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loading...| Preferred Name |
Hereditary Connective Tissue Disorder |
|
| Synonyms |
Hereditary Connective Tissue Disorder Connective Tissue Hereditary Disorder |
|
| Definitions |
An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97075 |
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| code |
C97075 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. |
|
| FULL_SYN |
Hereditary Connective Tissue Disorder Connective Tissue Hereditary Disorder |
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| label |
Hereditary Connective Tissue Disorder |
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| Preferred_Name |
Hereditary Connective Tissue Disorder |
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| prefixIRI |
Thesaurus:C97075 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0410787 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/NCIT_C97075 | BERO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0023603 | KTAO | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Connective_Tissue_Disorder | CSEO | LOOM |