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:
Lymphoma (HP:0002665)

Parent Node:
Non-Hodgkin lymphoma (HP:0012539)

..Starting node
..Primary central nervous system lymphoma (HP:0030069)

Term ID:

30069

Name:

Primary central nervous system lymphoma

Synonym:

Primary CNS lymphoma

Definition:

A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.

Comments:

Reference:

HP:0030069

Genes and Diseases:

Child Nodes:

Sister Nodes:

B-cell lymphoma (HP:0012191)

Burkitt lymphoma (HP:0030080)

T-cell lymphoma (HP:0012190)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030069	HP:0030069	Primary central nervous system lymphoma	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.

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