MCID: CNT052
MIFTS: 6

Cantalamessa Baldini Ambrosi Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cantalamessa Baldini Ambrosi Syndrome

MalaCards integrated aliases for Cantalamessa Baldini Ambrosi Syndrome:

Name: Cantalamessa Baldini Ambrosi Syndrome 54 74
Primary Gonadal Failure, Short Stature, Mitral Valve Prolapse, and Mental Retardation 54

Classifications:



External Ids:

UMLS 74 C2931685

Summaries for Cantalamessa Baldini Ambrosi Syndrome

MalaCards based summary : Cantalamessa Baldini Ambrosi Syndrome, also known as primary gonadal failure, short stature, mitral valve prolapse, and mental retardation, is related to hypogonadism-mitral valve prolapse-intellectual disability syndrome and orthostatic intolerance.

Related Diseases for Cantalamessa Baldini Ambrosi Syndrome

Diseases related to Cantalamessa Baldini Ambrosi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadism-mitral valve prolapse-intellectual disability syndrome 11.8
2 orthostatic intolerance 10.4

Symptoms & Phenotypes for Cantalamessa Baldini Ambrosi Syndrome

Drugs & Therapeutics for Cantalamessa Baldini Ambrosi Syndrome

Search Clinical Trials , NIH Clinical Center for Cantalamessa Baldini Ambrosi Syndrome

Genetic Tests for Cantalamessa Baldini Ambrosi Syndrome

Anatomical Context for Cantalamessa Baldini Ambrosi Syndrome

Publications for Cantalamessa Baldini Ambrosi Syndrome

Articles related to Cantalamessa Baldini Ambrosi Syndrome:

# Title Authors Year
1
A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation. ( 2502012 )
1989

Variations for Cantalamessa Baldini Ambrosi Syndrome

Expression for Cantalamessa Baldini Ambrosi Syndrome

Search GEO for disease gene expression data for Cantalamessa Baldini Ambrosi Syndrome.

Pathways for Cantalamessa Baldini Ambrosi Syndrome

GO Terms for Cantalamessa Baldini Ambrosi Syndrome

Sources for Cantalamessa Baldini Ambrosi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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