| Metadata | |
|---|---|
| ID | DOID:0070793 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070793 Copy |
| Name | FICUS syndrome |
| Definition | An autosomal recessive intellectual developmental disorder characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities that has_material_basis_in homozygous mutation in the LSM1 gene on chromosome 8p11. https://pubmed.ncbi.nlm.nih.gov/31010896/, https://pubmed.ncbi.nlm.nih.gov/40204357/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6011251 exactMatch MIM:621193 |
| Subsets |
DO_rare_slim |
| Synonyms |
facial dysmorphism, impaired intellectual development, and cardiac, urogenital, and skeletal anomalies [EXACT] FICUS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |