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 | GEXO | SAME_URI | |
http://identifiers.org/omim/180849 | RETO | SAME_URI | |
http://purl.bioontology.org/ontology/OMIM/180849 | OMIM | LOOM | |
http://identifiers.org/omim/180849 | GEXO | LOOM | |
http://identifiers.org/omim/180849 | RETO | LOOM | |
http://purl.obolibrary.org/obo/OMIM_180849 | CCO | LOOM |