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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: Growth Disorders (D006130)
Parent Node: Hypogonadism (D007006)
Parent Node: Intellectual Disability (D008607)
Parent Node: Mitral Valve Prolapse (D008945)
..Starting node ..Cantalamessa Baldini Ambrosi syndrome (C537981)
Child Nodes:
Sister Nodes:
..Borrone Di Rocco Crovato syndrome (C536577)
..Cantalamessa Baldini Ambrosi syndrome (C537981)
..Cardiac valvular dysplasia, X-linked (C535576)
..MASS syndrome (C536030)
..MITRAL VALVE PROLAPSE, FAMILIAL (OMIM:157700)
..Mitral valve prolapse, familial, X-linked (C537478)
..Mitral Valve Prolapse, Myxomatous 1 (C563573)
..Mitral Valve Prolapse, Myxomatous 2 (C564326)
..Mitral Valve Prolapse, Myxomatous 3 (C563655)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1619
Name:	Cantalamessa Baldini Ambrosi syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006130\|MESH:D007006\|MESH:D008607\|MESH:D008945
TreeNumbers:	C10.597.606.643/C537981 \|C14.280.484.400.500/C537981 \|C19.391.482/C537981 \|C23.550.393/C537981 \|C23.888.592.604.646/C537981 \|F03.550.600/C537981
Synonyms:	Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation
Slim Mappings:	Cardiovascular disease\|Endocrine system disease\|Mental disorder\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C537981 MeSH: C537981 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants