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 3rd toe (HP:0010330)

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

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

Parent Node:
Aplasia/Hypoplasia of the 3rd toe (HP:0010331)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 3rd toe (HP:0010359)

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

Term ID:

100362

Name:

Aplasia of the phalanges of the 3rd toe

Synonym:

Absent digital bone of the 3rd toe

Definition:

Comments:

Reference:

HP:0100362

Genes and Diseases:

Child Nodes:

........

Absent distal phalanx of the 3rd toe (HP:0100378)

........

Absent middle phalanx of the 3rd toe (HP:0100381)

........

Absent proximal phalanx of the 3rd toe (HP:0100384)

Sister Nodes:

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

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

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

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

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:0100362	HP:0100362	Aplasia of the phalanges of the 3rd toe	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0100362	HP:0100362	Aplasia of the phalanges of the 3rd toe	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	645
HP:0100362	HP:0100384	Absent proximal phalanx of the 3rd toe	1	CL E G H
HP:0100362	HP:0100378	Absent distal phalanx of the 3rd toe	1	CL E G H
HP:0100362	HP:0100381	Absent middle phalanx of the 3rd toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4

Genes (2) :EOGT LMNA

Diseases (2) :OMIM:615297 ORPHA:2229

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.