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
..3-4 finger syndactyly (HP:0006097)

Term ID:

6097

Name:

3-4 finger syndactyly

Synonym:

Partial or complete syndactyly 3rd-4th fingers; Webbed 3rd-4th finger; Webbed 3rd-4th fingers

Definition:

Syndactyly with fusion of fingers three and four.

Comments:

Reference:

HP:0006097

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)

2-3 finger syndactyly (HP:0001233)

2-4 finger syndactyly (HP:0010709)

2-5 finger syndactyly (HP:0010692)

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:0006097	HP:0006097	3-4 finger syndactyly	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0006097	HP:0006097	3-4 finger syndactyly	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0006097	HP:0006097	3-4 finger syndactyly	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0006097	HP:0006097	3-4 finger syndactyly	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0006097	HP:0006097	3-4 finger syndactyly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0006097	HP:0006097	3-4 finger syndactyly	0	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV	.	270
HP:0006097	HP:0006097	3-4 finger syndactyly	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040282 - Frequent	25
HP:0006097	HP:0006097	3-4 finger syndactyly	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0006097	HP:0006097	3-4 finger syndactyly	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222
HP:0006097	HP:0006097	3-4 finger syndactyly	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0006097	HP:0006097	3-4 finger syndactyly	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0006097	HP:0006097	3-4 finger syndactyly	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0006097	HP:0006097	3-4 finger syndactyly	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI

Genes (11) :BHLHA9 CDH3 CPLANE1 DSP GLI3 HOXD13 JUP MAB21L2 PORCN SALL1 TMEM53

Diseases (12) :OMIM:609432 OMIM:225280 OMIM:614615 ORPHA:158687 OMIM:175700 OMIM:174700 ORPHA:93406 OMIM:186000 OMIM:615877 OMIM:305600 OMIM:107480 OMIM:619727

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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