loading...| Preferred Name |
Rubinstein-Taybi Syndrome |
|
| Synonyms |
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|
| Definitions |
An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037620 |
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| Database_Cross_Reference |
ICD10CM:Q87.2 MTH:NOCODE NDFRT:N0000002657 NCI_NICHD:C75466 NCI:C75466 SNOMEDCT_US:157032007 SNM:D-5023 OMIM:180849 MDR:10039281 SNMI:D4-00201 CHV:0000010964 RCD:PKy73 SNOMEDCT_US:45582004 MSH:D012415 DO:DOID:1933 OMIM:600140 JABL:565 MEDCIN:33385 |
|
| Definition |
An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. |
|
| label |
Rubinstein-Taybi Syndrome |
|
| MCID |
MC00011520 |
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| PMOID |
PMO:00037620 |
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| prefixIRI |
pmo:PMO_00037620 |
|
| prefLabel |
Rubinstein-Taybi Syndrome |
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| Synonym |
Broad Thumb-Hallux Syndrome Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Broad Thumb Hallux Syndrome Syndrome, Rubinstein-Taybi proximal chromosome 16p13.3 deletion syndrome Broad Thumb-Hallux Syndromes Broad Thumb-Hallux syndrome Syndromes, Broad Thumb-Hallux Syndrome, Rubinstein rubinstein taybi syndrome Rubinstein syndrome BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION broad thumb-mental retardation syndrome syndrome rubinstein taybi Rubinstein-Taybi syndrome (RSTS, RTS) Rubinstein-Taybi syndrome (disorder) rubinstein-taybi syndrome RSTS1 Rubinstein Taybi Syndrome Rubinstein Syndrome Rubinstein-Taybi syndrome rubinstein syndrome Rubenstein-Taybi syndrome rubenstein taybi syndrome BROAD THUMB-HALLUX SYNDROME Syndrome, Broad Thumb-Hallux Rubenstein-Taybi syndrome (diagnosis) rubenstein-taybi syndrome RUBINSTEIN SYNDROME RUBINSTEIN-TAYBI SYNDROME 1 broad thumb-hallux syndrome Rubinstein-Taybi Syndrome [Disease/Finding] rubinstein taybis syndrome |
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| Tree Number |
T9.8.4.32.6 T3.25.90.4 T9.3.9.22.2.5 T9.8.3.1.44 T9.21.1.5.9.4 T3.25.70.9.4 T3.25.11.5.9.4 T9.8.3.9.6 T9.8.3.7.8.5 T9.3.6.8.5 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00039944 http://www.phoc.org.cn/pmo/class/PMO_00040090 |