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 morphology of the cortex of the humerus (HP:0010629)

Grandparent Node:
Cortical irregularity (HP:0005731)

Parent Node:
Abnormal humeral diaphysis morphology (HP:0003926)

Parent Node:
Cortical diaphyseal irregularity of the upper limbs (HP:0003858)

Parent Node:
Humeral cortical irregularity (HP:0003867)

..Starting node
..Cortical irregularity of humeral diaphysis (HP:0003927)

Term ID:

3927

Name:

Cortical irregularity of humeral diaphysis

Synonym:

Definition:

An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.

Comments:

Reference:

HP:0003927

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:0003927	HP:0003927	Cortical irregularity of humeral diaphysis	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.