| Metadata | |
|---|---|
| ID | DOID:0070509 |
| Name | Schinzel Giedion syndrome |
| Definition | An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/, https://pubmed.ncbi.nlm.nih.gov/20436468/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:18899000 |
| SKOS |
exactMatch GARD:117 exactMatch MESH:C536632 exactMatch MIM:269150 exactMatch NCI:C129308 exactMatch ORDO:798 exactMatch SNOMEDCT_US_2023_03_01:18899000 exactMatch UMLS_CUI:C0265227 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Schinzel-Giedion midface retraction syndrome [EXACT] SGS [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |