loading...| Preferred Name |
Rubinstein-Taybi syndrome |
|
| Synonyms |
Broad thumb-hallux syndrome |
|
| Definitions |
A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_783 |
|
| alternative_term |
Broad thumb-hallux syndrome Broad thumbs-halluces syndrome |
|
| definition |
A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal dominant Unknown |
|
| hasDbXref |
OMIM:610543 ICD-10:Q87.2 OMIM:180849 OMIM:613684 MeSH:D012415 MedDRA:10039281 ICD-11:LD2F.1Y UMLS:C0035934 |
|
| label |
Rubinstein-Taybi syndrome |
|
| notation |
ORPHA:783 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_98655 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_498454 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
|
| prefixIRI |
ORDO:Orphanet_783 |
|
| prefLabel |
Rubinstein-Taybi syndrome |
|
| present_in |
Netherlands AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_98655 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_498454 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| subClassOf |