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:
Sclerosis of proximal finger phalanx (HP:0100917)

Parent Node:
Abnormal 1st metacarpal morphology (HP:0010009)

Parent Node:
Sclerosis of the 1st metacarpal (HP:0100914)

..Starting node
..Patchy sclerosis of the 1st metacarpal (HP:0010031)

Term ID:

10031

Name:

Patchy sclerosis of the 1st metacarpal

Synonym:

Uneven increase in bone density in 1st long bone of hand

Definition:

Uneven increase in bone density within the 1st metacarpal.

Comments:

Reference:

HP:0010031

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010031	HP:0010031	Patchy sclerosis of the 1st metacarpal	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.