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:
Syndactyly (HP:0001159)

Parent Node:
Finger syndactyly (HP:0006101)

..Starting node
..1-5 finger syndactyly (HP:0010708)

Term ID:

10708

Name:

1-5 finger syndactyly

Synonym:

Webbed 1-5 fingers; Webbed 1st-5th fingers

Definition:

Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).

Comments:

Reference:

HP:0010708

Genes and Diseases:

Child Nodes:

Sister Nodes:

1-2 finger syndactyly (HP:0010704)

1-3 finger syndactyly (HP:0010706)

1-4 finger syndactyly (HP:0010707)

2-3 finger syndactyly (HP:0001233)

2-4 finger syndactyly (HP:0010709)

2-5 finger syndactyly (HP:0010692)

3-4 finger syndactyly (HP:0006097)

3-5 finger syndactyly (HP:0010710)

4-5 finger syndactyly (HP:0010705)

Cutaneous finger syndactyly (HP:0010554)

Osseous finger syndactyly (HP:0010492)

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:0010708	HP:0010708	1-5 finger syndactyly	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	106
HP:0010708	HP:0010708	1-5 finger syndactyly	0	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV		106
HP:0010708	HP:0010708	1-5 finger syndactyly	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	67

Genes (2) :LMBR1 SHH

Diseases (2) :ORPHA:93405 OMIM:186200

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