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 thumb phalanx (HP:0009602)

Grandparent Node:
Sclerosis of finger phalanx (HP:0100899)

Parent Node:
Sclerosis of middle finger phalanx (HP:0100916)

Parent Node:
Sclerosis of thumb phalanx (HP:0100922)

..Starting node
..Sclerosis of the proximal phalanx of the thumb (HP:0100913)

Term ID:

100913

Name:

Sclerosis of the proximal phalanx of the thumb

Synonym:

Increased bone density in the innermost bone of the thumb

Definition:

An elevation of bone density in the proximal phalanx of the thumb.

Comments:

Reference:

HP:0100913

Genes and Diseases:

Child Nodes:

........

Patchy sclerosis of the proximal phalanx of the thumb (HP:0009634)

Sister Nodes:

Ivory epiphysis of the thumb (HP:0009692)

Patchy sclerosis of thumb phalanx (HP:0009655)

Sclerosis of the distal phalanx of the thumb (HP:0100912)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100913	HP:0100913	Sclerosis of the proximal phalanx of the thumb	0	CL E G H
HP:0100913	HP:0009634	Patchy sclerosis 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.