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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

Disease Browser
Parent Node: Brain Diseases (D001927)
Parent Node: Granuloma (D006099)
..Starting node ..Granulomas, congenital cerebral (C537294)
Child Nodes:
Sister Nodes:
..Angiolymphoid Hyperplasia with Eosinophilia (D000796)
..Churg-Strauss Syndrome (D015267)
..Eosinophilic Granuloma (D004803)
..Granuloma Annulare (D016460)
..Granuloma, Foreign-Body (D015745)
..Granuloma, Giant Cell (D006101) 3
..Granuloma, Plasma Cell (D006104)
..Granuloma, Pyogenic (D017789)
..Granuloma, Respiratory Tract (D015769) 1
..Granulomas, congenital cerebral (C537294)
..Necrobiotic Xanthogranuloma (D058252)
..Xanthogranulomatous cholecystitis (C536762)
..Xanthogranulomatous sialadenitis (C536763)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4795

Name:

Granulomas, congenital cerebral

Definition:

Alternative IDs:

ParentIDs:

MESH:D001927|MESH:D006099

TreeNumbers:

C10.228.140/C537294 |C15.604.515.292/C537294 |C23.550.382/C537294

Synonyms:

Congenital cerebral granulomas

Slim Mappings:

Lymphatic disease|Nervous system disease|Pathology (process)

Reference:

MedGen: C537294
MeSH: C537294
OMIM: 306300;

Genes:

Phenotypes

1	HP:0001939	Abnormality of metabolism/homeostasis
2	HP:0000707	Abnormality of the nervous system
3	HP:0003811	Neonatal death

Disease Causing ClinVar Variants