Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Aplasia/Hypoplasia of the 2nd toe (HP:0010325)

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

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

Parent Node:
Aplasia of the distal phalanges of the toes (HP:0010645)

Parent Node:
Aplasia of the phalanges of the 2nd toe (HP:0010430)

Parent Node:
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe (HP:0010413)

..Starting node
..Absent distal phalanx of the 2nd toe (HP:0010432)

Term ID:

10432

Name:

Absent distal phalanx of the 2nd toe

Synonym:

Absent distal phalanx of the second toe; Absent outermost bone of the 2nd toe; Aplasia of the distal phalanx of the 2nd toe

Definition:

Absence of distal phalanx of the second toe as a result of developmental aplasia.

Comments:

Reference:

HP:0010432

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of the 2nd toe (HP:0010433)

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:0010432	HP:0010432	Absent distal phalanx of the 2nd toe	0	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.