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 toe proximal phalanx (HP:0010184)

Grandparent Node:
Curved toe phalanx (HP:0010176)

Parent Node:
Abnormal morphology of the proximal phalanx of the 5th toe (HP:0010394)

Parent Node:
Curved 5th toe phalanx (HP:0010386)

Parent Node:
Curved proximal toe phalanx (HP:0010206)

..Starting node
..Curved proximal phalanx of the 5th toe (HP:0100448)

Term ID:

100448

Name:

Curved proximal phalanx of the 5th toe

Synonym:

Curved innermost little toe bone; Curved innermost pinkie toe bone; Curved innermost pinky toe bone

Definition:

A deviation from the normal straight form of the proximal phalanx of the fifth toe.

Comments:

Reference:

HP:0100448

Genes and Diseases:

Child Nodes:

Sister Nodes:

Curved proximal phalanx of the 2nd toe (HP:0010398)

Curved proximal phalanx of the 3rd toe (HP:0100446)

Curved proximal phalanx of the 4th toe (HP:0100447)

Curved proximal phalanx of the hallux (HP:0010088)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100448	HP:0100448	Curved proximal phalanx of the 5th 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.