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 5th toe (HP:0010342)

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 5th toe (HP:0010343)

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

..Starting node
..Aplasia of the phalanges of the 5th toe (HP:0100364)

Term ID:

100364

Name:

Aplasia of the phalanges of the 5th toe

Synonym:

Absent little toe bones; Absent pinkie toe bones; Absent pinky toe bones

Definition:

Comments:

Reference:

HP:0100364

Genes and Diseases:

Child Nodes:

........

Aplasia of the distal phalanx of the 5th toe (HP:0100380)

........

Aplasia of the middle phalanx of the 5th toe (HP:0100383)

........

Aplasia of the proximal phalanx of the 5th toe (HP:0100386)

Sister Nodes:

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

Aplasia/Hypoplasia of the middle phalanx of the 5th toe (HP:0100374)

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

Short phalanx of the 5th toe (HP:0100368)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100364	HP:0100364	Aplasia of the phalanges of the 5th toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3	7
HP:0100364	HP:0100386	Aplasia of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100364	HP:0100383	Aplasia of the middle phalanx of the 5th toe	1	CL E G H
HP:0100364	HP:0100380	Aplasia of the distal phalanx of the 5th toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3	7

Genes (1) :KCNN3

Diseases (1) :OMIM:618658

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