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 toes (HP:0100498)

Parent Node:
Deviation of the 4th toe (HP:0010338)

Parent Node:
Toe clinodactyly (HP:0001863)

..Starting node
..Clinodactyly of the 4th toe (HP:0011918)

Term ID:

11918

Name:

Clinodactyly of the 4th toe

Synonym:

4th toe clinodactyly; Curvature of 4th toe

Definition:

Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).

Comments:

Reference:

HP:0011918

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of hallux (HP:0040018)

Clinodactyly of the 2nd toe (HP:0005824)

Clinodactyly of the 3rd toe (HP:0008115)

Clinodactyly of the 5th toe (HP:0001864)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011918	HP:0011918	Clinodactyly of the 4th toe	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh	39
HP:0011918	HP:0011918	Clinodactyly of the 4th toe	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011918	HP:0011918	Clinodactyly of the 4th toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0011918	HP:0011918	Clinodactyly of the 4th toe	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	135

Genes (4) :COG8 HEPHL1 NOG RAB3GAP2

Diseases (4) :OMIM:611182 OMIM:261990 OMIM:186500 OMIM:614225

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