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:
Abnormality of the 5th toe (HP:0010322)

Grandparent Node:
Abnormality of the phalanges of the toes (HP:0010161)

Parent Node:
Abnormality of the middle phalanges of the toes (HP:0010183)

Parent Node:
Abnormality of the phalanges of the 5th toe (HP:0010342)

..Starting node
..Abnormality of the middle phalanx of the 5th toe (HP:0010393)

Term ID:

10393

Name:

Abnormality of the middle phalanx of the 5th toe

Synonym:

Abnormality of the middle bone of the little toe; Abnormality of the middle bone of the pinkie toe; Abnormality of the middle bone of the pinky toe

Definition:

Comments:

Reference:

HP:0010393

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the middle phalanx of the 5th toe (HP:0100374)

................... HP:0100383 Aplasia of the middle phalanx of the 5th toe
................... HP:0100394 Short middle phalanx of the 5th toe

........

Duplication of the middle phalanx of the 5th toe (HP:0100403)

................... HP:0100412 Complete duplication of the middle phalanx of the 5th toe
................... HP:0100421 Partial duplication of the middle phalanx of the 5th toe

........

Broad middle phalanx of the 5th toe (HP:0100427)

........

Curved middle phalanx of the 5th toe (HP:0100445)

Sister Nodes:

Abnormal morphology of the proximal phalanx of the 5th toe (HP:0010394)

Aplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383)

Broad phalanges of the 5th toe (HP:0010384)

Bullet-shaped 5th toe phalanx (HP:0010385)

Curved 5th toe phalanx (HP:0010386)

Duplication of the phalanges of the 5th toe (HP:0010391)

Osteolytic defects of the phalanges of the 5th toe (HP:0010387)

Patchy sclerosis of 5th toe phalanx (HP:0010388)

Symphalangism affecting the phalanges of the 5th toe (HP:0010389)

Triangular shaped phalanges of the 5th toe (HP:0010390)

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:0010393	HP:0010393	Abnormality of the middle phalanx of the 5th toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0010393	HP:0100427	Broad middle phalanx of the 5th toe	1	CL E G H
HP:0010393	HP:0100403	Duplication of the middle phalanx of the 5th toe	1	CL E G H
HP:0010393	HP:0100445	Curved middle phalanx of the 5th toe	1	CL E G H
HP:0010393	HP:0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0010393	HP:0100421	Partial duplication of the middle phalanx of the 5th toe	2	CL E G H
HP:0010393	HP:0100412	Complete duplication of the middle phalanx of the 5th toe	2	CL E G H
HP:0010393	HP:0100383	Aplasia of the middle phalanx of the 5th toe	2	CL E G H
HP:0010393	HP:0100394	Short middle phalanx of the 5th toe	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22

Genes (1) :NOG

Diseases (1) :OMIM:186500

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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