MCID: ALG005
MIFTS: 6

Al Gazali Sabrinathan Nair Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Al Gazali Sabrinathan Nair Syndrome

MalaCards integrated aliases for Al Gazali Sabrinathan Nair Syndrome:

Name: Al Gazali Sabrinathan Nair Syndrome 52 71
Osteogenesis Imperfecta Retinopathy Seizures Intellectual Deficit 52
Al Gazali-Nair Syndrome 52

Classifications:



External Ids:

UMLS 71 C2930952

Summaries for Al Gazali Sabrinathan Nair Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2773 Definition Osteogenesis imperfecta-retinopathy-seizures -intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay . It has been described in two sibs born to consanguineous parents. Visit the Orphanet disease page for more resources.

MalaCards based summary : Al Gazali Sabrinathan Nair Syndrome, also known as osteogenesis imperfecta retinopathy seizures intellectual deficit, is related to osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome. Affiliated tissues include bone.

Related Diseases for Al Gazali Sabrinathan Nair Syndrome

Diseases related to Al Gazali Sabrinathan Nair Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 11.7

Symptoms & Phenotypes for Al Gazali Sabrinathan Nair Syndrome

Drugs & Therapeutics for Al Gazali Sabrinathan Nair Syndrome

Search Clinical Trials , NIH Clinical Center for Al Gazali Sabrinathan Nair Syndrome

Genetic Tests for Al Gazali Sabrinathan Nair Syndrome

Anatomical Context for Al Gazali Sabrinathan Nair Syndrome

MalaCards organs/tissues related to Al Gazali Sabrinathan Nair Syndrome:

40
Bone

Publications for Al Gazali Sabrinathan Nair Syndrome

Variations for Al Gazali Sabrinathan Nair Syndrome

Expression for Al Gazali Sabrinathan Nair Syndrome

Search GEO for disease gene expression data for Al Gazali Sabrinathan Nair Syndrome.

Pathways for Al Gazali Sabrinathan Nair Syndrome

GO Terms for Al Gazali Sabrinathan Nair Syndrome

Sources for Al Gazali Sabrinathan Nair 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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