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 proximal phalanx morphology of the hand (HP:0009834)

Grandparent Node:
Curved phalanges of the hand (HP:0009770)

Parent Node:
Abnormality of the proximal phalanx of the 2nd finger (HP:0009544)

Parent Node:
Curved phalanges of the 2nd finger (HP:0009549)

Parent Node:
Curved proximal phalanges of the hand (HP:0009854)

..Starting node
..Curved proximal phalanx of the 2nd finger (HP:0009583)

Term ID:

9583

Name:

Curved proximal phalanx of the 2nd finger

Synonym:

Curved innermost bone of index finger

Definition:

Curved appearance of the proximal phalanx of the 2nd finger.

Comments:

Reference:

HP:0009583

Genes and Diseases:

Child Nodes:

Sister Nodes:

Curved proximal phalanx of the 3rd finger (HP:0009452)

Curved proximal phalanx of the 4th finger (HP:0009288)

Curved proximal phalanx of the 5th finger (HP:0009229)

Curved proximal phalanx of the thumb (HP:0009632)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009583	HP:0009583	Curved proximal phalanx of the 2nd finger	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.