WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:13359 Ehlers-Danlos syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  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.

1 Ontology

Name
Disease Ontology

6 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
DOID:13359 Ehlers-Danlos syndrome 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.
DOID:854 collagen disease A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.

27 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:13359 DOID:0050802
is_a DOID:13359 DOID:0080726
is_a DOID:13359 DOID:0080727
is_a DOID:13359 DOID:0080728
is_a DOID:13359 DOID:0080729
is_a DOID:13359 DOID:0080730
is_a DOID:13359 DOID:0080731
is_a DOID:13359 DOID:0080732
is_a DOID:13359 DOID:0080733
is_a DOID:13359 DOID:0080734
is_a DOID:13359 DOID:0080735
is_a DOID:13359 DOID:0080736
is_a DOID:13359 DOID:0080737
is_a DOID:13359 DOID:0080738
is_a DOID:13359 DOID:0080739
is_a DOID:13359 DOID:0080986
is_a DOID:13359 DOID:0080987
is_a DOID:854 DOID:13359
is_a DOID:65 DOID:13359
is_a DOID:7 DOID:13359
is_a DOID:17 DOID:13359
is_a DOID:4 DOID:13359
is_a DOID:13359 DOID:14720
is_a DOID:13359 DOID:14756
is_a DOID:13359 DOID:14757
is_a DOID:13359 DOID:14759
is_a DOID:13359 DOID:14775

3 Synonyms

Name Type
Cutis hyperelastica synonym
elastic skin synonym
DOID:14696 alt_id