Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Pterygium (D011625)
Parent Node: Respiratory Insufficiency (D012131)
..Starting node ..Thompson Baraitser syndrome (C536515)
Child Nodes:
Sister Nodes:
..Acidosis, Respiratory (D000142)
..Airway Obstruction (D000402) 1
..Asphyxiating Thoracic Dystrophy 3 (C567761) 1
..Circumvallate Placenta Syndrome (C565847)
..Granuloma, Laryngeal (D006102)
..Hantavirus Pulmonary Syndrome (D018804)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypoventilation (D007040) 3
..Infantile Apparent Life-Threatening Event (D057768)
..Positive-Pressure Respiration, Intrinsic (D018467)
..Respiratory Paralysis (D012133)
..Respiratory Underresponsiveness to Hypoxia and Hypercapnia (C564848)
..Tauopathy and Respiratory Failure (C563580)
..Thompson Baraitser syndrome (C536515)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10972
Name:	Thompson Baraitser syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D011625\|MESH:D012131
TreeNumbers:	C08.618.846/C536515 \|C11.187.781/C536515
Synonyms:
Slim Mappings:	Eye disease\|Respiratory tract disease
Reference:	MedGen: C536515 MeSH: C536515 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants