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 middle phalanges of the toes (HP:0010183)

Grandparent Node:
Curved toe phalanx (HP:0010176)

Parent Node:
Abnormality of the middle phalanx of the 3rd toe (HP:0010369)

Parent Node:
Curved 3rd toe phalanx (HP:0010362)

Parent Node:
Curved middle toe phalanx (HP:0010197)

..Starting node
..Curved middle phalanx of the 3rd toe (HP:0100443)

Term ID:

100443

Name:

Curved middle phalanx of the 3rd toe

Synonym:

Curved middle bone of 3rd toe

Definition:

A deviation from the normal straight form of the middle phalanx of the third toe.

Comments:

Reference:

HP:0100443

Genes and Diseases:

Child Nodes:

Sister Nodes:

Curved middle phalanx of the 2nd toe (HP:0010407)

Curved middle phalanx of the 4th toe (HP:0100444)

Curved middle phalanx of the 5th toe (HP:0100445)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100443	HP:0100443	Curved middle phalanx of the 3rd toe	0	CL E G H

Genes (0) :

Diseases (0) :

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