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)

..Starting node
..Abnormality of the distal phalanx of the 5th toe (HP:0010392)

Term ID:

10392

Name:

Abnormality of the distal phalanx of the 5th toe

Synonym:

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

Definition:

Comments:

Reference:

HP:0010392

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the distal phalanx of the 5th toe (HP:0100371)

................... HP:0100380 Aplasia of the distal phalanx of the 5th toe
................... HP:0100391 Short distal phalanx of the 5th toe

........

Duplication of the distal phalanx of the 5th toe (HP:0100400)

................... HP:0100409 Complete duplication of the distal phalanx of the 5th toe
................... HP:0100418 Partial duplication of the distal phalanx of the 5th toe

........

Broad distal phalanx of the 5th toe (HP:0100433)

........

Curved distal phalanx of the 5th toe (HP:0100451)

Sister Nodes:

Abnormality of the distal phalanx of the 2nd toe (HP:0010356)

Abnormality of the distal phalanx of the 3rd toe (HP:0010368)

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

Abnormality of the distal phalanx of the hallux (HP:0010053)

Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)

Broad distal phalanx of the toes (HP:0010186)

Bullet-shaped distal toe phalanx (HP:0010187)

Curved distal toe phalanx (HP:0010188)

Duplication of distal phalanx of toe (HP:0010193)

Osteolytic defects of the distal phalanges of the toes (HP:0010189)

Sclerosis of distal toe phalanx (HP:0100948)

Symphalangism affecting the distal phalanges of the toes (HP:0010191)

Triangular shaped distal phalanges of the toes (HP:0010192)

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:0010392	HP:0010392	Abnormality of the distal phalanx of the 5th toe	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010392	HP:0010392	Abnormality of the distal phalanx of the 5th toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010392	HP:0100400	Duplication of the distal phalanx of the 5th toe	1	CL E G H
HP:0010392	HP:0100451	Curved distal phalanx of the 5th toe	1	CL E G H
HP:0010392	HP:0100433	Broad distal phalanx of the 5th toe	1	CL E G H
HP:0010392	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010392	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010392	HP:0100418	Partial duplication of the distal phalanx of the 5th toe	2	CL E G H
HP:0010392	HP:0100409	Complete duplication of the distal phalanx of the 5th toe	2	CL E G H
HP:0010392	HP:0100391	Short distal phalanx of the 5th toe	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010392	HP:0100380	Aplasia of the distal phalanx of the 5th toe	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7

Genes (2) :ARID1B KCNN3

Diseases (2) :OMIM:135900 OMIM:618658

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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