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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hereditary disorder of connective tissue
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Accession:EFO:MONDO:0023603 term browser browse the term
Definition:An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
Synonyms:exact_synonym: Mendelian connective tissue disorder;   NCIT:C97075;   http://identifiers.org/medgen/473110;   http://identifiers.org/snomedct/363045008;   http://linkedlifedata.com/resource/umls/id/C0410787
 related_synonym: Hereditary Connective Tissue Disorder;   Inherited disorder of connective tissue
 alt_id: MONDO:0023603
 xref: MEDGEN:473110;   NCI:C97075;   SCTID:363045008;   UMLS:C0410787


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          connective tissue disease 0
            hereditary disorder of connective tissue 0
              ADAR-related type 1 interferonopathy + 0
              Acroosteolysis dominant type 0
              Aicardi-Goutieres syndrome + 0
              Blau syndrome 0
              CHILD syndrome 0
              Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 0
              Desbuquois dysplasia 2 0
              Desmoid-type fibromatosis + 0
              EMILIN-1-related connective tissue disease 0
              Ehlers-Danlos syndrome, kyphoscoliotic type 1 0
              Ewing sarcoma of bone 0
              IFIH1-related type 1 interferonopathy + 0
              MASS syndrome 0
              Maffucci syndrome 0
              Marfan and Marfan-related disorder + 0
              Ollier disease 0
              Pelger-Huet-like anomaly and episodic fever with abdominal pain 0
              Peyronie disease + 0
              RNU7-1-related type 1 interferonopathy + 0
              STING-associated vasculopathy with onset in infancy 0
              Singleton-Merten dysplasia + 0
              Spondyloenchondrodysplasia with immune dysregulation 0
              TREX1-related type 1 interferonopathy + 0
              VEXAS syndrome 0
              X-linked reticulate pigmentary disorder 0
              aneurysmal bone cyst 0
              arterial tortuosity syndrome 0
              autoimmune interstitial lung disease-arthritis syndrome 0
              autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0
              autoinflammatory disease, X-linked 0
              autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0
              autoinflammatory disease, systemic, with vasculitis 0
              autoinflammatory syndrome with immunodeficiency 0
              autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0
              autoinflammatory syndrome, familial, Behcet-like + 0
              autosomal recessive inherited pseudoxanthoma elasticum 0
              autosomal systemic lupus erythematosus type 16 0
              bone fragility with contractures, arterial rupture, and deafness 0
              brittle cornea syndrome 0
              cherubism 0
              chondrocalcinosis 2 0
              chondrosarcoma + 0
              chronic myelogenous leukemia + 0
              chronic recurrent multifocal osteomyelitis + 0
              congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0
              deficiency of adenosine deaminase 2 + 0
              dermatofibrosarcoma protuberans 0
              diaphyseal medullary stenosis-bone malignancy syndrome 0
              encephalocraniocutaneous lipomatosis 0
              familial chilblain lupus + 0
              familial isolated pituitary adenoma + 0
              hereditary multiple osteochondromas + 0
              hereditary periodic fever syndrome + 0
              hyperparathyroidism 2 with jaw tumors 0
              hyperparathyroidism 4 0
              idiopathic juvenile osteoporosis 0
              immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome + 0
              infantile myofibromatosis + 0
              inherited acute myeloid leukemia 0
              jugulotympanic paraganglioma + 0
              juvenile hyaline fibromatosis 0
              multiple epiphyseal dysplasia due to collagen 9 anomaly + 0
              multiple symmetric lipomatosis 0
              myxoid liposarcoma + 0
              neonatal inflammatory skin and bowel disease + 0
              neonatal severe primary hyperparathyroidism 0
              orbit embryonal rhabdomyosarcoma 0
              ossification of the posterior longitudinal ligament of the spine 0
              progeroid and marfanoid aspect-lipodystrophy syndrome 0
              proteosome-associated autoinflammatory syndrome + 0
              psoriasis 14, pustular 0
              pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0
              spondylo-ocular syndrome 0
              sweet syndrome 0
              trichohepatoenteric syndrome 0
              type 2 collagenopathy + 0
              uterine fibroid + 0
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