loading...| Preferred Name |
Rubinstein-Taybi syndrome |
|
| Synonyms |
proximal chromosome 16p13.3 deletion syndrome Broad thumb-hallux syndrome Rubinstein syndrome Broad thumbs-halluces syndrome RSTS |
|
| Definitions |
Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019188 |
|
| closeMatch | ||
| database_cross_reference |
UMLS:C0035934 Orphanet:783 NCIT:C75466 OMIMPS:180849 SCTID:45582004 GARD:0007593 MedDRA:10039281 MESH:D012415 ICD9:759.89 ICD10:Q87.2 DOID:1933 |
|
| exactMatch |
http://identifiers.org/mesh/D012415 http://purl.obolibrary.org/obo/DOID_1933 http://purl.obolibrary.org/obo/NCIT_C75466 http://www.orpha.net/ORDO/Orphanet_783 http://linkedlifedata.com/resource/umls/id/C0035934 |
|
| has exact synonym |
proximal chromosome 16p13.3 deletion syndrome Broad thumb-hallux syndrome Rubinstein syndrome Broad thumbs-halluces syndrome |
|
| has related synonym |
RSTS |
|
| id |
MONDO:0019188 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
|
| label |
Rubinstein-Taybi syndrome |
|
| notation |
MONDO:0019188 |
|
| prefLabel |
Rubinstein-Taybi syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015218 http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0015945 http://purl.obolibrary.org/obo/MONDO_0020244 http://purl.obolibrary.org/obo/MONDO_0043005 http://purl.obolibrary.org/obo/MONDO_0020237 http://purl.obolibrary.org/obo/MONDO_0100172 http://purl.obolibrary.org/obo/MONDO_0019721 http://purl.obolibrary.org/obo/MONDO_0016756 http://purl.obolibrary.org/obo/MONDO_0016565 http://purl.obolibrary.org/obo/MONDO_0020222 http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/MONDO_0002320 |