydactyly affecting the 3rd toe	1	CL E G H

Genes (5) :GJA5 GJA8 GLI3 MAP3K20 TFAP2B

Diseases (4) :OMIM:612474 OMIM:146510 ORPHA:488232 ORPHA:46627

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