MCID: KRN006
MIFTS: 7

Karandikar Maria Kamble Syndrome

Categories: Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Karandikar Maria Kamble Syndrome

MalaCards integrated aliases for Karandikar Maria Kamble Syndrome:

Name: Karandikar Maria Kamble Syndrome 52 71
Congenital Cataract with Multiple Congenital Anomalies in a Sibship 52
Cataract Mental Retardation Anal Atresia Urinary Defects 52

Classifications:



External Ids:

UMLS 71 C2931391

Summaries for Karandikar Maria Kamble Syndrome

MalaCards based summary : Karandikar Maria Kamble Syndrome, also known as congenital cataract with multiple congenital anomalies in a sibship, is related to cataract-intellectual disability-anal atresia-urinary defects syndrome and cataract.

Related Diseases for Karandikar Maria Kamble Syndrome

Diseases related to Karandikar Maria Kamble Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract-intellectual disability-anal atresia-urinary defects syndrome 11.9
2 cataract 10.2

Symptoms & Phenotypes for Karandikar Maria Kamble Syndrome

Drugs & Therapeutics for Karandikar Maria Kamble Syndrome

Search Clinical Trials , NIH Clinical Center for Karandikar Maria Kamble Syndrome

Genetic Tests for Karandikar Maria Kamble Syndrome

Anatomical Context for Karandikar Maria Kamble Syndrome

Publications for Karandikar Maria Kamble Syndrome

Articles related to Karandikar Maria Kamble Syndrome:

# Title Authors PMID Year
1
Congenital cataract with multiple congenital anomalies in a sibship. 61
541035 1979

Variations for Karandikar Maria Kamble Syndrome

Expression for Karandikar Maria Kamble Syndrome

Search GEO for disease gene expression data for Karandikar Maria Kamble Syndrome.

Pathways for Karandikar Maria Kamble Syndrome

GO Terms for Karandikar Maria Kamble Syndrome

Sources for Karandikar Maria Kamble Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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