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

Human Phenotype Ontology

Grandparent Node:
Syndactyly (HP:0001159)

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Parent Node:
Finger syndactyly (HP:0006101)

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..Starting node
..1-4 finger syndactyly (HP:0010707)

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Term ID:

10707

Name:

1-4 finger syndactyly

Synonym:

Webbed 1st-4th finger

Definition:

Syndactyly with fusion of fingers one to four.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

Sister Nodes:

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1-2 finger syndactyly (HP:0010704)

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..

1-3 finger syndactyly (HP:0010706)

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..

1-5 finger syndactyly (HP:0010708)

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..

2-3 finger syndactyly (HP:0001233)

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..

2-4 finger syndactyly (HP:0010709)

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..

2-5 finger syndactyly (HP:0010692)

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..

3-4 finger syndactyly (HP:0006097)

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..

3-5 finger syndactyly (HP:0010710)

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4-5 finger syndactyly (HP:0010705)

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..

Cutaneous finger syndactyly (HP:0010554)

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Osseous finger syndactyly (HP:0010492)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010707	HP:0010707	1-4 finger syndactyly	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome				87

Genes (1) :CDH3

Diseases (1) :OMIM:225280

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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