Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Metaphyseal chondrodysplasia | | IAGP | | 8554872 | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia | ClinVar | PMID:21683322 more ... | Relative macrocephaly | | IAGP | | 8554872 | ClinVar Annotator: match by term: Relatively large head | ClinVar | PMID:21683322 more ... | Short stature | | IAGP | | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:21683322 more ... | Wide mouth | | IAGP | | 8554872 | ClinVar Annotator: match by term: Large oral aperture | ClinVar | PMID:21683322 more ... | Wide nasal bridge | | IAGP | | 8554872 | ClinVar Annotator: match by term: Wide bridge of nose | ClinVar | PMID:21683322 more ... | |