Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hspg2 | Chinchilla | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar | PMID:28492532 | Hspg2 | Chinchilla | Childhood Schizophrenia | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Childhood-onset schizophrenia | ClinVar | PMID:26508570 | Hspg2 | Chinchilla | congenital disorder of glycosylation Ir | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar | PMID:28492532 | Hspg2 | Chinchilla | connective tissue disease | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:16927315 more ... | Hspg2 | Chinchilla | genetic disease | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | Hspg2 | Chinchilla | hyperprolinemia type 2 | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperprolinemia type 2 | ClinVar | PMID:28492532 | Hspg2 | Chinchilla | Kniest Like Dysplasia Lethal | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:11279527 more ... | Hspg2 | Chinchilla | microcephaly | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | Hspg2 | Chinchilla | osteochondrodysplasia | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities | ClinVar | PMID:25741868 and PMID:28492532 | Hspg2 | Chinchilla | Parkinson's disease 6 | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar | PMID:28492532 | Hspg2 | Chinchilla | Schwartz-Jampel syndrome 1 | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11038441 more ... | Hspg2 | Chinchilla | Silverman-Handmaker type dyssegmental dysplasia | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | Hspg2 | Chinchilla | Stuve-Wiedemann Syndrome | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stuve-Wiedemann syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Hspg2 | Chinchilla | Stuve-Wiedemann Syndrome 1 | | ISO | HSPG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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