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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: Hypothyroidism (D007037)
Parent Node: Tracheal Stenosis (D014135)
..Starting node ..Jung Wolff Back Stahl syndrome (C537694)
Child Nodes:
Sister Nodes:
..Idiopathic subglottic tracheal stenosis (C536283)
..Jung Wolff Back Stahl syndrome (C537694)
..Tracheobronchial Stenosis, Congenital (C566362)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5992
Name:	Jung Wolff Back Stahl syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D007037\|MESH:D014135
TreeNumbers:	C08.907.663/C537694 \|C16.131.077/C537694 \|C19.874.482/C537694
Synonyms:	Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Respiratory tract disease
Reference:	MedGen: C537694 MeSH: C537694 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants