loading...| Preferred Name |
Rabson-Mendenhall Syndrome |
|
| Synonyms |
Rabson-Mendenhall Syndrome |
|
| Definitions |
An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131000 |
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| ALT_DEFINITION |
An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome. |
|
| code |
C131000 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome. |
|
| FULL_SYN |
Rabson-Mendenhall Syndrome |
|
| label |
Rabson-Mendenhall Syndrome |
|
| Preferred_Name |
Rabson-Mendenhall Syndrome |
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| prefixIRI |
Thesaurus:C131000 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0271695 |
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| subClassOf |