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:
Clinodactyly (HP:0030084)

Grandparent Node:
Deviation of finger (HP:0004097)

Parent Node:
Deviation of the 4th finger (HP:0009273)

Parent Node:
Finger clinodactyly (HP:0040019)

..Starting node
..Clinodactyly of the 4th finger (HP:0040025)

Term ID:

40025

Name:

Clinodactyly of the 4th finger

Synonym:

Curvature of ring finger

Definition:

Comments:

Reference:

HP:0040025

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of the 2nd finger (HP:0040022)

Clinodactyly of the 3rd finger (HP:0040024)

Clinodactyly of the 5th finger (HP:0004209)

Clinodactyly of the thumb (HP:0040023)

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:0040025	HP:0040025	Clinodactyly of the 4th finger	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0040025	HP:0040025	Clinodactyly of the 4th finger	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0040025	HP:0040025	Clinodactyly of the 4th finger	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0040025	HP:0040025	Clinodactyly of the 4th finger	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0040025	HP:0040025	Clinodactyly of the 4th finger	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0040025	HP:0040025	Clinodactyly of the 4th finger	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0040025	HP:0040025	Clinodactyly of the 4th finger	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37

Genes (7) :ABCC8 COL11A1 KCNJ11 KNSTRN NARS2 PIK3CD SNRPN

Diseases (4) :ORPHA:79134 OMIM:154780 ORPHA:221139 ORPHA:177907

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