Term ID: | 3374 |
Name: | Digitorenocerebral Syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D006228|MESH:D006319|MESH:D008607|MESH:D009264|MESH:D019465 |
TreeNumbers: | C05.390.408/C563052 |C05.660.207/C563052 |C05.660.585.988.425/C563052 |C09.218.458.341.887/C563052 |C10.597.606.643/C563052 |C10.597.751.418.341.887/C563052 |C16.131.621.207/C563052 |C16.131.621.585.425/C563052 |C23.300.820/C563052 |C23.888.592.604.646/C563052 |C2 |
Synonyms: | Brachydactyly due to Absence of Distal Phalanges |Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome |DOOR Syndrome |Eronen Syndrome |
Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms |
Reference: |
MedGen: C563052
MeSH: C563052
OMIM: 222760;
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |