MCID: OST142
MIFTS: 13

Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

MalaCards integrated aliases for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome:

Name: Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 58
Al Gazali-Nair Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

MalaCards based summary : Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome, also known as al gazali-nair syndrome, is related to al gazali sabrinathan nair syndrome. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and seizures

Related Diseases for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Diseases related to Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 al gazali sabrinathan nair syndrome 11.7

Symptoms & Phenotypes for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Human phenotypes related to Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
6 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
7 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
8 abnormality of the eye 58 Very frequent (99-80%)

Drugs & Therapeutics for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome

Genetic Tests for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Anatomical Context for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

MalaCards organs/tissues related to Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome:

40
Bone, Eye

Publications for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Variations for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Expression for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Search GEO for disease gene expression data for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome.

Pathways for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

GO Terms for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

Sources for Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual...

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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