loading...| Preferred Name | Trichorhinophalangeal Syndrome Type II | |
| Synonyms |
Trichorhinophalangeal Syndrome Type II Langer-Giedion Syndrome |
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| Definitions |
A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75118 |
|
| code |
C75118 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation. |
|
| FULL_SYN |
Trichorhinophalangeal Syndrome Type II Langer-Giedion Syndrome |
|
| label |
Trichorhinophalangeal Syndrome Type II |
|
| Legacy Concept Name |
Trichorhinophalangeal_Syndrome_Type_II |
|
| Preferred_Name |
Trichorhinophalangeal Syndrome Type II |
|
| prefixIRI |
Thesaurus:C75118 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0023003 |
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| subClassOf |