Source: CLINVAR
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1866195 | Downturned corners of mouth | phenotype | Anatomical Abnormality | Abnormality of head or neck | 12 | 14 |
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1866195 | Downturned corners of mouth | phenotype | Anatomical Abnormality | Abnormality of head or neck | 12 | 14 |