| Metadata | |
|---|---|
| ID | DOID:0111158 |
| Name | SADDAN |
| Definition | A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. https://www.ncbi.nlm.nih.gov/pubmed/10053006, https://ghr.nlm.nih.gov/condition/saddan |
| Xrefs |
SNOMEDCT_US_2023_03_01:699870002 |
| Subsets |
DO_rare_slim |
| Synonyms |
SADDAN dysplasia [EXACT] severe achondroplasia with developmental delay and acanthosis nigricans [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |