Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bethlem Myopathy 1A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar | PMID:26004199 and PMID:28492532 | brachydactyly type E1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly syndrome type E | ClinVar | PMID:11486037 more ... | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:11486037 more ... | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 and PMID:28492532 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 and PMID:28492532 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar | PMID:25741868 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar | PMID:28492532 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar | | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar | PMID:28492532 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar | PMID:28492532 | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar | PMID:20691407 more ... | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar | PMID:20691407 more ... | chromosome 2q37 deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 and PMID:28492532 | D-2-hydroxyglutaric aciduria 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar | PMID:28492532 | D-2-hydroxyglutaric aciduria 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar | PMID:16081310 more ... | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11486037 more ... | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hereditary spastic paraplegia 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30 and autosomal recessive | ClinVar | PMID:28492532 | hereditary spastic paraplegia 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar | PMID:16081310 more ... | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and profound | ClinVar | PMID:11486037 more ... | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and severe | ClinVar | PMID:25741868 and PMID:33537682 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | microcephaly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | multiple myeloma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple myeloma | ClinVar | | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:11486037 more ... | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 and PMID:33537682 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 and PMID:33537682 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:33537682 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ClinVar | PMID:33537682 | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | primary hyperoxaluria type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary hyperoxaluria and type I | ClinVar | PMID:22821680 | syndromic intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic intellectual disability | ClinVar | | |