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Term ID: | 4447 |
Name: | Fryns-Aftimos Syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D004827|MESH:D008607|MESH:D019066|MESH:D019465|MESH:D054082 |
TreeNumbers: | C05.660.207/C565258 |C10.228.140.490/C565258 |C10.500.507.450.499/C565258 |C10.597.606.643/C565258 |C16.131.621.207/C565258 |C16.131.666.507.450.499/C565258 |C23.550.291.812/C565258 |C23.888.592.604.646/C565258 |F03.550.600/C565258 |
Synonyms: | Cerebrooculofacial Lymphatic Syndrome |Mental Retardation with Epilepsy and Characteristic Facies |Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies |
Slim Mappings: | Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C565258
MeSH: C565258
OMIM: 606155;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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