| Metadata | |
|---|---|
| ID | DOID:0051067 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051067 Copy |
| Name | Fontaine progeroid syndrome |
| Definition | A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/35679445/, https://www.ncbi.nlm.nih.gov/books/NBK581082/ |
| Xrefs | |
| Synonyms |
Gorlin-Chaudhry-Moss syndrome [EXACT] Progeroid Syndrome, Congenital, Petty Type [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a progeroid syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |