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 60
Al Gazali-Nair Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



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 11.6

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

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

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
4 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
5 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
6 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
7 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
8 abnormality of the eye 60 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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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