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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Trichorhinophalangeal Syndrome Type II | |
| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_C75118 |
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| code |
C75118
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| Contributing_Source |
Cellosaurus
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| 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.
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| in_subset | ||
| label |
Trichorhinophalangeal Syndrome Type II
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| Legacy Concept Name |
Trichorhinophalangeal_Syndrome_Type_II
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| Preferred_Name |
Trichorhinophalangeal Syndrome Type II
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| prefixIRI |
NCIT:C75118
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| prefLabel |
Trichorhinophalangeal Syndrome Type II
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0023003
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| subClassOf |
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