MCID: DSL004
MIFTS: 8

Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation

Categories: Ear diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

MalaCards integrated aliases for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation:

Name: Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 56

Classifications:



External Ids:

OMIM 56 603133
MedGen 41 C1864183

Summaries for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

MalaCards based summary : Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation is related to branchiootic syndrome 1 and scoliosis.

More information from OMIM: 603133

Related Diseases for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Diseases related to Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.6
2 scoliosis 10.6
3 microcephaly 10.6
4 cataract 10.6
5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.6

Graphical network of the top 20 diseases related to Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation:



Diseases related to Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation

Symptoms & Phenotypes for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Clinical features from OMIM:

603133

Drugs & Therapeutics for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Search Clinical Trials , NIH Clinical Center for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation

Genetic Tests for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Anatomical Context for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Publications for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Articles related to Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation:

# Title Authors PMID Year
1
Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome. 56
9733034 1998

Variations for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Expression for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Search GEO for disease gene expression data for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation.

Pathways for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

GO Terms for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

Sources for Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract,...

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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