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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Preferred Name | Ehlers-Danlos syndrome | |
| Synonyms |
elastic skin Cutis hyperelastica |
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| Definitions |
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_13359 |
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| comment |
OMIM mapping confirmed by DO. [LS].
OMIM mapping by NeuroDevNet. [LS].
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| database_cross_reference |
UMLS_CUI:C0013720 OMIM:PS130000 MESH:D004535 ICD10CM:Q79.6 GARD:6322 SNOMEDCT_US_2021_09_01:268352002 ICD9CM:756.83 NCI:C34568
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| definition |
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. OMIM mapping confirmed by DO. [LS].
OMIM mapping by NeuroDevNet. [LS].
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| has_alternative_id |
DOID:14696
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| has_exact_synonym |
elastic skin Cutis hyperelastica
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| has_obo_namespace |
disease_ontology
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| IAO_0000115 |
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
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| id |
DOID:13359
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| in_subset | ||
| label |
Ehlers-Danlos syndrome
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| notation |
DOID:13359
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| note |
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. OMIM mapping confirmed by DO. [LS].
OMIM mapping by NeuroDevNet. [LS].
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| prefLabel |
Ehlers-Danlos syndrome
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| subClassOf |
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