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Disease association ontology term - MONDO:0023603 - hereditary disorder of connective tissue

Term summary

ID
MONDO:0023603
Name
hereditary disorder of connective tissue
Ontology or CV name
Disease association
Definition
An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.

Parents

Annotation

Disease association

MONDO:0012429 - Aicardi-Goutieres syndrome 2

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MONDO:0012471 - Aicardi-Goutieres syndrome 3

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MONDO:0012472 - Aicardi-Goutieres syndrome 4

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MONDO:0014007 - Aicardi-Goutieres syndrome 6

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MONDO:0700391 - autoinflammation and autoimmunity with immune dysregulation 1

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MONDO:0013944 - autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

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MONDO:0009925 - autosomal recessive inherited pseudoxanthoma elasticum

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MONDO:0010621 - CHILD syndrome

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MONDO:0009050 - Cushing disease due to pituitary adenoma

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MONDO:0007205 - diaphyseal medullary stenosis-bone malignancy syndrome

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MONDO:0007483 - dyschromatosis symmetrica hereditaria

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MONDO:0016002 - Ehlers-Danlos syndrome, kyphoscoliotic type 1

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MONDO:0013766 - familial cold autoinflammatory syndrome 3

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MONDO:0009849 - hyperimmunoglobulinemia D with periodic fever

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MONDO:0007767 - hyperparathyroidism 1

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MONDO:0007768 - hyperparathyroidism 2 with jaw tumors

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MONDO:0012316 - Majeed syndrome

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MONDO:0012481 - mevalonic aciduria

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MONDO:0007908 - multiple symmetric lipomatosis

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MONDO:0054698 - proteasome-associated autoinflammatory syndrome 1

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MONDO:0054700 - proteasome-associated autoinflammatory syndrome 2

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MONDO:0054699 - proteasome-associated autoinflammatory syndrome 3

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MONDO:0968983 - proteasome-associated autoinflammatory syndrome 6

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MONDO:0011462 - pyogenic arthritis-pyoderma gangrenosum-acne syndrome

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MONDO:0008471 - spondyloepiphyseal dysplasia congenita

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MONDO:0009105 - trichohepatoenteric syndrome

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MONDO:0024541 - trichohepatoenteric syndrome 1

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MONDO:0013818 - trichohepatoenteric syndrome 2

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MONDO:0026777 - VEXAS syndrome

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MONDO:0010523 - X-linked reticulate pigmentary disorder

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