Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 finger phalanx morphology (HP:0005918)

Grandparent Node:
Osteolytic defects of the hand bones (HP:0009699)

Parent Node:
Abnormality of thumb phalanx (HP:0009602)

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

..Starting node
..Osteolytic defect of thumb phalanx (HP:0009654)

Term ID:

9654

Name:

Osteolytic defect of thumb phalanx

Synonym:

Osteolytic defects of the phalanges of the thumb

Definition:

Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.

Comments:

Reference:

HP:0009654

Genes and Diseases:

Child Nodes:

........

Osteolytic defect of the proximal phalanx of the thumb (HP:0009633)

........

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

Sister Nodes:

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

Osteolytic defects of the middle phalanges of the hand (HP:0009847)

Osteolytic defects of the phalanges of the 2nd finger (HP:0009550)

Osteolytic defects of the phalanges of the 3rd finger (HP:0009443)

Osteolytic defects of the phalanges of the 4th finger (HP:0004195)

Osteolytic defects of the phalanges of the 5th finger (HP:0004216)

Osteolytic defects of the proximal phalanges of the hand (HP:0009855)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009654	HP:0009654	Osteolytic defect of thumb phalanx	0	CL E G H
HP:0009654	HP:0009645	Osteolytic defect of the distal phalanx of the thumb	1	CL E G H
HP:0009654	HP:0009633	Osteolytic defect of the proximal phalanx of the thumb	1	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.