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 4th toe (HP:0010321)

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:
Abnormality of the phalanges of the 4th toe (HP:0010336)

..Starting node
..Abnormality of the distal phalanx of the 4th toe (HP:0010380)

Term ID:

10380

Name:

Abnormality of the distal phalanx of the 4th toe

Synonym:

Abnormality of the outermost 4th toe bone

Definition:

Comments:

Reference:

HP:0010380

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the distal phalanx of the 4th toe (HP:0100370)

................... HP:0100379 Aplasia of the distal phalanx of the 4th toe
................... HP:0100390 Short distal phalanx of the 4th toe

........

Duplication of the distal phalanx of the 4th toe (HP:0100399)

................... HP:0100408 Complete duplication of the distal phalanx of the 4th toe
................... HP:0100417 Partial duplication of the distal phalanx of the 4th toe

........

Broad distal phalanx of the 4th toe (HP:0100432)

........

Curved distal phalanx of the 4th toe (HP:0100450)

Sister Nodes:

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

Aplasia/Hypoplasia of the phalanges of the 4th toe (HP:0010371)

Broad phalanges of the 4th toe (HP:0010372)

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

Curved 4th toe phalanx (HP:0010374)

Duplication of phalanx of the 4th toe (HP:0010379)

Osteolytic defects of the phalanges of the 4th toe (HP:0010375)

Patchy sclerosis of 4th toe phalanx (HP:0010376)

Symphalangism affecting the phalanges of the 4th toe (HP:0010377)

Triangular shaped phalanges of the 4th toe (HP:0010378)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010380	HP:0010380	Abnormality of the distal phalanx of the 4th toe	0	CL E G H
HP:0010380	HP:0100450	Curved distal phalanx of the 4th toe	1	CL E G H
HP:0010380	HP:0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe	1	CL E G H
HP:0010380	HP:0100432	Broad distal phalanx of the 4th toe	1	CL E G H
HP:0010380	HP:0100399	Duplication of the distal phalanx of the 4th toe	1	CL E G H
HP:0010380	HP:0100417	Partial duplication of the distal phalanx of the 4th toe	2	CL E G H
HP:0010380	HP:0100408	Complete duplication of the distal phalanx of the 4th toe	2	CL E G H
HP:0010380	HP:0100390	Short distal phalanx of the 4th toe	2	CL E G H
HP:0010380	HP:0100379	Aplasia of the distal phalanx of the 4th 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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