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 phalanges of the toes (HP:0010161)

Parent Node:
Abnormality of the distal phalanges of the toes (HP:0010182)

Parent Node:
Bullet-shaped toe phalanx (HP:0010175)

..Starting node
..Bullet-shaped distal toe phalanx (HP:0010187)

Term ID:

10187

Name:

Bullet-shaped distal toe phalanx

Synonym:

Bullet-shaped distal phalanges of the toes; Bullet-shaped outermost bone of the toe

Definition:

An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.

Comments:

Reference:

HP:0010187

Genes and Diseases:

Child Nodes:

........

Bullet-shaped distal phalanx of the hallux (HP:0010078)

Sister Nodes:

Bullet-shaped 2nd toe phalanx (HP:0010349)

Bullet-shaped 3rd toe phalanx (HP:0010361)

Bullet-shaped 4th toe phalanx (HP:0010373)

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

Bullet-shaped hallux phalanx (HP:0010060)

Bullet-shaped middle toe phalanx (HP:0010196)

Bullet-shaped proximal toe phalanx (HP:0010205)

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:0010187	HP:0010187	Bullet-shaped distal toe phalanx	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0010187	HP:0010078	Bullet-shaped distal phalanx of the hallux	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1

Genes (1) :TBR1

Diseases (1) :ORPHA:1617

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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