MCID: RRN017
MIFTS: 10

Rare Intellectual Disability

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Intellectual Disability

MalaCards integrated aliases for Rare Intellectual Disability:

Name: Rare Intellectual Disability 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA87277

Summaries for Rare Intellectual Disability

Related Diseases for Rare Intellectual Disability

Graphical network of the top 20 diseases related to Rare Intellectual Disability:



Diseases related to Rare Intellectual Disability

Symptoms & Phenotypes for Rare Intellectual Disability

Drugs & Therapeutics for Rare Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Rare Intellectual Disability

Genetic Tests for Rare Intellectual Disability

Anatomical Context for Rare Intellectual Disability

MalaCards organs/tissues related to Rare Intellectual Disability:

40
Eye

Publications for Rare Intellectual Disability

Articles related to Rare Intellectual Disability:

# Title Authors PMID Year
1
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. 61
29300384 2018
2
A 69-year-old woman with Coffin-Siris syndrome. 61
30055038 2018
3
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 61
25724810 2015
4
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. 61
25355368 2015
5
Aging in rare intellectual disability syndromes. 61
23949831 2013
6
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome. 61
22821547 2012

Variations for Rare Intellectual Disability

Expression for Rare Intellectual Disability

Search GEO for disease gene expression data for Rare Intellectual Disability.

Pathways for Rare Intellectual Disability

GO Terms for Rare Intellectual Disability

Sources for Rare Intellectual Disability

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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