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 upper limb metaphysis morphology (HP:0009809)

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

Parent Node:
Abnormal ulnar metaphysis morphology (HP:0004039)

..Starting node
..Pointed ulnar metaphysis (HP:0004044)

Term ID:

4044

Name:

Pointed ulnar metaphysis

Synonym:

Definition:

Comments:

Reference:

HP:0004044

Genes and Diseases:

Child Nodes:

Sister Nodes:

Corner fragments of ulnar metaphysis (HP:0004040)

Cupped ulnar metaphysis (HP:0004041)

Lytic defects of ulnar metaphysis (HP:0004043)

Sloping ulnar metaphysis (HP:0004045)

Spurred ulnar metaphysis (HP:0004046)

Ulnar metaphyseal irregularity (HP:0004042)

Wide ulnar metaphysis (HP:0004047)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004044	HP:0004044	Pointed ulnar metaphysis	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.