loading...| Preferred Name |
Schinzel Giedion syndrome |
|
| Synonyms |
SGS Schinzel-Giedion midface retraction syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0070509 |
|
| Obsolete |
true |
|
| database_cross_reference |
OMIM:269150 NCI:C129308 UMLS_CUI:C0265227 SNOMEDCT_US_2023_03_01:18899000 MESH:C536632 GARD:117 ORDO:798 |
|
| 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. |
|
| has exact match |
OMIM:269150 NCI:C129308 UMLS_CUI:C0265227 SNOMEDCT_US_2023_03_01:18899000 MESH:C536632 GARD:117 ORDO:798 |
|
| has exact synonym |
Schinzel-Giedion midface retraction syndrome SGS |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0070509 |
|
| in_subset | ||
| label |
Schinzel Giedion syndrome |
|
| notation |
DOID:0070509 |
|
| owl:deprecated |
true |
|
| prefLabel |
Schinzel Giedion syndrome |
|
| subClassOf |