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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: Bronchial Diseases (D001982)
Parent Node: Respiratory System Abnormalities (D015619)
Parent Node: Tracheal Diseases (D014133)
..Starting node ..Tracheobronchomegaly (D014137)
Child Nodes:
Sister Nodes:
..Novak syndrome (C537851)
..Tracheal Neoplasms (D014134)
..Tracheal Stenosis (D014135) 3
..Tracheitis (D014136)
..Tracheobronchomalacia (D055089) 4
..Tracheobronchomegaly (D014137)
..Tracheobronchopathia osteoplastica (C536977)
..Tracheoesophageal Fistula (D014138) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11189

Name:

Tracheobronchomegaly

Definition:

A rare and probably congenital condition characterized by great enlargement of the lumen of the trachea and the larger bronchi.

Alternative IDs:

ParentIDs:

MESH:D001982|MESH:D014133|MESH:D015619

TreeNumbers:

C08.127.930 |C08.695.830 |C08.907.830 |C16.131.740.830

Synonyms:

Slim Mappings:

Congenital abnormality|Respiratory tract disease

Reference:

MedGen: D014137
MeSH: D014137
OMIM: 275300;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0002110	Bronchiectasis
4	HP:0001522	Death in infancy
5	HP:0006509	Diverticulosis of trachea
6	HP:0006538	Recurrent bronchopulmonary infections

Disease Causing ClinVar Variants