loading...| Preferred Name |
Trichothiodystrophy |
|
| Synonyms |
Trichothiodystrophy Trichothiodystrophy Syndrome trichothiodystrophy |
|
| Definitions |
A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4924 |
|
| ALT_DEFINITION |
A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation. |
|
| code |
C4924 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CTRP |
|
| DEFINITION |
A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility. |
|
| Display_Name |
Trichothiodystrophy |
|
| FULL_SYN |
Trichothiodystrophy Trichothiodystrophy Syndrome trichothiodystrophy |
|
| label |
Trichothiodystrophy |
|
| Legacy Concept Name |
Trichothiodystrophy |
|
| Preferred_Name |
Trichothiodystrophy |
|
| prefixIRI |
Thesaurus:C4924 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C1955934 |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |