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Experimental Factor Ontology
Last uploaded:
January 16, 2025
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| Preferred Name | hereditary disorder of connective tissue | |
| Synonyms |
Hereditary Connective Tissue Disorder inherited disorder of connective tissue Inherited disorder of connective tissue Mendelian connective tissue disorder hereditary connective tissue disorder connective tissue hereditary disorder |
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| 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://purl.obolibrary.org/obo/MONDO_0023603 |
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| database_cross_reference |
UMLS:C0410787 NCIT:C97075 SCTID:363045008 MEDGEN:473110
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|
| definition |
An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
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| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C97075 http://identifiers.org/medgen/473110 |
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| has_exact_synonym |
Mendelian connective tissue disorder hereditary connective tissue disorder connective tissue hereditary disorder
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| has_related_synonym |
Hereditary Connective Tissue Disorder inherited disorder of connective tissue Inherited disorder of connective tissue
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| IAO_0000233 | ||
| id |
MONDO:0023603
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| in_subset | ||
| label |
hereditary disorder of connective tissue
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|
| notation |
MONDO:0023603
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|
| preferred label |
hereditary disorder of connective tissue
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| prefLabel |
hereditary disorder of connective tissue
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| subClassOf |
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