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
..2-3 finger syndactyly (HP:0001233)

Term ID:

1233

Name:

2-3 finger syndactyly

Synonym:

Syndactyly 2nd-3rd fingers; Syndactyly, 2-3 finger; Webbed 2nd-3rd fingers

Definition:

Syndactyly with fusion of fingers two and three.

Comments:

Reference:

HP:0001233

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)

1-5 finger syndactyly (HP:0010708)

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:0001233	HP:0001233	2-3 finger syndactyly	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0001233	HP:0001233	2-3 finger syndactyly	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0001233	HP:0001233	2-3 finger syndactyly	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001233	HP:0001233	2-3 finger syndactyly	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0001233	HP:0001233	2-3 finger syndactyly	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0001233	HP:0001233	2-3 finger syndactyly	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0001233	HP:0001233	2-3 finger syndactyly	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001233	HP:0001233	2-3 finger syndactyly	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001233	HP:0001233	2-3 finger syndactyly	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222
HP:0001233	HP:0001233	2-3 finger syndactyly	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	124
HP:0001233	HP:0001233	2-3 finger syndactyly	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.	8
HP:0001233	HP:0001233	2-3 finger syndactyly	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0001233	HP:0001233	2-3 finger syndactyly	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	26
HP:0001233	HP:0001233	2-3 finger syndactyly	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0001233	HP:0001233	2-3 finger syndactyly	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.	60
HP:0001233	HP:0001233	2-3 finger syndactyly	0	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	HP:0040282 - Frequent	60

Genes (14) :CDH3 DSP FANCF FGF10 FGFR2 FGFR3 GPC3 GPC4 JUP LRP4 PITX1 SMO SOST WDPCP

Diseases (11) :OMIM:225280 ORPHA:158687 OMIM:603467 OMIM:149730 OMIM:312870 ORPHA:3152 OMIM:186550 OMIM:601707 OMIM:269500 OMIM:217085 ORPHA:1338

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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