Knobloch Syndrome
| Disease Aliases (14) | Kno1 Knobloch syndrome 1 Knobloch syndrome 1; kno1 Knobloch syndrome, type i Knobloch syndrome type 1 Knobloch-layer syndrome Myopia retinal detachment encephalocele Passos-bueno syndrome Retinal detachment and occipital encephalocele Retinal detachment - occipital encephalocele Retinal detachment occipital encephalocele Retinal detachment-occipital encephalocele syndrome |
Associated Genes (1) NCBI-RefSeq: COL18A1 (Collagen type XVIII alpha 1 chain) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Knobloch syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |