MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: benign neoplasm (MONDO:0005165)
Parent Node: endocrine gland neoplasm (MONDO:0002082)
..Starting node ..benign endocrine neoplasm ()
Child Nodes:
........benign carotid body paraganglioma ()
........benign neoplasm of adrenal gland ()
........benign neoplasm of parathyroid gland ()
........benign neoplasm of pituitary gland ()
........benign neoplasm of thymus ()
........benign thyroid gland neoplasm ()
........bile duct papillary neoplasm ()
........hepatocellular adenoma ()
........liver hemangioma ()
........liver leiomyoma ()
........liver lipoma ()
........pineocytoma (disease) ()
Sister Nodes:
..adrenal gland neoplasm ()
..benign endocrine neoplasm ()
..functioning endocrine neoplasm ()
..granulosa cell tumor ()
..liver neoplasm ()
..malignant endocrine neoplasm ()
..neuroendocrine neoplasm ()
..non-functioning endocrine neoplasm ()
..pineal body neoplasm ()
..pituitary tumor ()
..thymus neoplasm ()
..thyroid tumor ()
..tumor of parathyroid gland ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	627
Name:	benign endocrine neoplasm
Definition:	A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign endocrine gland neoplasm; benign endocrine gland tumor; benign endocrine neoplasm; benign endocrine tumor; benign neoplasm of endocrine gland; benign neoplasm of the endocrine gland; benign tumor of endocrine gland; benign tumor of the endocrine gland; endocrine gland benign neoplasm; endocri
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal