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:
Absent toe (HP:0010760)

..Starting node
..Partial absence of toe (HP:0011305)

Term ID:

11305

Name:

Partial absence of toe

Synonym:

Hypophalangy of toes; Partial absence of toe

Definition:

The absence of a phalangeal segment of a toe or hallux.

Comments:

Reference:

HP:0011305

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adactyly (HP:0009776)

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

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)

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:0011305	HP:0011305	Partial absence of toe	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent	138

Genes (1) :NOTCH2

Diseases (1) :ORPHA:955

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