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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: Abnormalities, Multiple (D000015)
Parent Node: Digestive System Diseases (D004066)
Parent Node: Tracheal Diseases (D014133)
..Starting node ..Novak syndrome (C537851)
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:	8133
Name:	Novak syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D004066\|MESH:D014133
TreeNumbers:	C06/C537851 \|C08.907/C537851 \|C16.131.077/C537851
Synonyms:	Cleft larynx, posterior \|Laryngotracheoesophageal cleft pulmonary hypoplasia
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Respiratory tract disease
Reference:	MedGen: C537851 MeSH: C537851 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants