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:
Abnormal morphology of phalanx of the 2nd toe (HP:0010324)

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

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

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

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

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

..Starting node
..Aplasia/Hypoplasia of the distal phalanx of the 2nd toe (HP:0010413)

Term ID:

10413

Name:

Aplasia/Hypoplasia of the distal phalanx of the 2nd toe

Synonym:

Absent/small outermost 2nd toe bone; Absent/underdeveloped outermost 2nd toe bone

Definition:

Comments:

Reference:

HP:0010413

Genes and Diseases:

Child Nodes:

........

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

........

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

Sister Nodes:

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

Aplasia/Hypoplasia of the middle phalanx of the 2nd toe (HP:0010404)

Aplasia/hypoplasia of the proximal phalanx of the 2nd toe (HP:0010395)

Short phalanx of the 2nd toe (HP:0010431)

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:0010413	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3	7
HP:0010413	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome	2
HP:0010413	HP:0010433	Short distal phalanx of the 2nd toe	1	CL E G H
HP:0010413	HP:0010432	Absent distal phalanx of the 2nd toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3	7

Genes (2) :KCNN3 MAP3K20

Diseases (2) :OMIM:618658 ORPHA:488232

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