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 soft tissue neoplasm (MONDO:0044335)
Parent Node: bronchial neoplasm (disease) (MONDO:0002807)
Parent Node: lipoma (MONDO:0005106)
Parent Node: respiratory system benign neoplasm (MONDO:0000382)
Parent Node: thoracic benign neoplasm (MONDO:0000634)
..Starting node ..endobronchial lipoma ()
Child Nodes:
Sister Nodes:
..benign axillary neoplasm ()
..benign neoplasm of chest wall ()
..benign neoplasm of esophagus ()
..benign neoplasm of heart ()
..benign neoplasm of mediastinum ()
..benign neoplasm of pericardium ()
..benign neoplasm of sternum ()
..benign neoplasm of thymus ()
..breast benign neoplasm ()
..endobronchial lipoma ()
..lung benign neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	961
Name:	endobronchial lipoma
Definition:	A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	endobronchial lipoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PTGDR;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal