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 distal phalanx morphology of finger (HP:0009832)

Grandparent Node:
Osteolytic defects of the phalanges of the hand (HP:0009771)

Parent Node:
Abnormality of the distal phalanx of the thumb (HP:0009617)

Parent Node:
Osteolytic defect of thumb phalanx (HP:0009654)

Parent Node:
Osteolytic defects of the distal phalanges of the hand (HP:0009839)

..Starting node
..Osteolytic defect of the distal phalanx of the thumb (HP:0009645)

Term ID:

9645

Name:

Osteolytic defect of the distal phalanx of the thumb

Synonym:

Osteolytic defects of the distal phalanx of the thumb; Osteolytic defects of the outermost bone of the thumb

Definition:

Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.

Comments:

Reference:

HP:0009645

Genes and Diseases:

Child Nodes:

Sister Nodes:

Osteolytic defects of the distal phalanx of the 2nd finger (HP:0009561)

Osteolytic defects of the distal phalanx of the 3rd finger (HP:0009424)

Osteolytic defects of the distal phalanx of the 4th finger (HP:0009303)

Osteolytic defects of the distal phalanx of the 5th finger (HP:0009242)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009645	HP:0009645	Osteolytic defect of the distal phalanx of the thumb	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.