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:
Aplasia/Hypoplasia of toe (HP:0001991)

Parent Node:
Abnormality of the 2nd toe (HP:0010319)

Parent Node:
Absent toe (HP:0010760)

..Starting node
..Aplasia/Hypoplasia of the 2nd toe (HP:0010325)

Term ID:

10325

Name:

Aplasia/Hypoplasia of the 2nd toe

Synonym:

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

Definition:

Comments:

Reference:

HP:0010325

Genes and Diseases:

Child Nodes:

........

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

................... HP:0010436 Aplasia of the proximal phalanx of the 2nd toe
................... HP:0010437 Short proximal phalanx of the 2nd toe

........

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

................... HP:0010434 Aplasia of the middle phalanx of the 2nd toe
................... HP:0010435 Short middle phalanx of the 2nd toe

........

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

................... HP:0010432 Absent distal phalanx of the 2nd toe
................... HP:0010433 Short distal phalanx of the 2nd toe

........

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

................... HP:0010432 Absent distal phalanx of the 2nd toe
................... HP:0010434 Aplasia of the middle phalanx of the 2nd toe
................... HP:0010436 Aplasia of the proximal phalanx of the 2nd toe

........

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

................... HP:0010433 Short distal phalanx of the 2nd toe
................... HP:0010435 Short middle phalanx of the 2nd toe
................... HP:0010437 Short proximal phalanx of the 2nd toe

Sister Nodes:

Adactyly (HP:0009776)

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

Aplasia/Hypoplasia of the 4th toe (HP:0010337)

Aplasia/Hypoplasia of the 5th toe (HP:0010343)

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

Aplasia/Hypoplasia of the hallux (HP:0008362)

Foot oligodactyly (HP:0001849)

Partial absence of toe (HP:0011305)

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:0010325	HP:0010325	Aplasia/Hypoplasia of the 2nd toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3	7
HP:0010325	HP:0010325	Aplasia/Hypoplasia of the 2nd toe	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome	2
HP:0010325	HP:0010431	Short phalanx of the 2nd toe	1	CL E G H
HP:0010325	HP:0010404	Aplasia/Hypoplasia of the middle phalanx of the 2nd toe	1	CL E G H
HP:0010325	HP:0010395	Aplasia/hypoplasia of the proximal phalanx of the 2nd toe	1	CL E G H
HP:0010325	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3	7
HP:0010325	HP:0010430	Aplasia of the phalanges of the 2nd toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3	7
HP:0010325	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome	2
HP:0010325	HP:0010434	Aplasia of the middle phalanx of the 2nd toe	2	CL E G H
HP:0010325	HP:0010433	Short distal phalanx of the 2nd toe	2	CL E G H
HP:0010325	HP:0010437	Short proximal phalanx of the 2nd toe	2	CL E G H
HP:0010325	HP:0010436	Aplasia of the proximal phalanx of the 2nd toe	2	CL E G H
HP:0010325	HP:0010435	Short middle phalanx of the 2nd toe	2	CL E G H
HP:0010325	HP:0010432	Absent distal phalanx of the 2nd toe	2	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.

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