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 phalanges of the 5th toe (HP:0010342)

Parent Node:
Abnormality of toe proximal phalanx (HP:0010184)

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

Term ID:

10394

Name:

Abnormal morphology of the proximal phalanx of the 5th toe

Synonym:

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

Definition:

Comments:

Reference:

HP:0010394

Genes and Diseases:

Child Nodes:

........

Aplasia/hypoplasia of the proximal phalanx of the 5th toe (HP:0100377)

................... HP:0100386 Aplasia of the proximal phalanx of the 5th toe
................... HP:0100397 Short proximal phalanx of the 5th toe

........

Duplication of the proximal phalanx of the 5th toe (HP:0100406)

................... HP:0100415 Complete duplication of the proximal phalanx of the 5th toe
................... HP:0100424 Partial duplication of the proximal phalanx of the 5th toe

........

Broad proximal phalanx of the 5th toe (HP:0100430)

........

Curved proximal phalanx of the 5th toe (HP:0100448)

Sister Nodes:

Abnormal morphology of the proximal phalanx of the 2nd toe (HP:0010358)

Abnormal morphology of the proximal phalanx of the 3rd toe (HP:0010370)

Abnormal morphology of the proximal phalanx of the 4th toe (HP:0010382)

Aplasia/hypoplasia of proximal toe phalanx (HP:0010203)

Broad proximal phalanx of toe (HP:0010204)

Bullet-shaped proximal toe phalanx (HP:0010205)

Curved proximal toe phalanx (HP:0010206)

Duplication of proximal phalanx of toe (HP:0010211)

Osteolytic defect of the proximal toe phalanx (HP:0010207)

Sclerosis of proximal toe phalanx (HP:0100946)

Short proximal phalanx of toe (HP:0011928)

Symphalangism affecting the proximal phalanges of the toes (HP:0010209)

Triangular shaped proximal phalanges of the toes (HP:0010210)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010394	HP:0010394	Abnormal morphology of the proximal phalanx of the 5th toe	0	CL E G H
HP:0010394	HP:0100448	Curved proximal phalanx of the 5th toe	1	CL E G H
HP:0010394	HP:0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	1	CL E G H
HP:0010394	HP:0100430	Broad proximal phalanx of the 5th toe	1	CL E G H
HP:0010394	HP:0100406	Duplication of the proximal phalanx of the 5th toe	1	CL E G H
HP:0010394	HP:0100386	Aplasia of the proximal phalanx of the 5th toe	2	CL E G H
HP:0010394	HP:0100424	Partial duplication of the proximal phalanx of the 5th toe	2	CL E G H
HP:0010394	HP:0100415	Complete duplication of the proximal phalanx of the 5th toe	2	CL E G H
HP:0010394	HP:0100397	Short proximal phalanx of the 5th toe	2	CL E G H

Genes (0) :

Diseases (0) :

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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