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)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

Parent Node:
Abnormality of the phalanges of the 3rd toe (HP:0010330)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)

..Starting node
..Aplasia/Hypoplasia of the phalanges of the 3rd toe (HP:0010359)

Term ID:

10359

Name:

Aplasia/Hypoplasia of the phalanges of the 3rd toe

Synonym:

Absent/small bones of 3rd toe; Absent/underdeveloped bones of 3rd toe

Definition:

Comments:

Reference:

HP:0010359

Genes and Diseases:

Child Nodes:

........

Aplasia of the phalanges of the 3rd toe (HP:0100362)

................... HP:0100378 Absent distal phalanx of the 3rd toe
................... HP:0100381 Absent middle phalanx of the 3rd toe
................... HP:0100384 Absent proximal phalanx of the 3rd toe

........

Short phalanx of the 3rd toe (HP:0100366)

................... HP:0100389 Short distal phalanx of the 3rd toe
................... HP:0100392 Short middle phalanx of the 3rd toe
................... HP:0100395 Short proximal phalanx of the 3rd toe

........

Aplasia/Hypoplasia of the distal phalanx of the 3rd toe (HP:0100369)

................... HP:0100378 Absent distal phalanx of the 3rd toe
................... HP:0100389 Short distal phalanx of the 3rd toe

........

Aplasia/Hypoplasia of the middle phalanx of the 3rd toe (HP:0100372)

................... HP:0100381 Absent middle phalanx of the 3rd toe
................... HP:0100392 Short middle phalanx of the 3rd toe

........

Aplasia/hypoplasia of the proximal phalanx of the 3rd toe (HP:0100375)

................... HP:0100384 Absent proximal phalanx of the 3rd toe
................... HP:0100395 Short proximal phalanx of the 3rd toe

Sister Nodes:

Aplasia of the phalanges of the toes (HP:0010745)

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

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

Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)

Aplasia/Hypoplasia of the phalanges of the 2nd toe (HP:0010347)

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

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

Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058)

Hypoplasia of the phalanges of the toes (HP:0010746)

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:0010359	HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010359	HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		645
HP:0010359	HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010359	HP:0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	1	CL E G H
HP:0010359	HP:0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe	1	CL E G H
HP:0010359	HP:0100366	Short phalanx of the 3rd toe	1	CL E G H
HP:0010359	HP:0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010359	HP:0100362	Aplasia of the phalanges of the 3rd toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010359	HP:0100362	Aplasia of the phalanges of the 3rd toe	1	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	645
HP:0010359	HP:0100389	Short distal phalanx of the 3rd toe	2	CL E G H
HP:0010359	HP:0100384	Absent proximal phalanx of the 3rd toe	2	CL E G H
HP:0010359	HP:0100378	Absent distal phalanx of the 3rd toe	2	CL E G H
HP:0010359	HP:0100395	Short proximal phalanx of the 3rd toe	2	CL E G H
HP:0010359	HP:0100392	Short middle phalanx of the 3rd toe	2	CL E G H
HP:0010359	HP:0100381	Absent middle phalanx of the 3rd toe	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4

Genes (3) :EOGT LMNA MAP3K20

Diseases (3) :OMIM:615297 ORPHA:2229 ORPHA:488232

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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