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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: Respiratory System Abnormalities (D015619)
..Starting node ..Bronchopulmonary Sequestration (D001998)
Child Nodes:
Sister Nodes:
..Bronchogenic Cyst (D001994)
..Bronchopulmonary Sequestration (D001998)
..Choanal Atresia (D002754) 8
..Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
..Fraser-Like Syndrome (C565562)
..Kartagener Syndrome (D007619) 6
..Laryngocele (D059608)
..Laryngostenosis (D007829)
..Oculoauriculofrontonasal syndrome (C537865)
..Scimitar Syndrome (D012587) 1
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Tracheobronchomegaly (D014137)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1506
Name:	Bronchopulmonary Sequestration
Definition:	A developmental anomaly in which a mass of nonfunctioning lung tissue lacks normal connection with the tracheobroncheal tree and receives an anomalous blood supply originating from the descending thoracic or abdominal aorta. The mass may be extralobar, i.e., completely separated from normally connected lung, or intralobar, i.e., partly surrounded by normal lung.
Alternative IDs:
ParentIDs:	MESH:D015619
TreeNumbers:	C08.695.214 \|C16.131.740.214
Synonyms:	Bronchopulmonary Sequestrations \|Pulmonary Sequestration \|Pulmonary Sequestrations \|Sequestration, Bronchopulmonary \|Sequestration, Pulmonary \|Sequestrations, Bronchopulmonary \|Sequestrations, Pulmonary
Slim Mappings:	Congenital abnormality\|Respiratory tract disease
Reference:	MedGen: D001998 MeSH: D001998 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants