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 upper limb epiphysis morphology (HP:0003839)

Grandparent Node:
obsolete Abnormality of the ulna (HP:0002997)

Parent Node:
Abnormal ulnar epiphysis morphology (HP:0004037)

..Starting node
..Abnormal distal ulnar epiphysis morphology (HP:0010600)

Term ID:

10600

Name:

Abnormal distal ulnar epiphysis morphology

Synonym:

Abnormality of the distal ulnar epiphysis

Definition:

Any abnormality of the distal epiphysis of the ulna.

Comments:

Reference:

HP:0010600

Genes and Diseases:

Child Nodes:

........

Distal ulnar epiphyseal stippling (HP:0006370)

Sister Nodes:

Abnormal proximal ulnar epiphysis morphology (HP:0010601)

Abnormal ulnar styloid process morphology (HP:0004035)

obsolete Bony spicule of ulnar epiphyseal plate (HP:0004038)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010600	HP:0010600	Abnormal distal ulnar epiphysis morphology	0	CL E G H
HP:0010600	HP:0006370	Distal ulnar epiphyseal stippling	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.