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 carpal morphology (HP:0001191)

Parent Node:
Abnormality of carpal bone ossification (HP:0006257)

Parent Node:
Abnormality of the trapezium (HP:0004252)

..Starting node
..Absent trapezium (HP:0004253)

Term ID:

4253

Name:

Absent trapezium

Synonym:

Absent trapezium bone

Definition:

Comments:

Reference:

HP:0004253

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal ossification of the trapezium (HP:0045001)

Small trapezium (HP:0004255)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004253	HP:0004253	Absent trapezium	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.