Jump to:
loading...| Preferred Name |
Rubinstein-Taybi syndrome 1 |
|
| Synonyms |
RSTS1 |
|
| Definitions |
(RSTS1) - A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. |
|
| ID |
http://identifiers.org/omim/180849 |
|
| altLabel |
RSTS1 |
|
| definition |
(RSTS1) - A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. |
|
| id |
OMIM:180849 |
|
| notation |
OMIM:180849 |
|
| prefLabel |
Rubinstein-Taybi syndrome 1 |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/180849 | REXO | SAME_URI | |
| http://identifiers.org/omim/180849 | RETO | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/180849 | OMIM | LOOM | |
| http://identifiers.org/omim/180849 | REXO | LOOM | |
| http://identifiers.org/omim/180849 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_180849 | CCO | LOOM |