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loading...| Preferred Name |
Trichothiodystrophy |
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| Synonyms |
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| Definitions |
A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C4924 |
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| ALT_DEFINITION |
A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation. |
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| code |
C4924 |
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| Contributing_Source |
Cellosaurus CTRP |
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| definition |
A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility. |
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| Display_Name |
Trichothiodystrophy |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Trichothiodystrophy |
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| Legacy Concept Name |
Trichothiodystrophy |
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| Preferred_Name |
Trichothiodystrophy |
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| prefixIRI |
NCIT:C4924 |
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| prefLabel |
Trichothiodystrophy |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1955934 |
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| subClassOf |
http://purl.obolibrary.org/obo/NCIT_C3101 |
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