Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Glomerulonephritis co-occurrent and due to scleroderma (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tunica adventitia |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aneurysm osteoarthritis syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
CREST syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive cutis laxa type 2A |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
CRST syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Nodular fasciitis (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intradermal nodular fasciitis (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Parosteal nodular fasciitis (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Williams syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epineurium |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cutis laxa, x-linked |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial articular hypermobility syndrome (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Brittle cornea syndrome (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pediatric onset Sjögren syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drug-induced lupus erythematosus |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drug-induced systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Keratoconjunctivitis sicca, in Sjögren's syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lymphoepithelial sialadenitis of Sjögren's syndrome (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary Sjögren's syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lung disease with Sjögren's disease (disorder) |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of bone, connective tissue, skin and breast (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sarcoma of bone and connective tissue |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Carcinoma of bone, connective tissue, skin and breast (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of forearm |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of upper limb and shoulder |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Malignant neoplasm of connective and soft tissue of abdominal wall |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of buttock |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Malignant neoplasm of connective and soft tissue of finger |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of hand |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of inguinal region |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of perineum |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of popliteal space |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue, upper arm |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissues of lumbar spine |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of sacrococcygeal region |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Malignant neoplasm of connective and soft tissue of thumb |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of hip and lower limb |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Connective tissue biomatrix implant |
Has device intended site (attribute) |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
de Barsey syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Marfan syndrome type 1 |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neonatal lupus erythematosus |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lung disease with Sjögren's disease (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile dermatomyositis overlap syndrome (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polymyositis overlap syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dermatomyositis overlap syndrome (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Diffuse systemic sclerosis of childhood (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trabecular meshwork structure |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Subserosa of gallbladder |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of appendiceal submucosa (body structure) |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of supporting tissue of urinary bladder |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Colonic subserosa |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gastric submucosa |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of gastric subserosa (body structure) |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Appendiceal subserosa |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Small intestine subserosa |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of subserosal tissue of liver (body structure) |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Small intestine submucosa |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of supporting tissue of rectum (body structure) |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Connective tissue structure of testis (body structure) |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Uterine submucosa |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of connective tissue of thorax (body structure) |
Is a |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dilated cardiomyopathy with connective tissue disorder (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sarcoma of bone and connective tissue |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe myopia, generalized joint laxity, short stature syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dermatosparaxis Ehlers-Danlos syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures. |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Metastatic carcinoma to bone, connective tissue, skin and breast |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Myopathic Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Classical-like Ehlers-Danlos syndrome type 2 |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pseudoxanthoma elasticum caused by penicillamine |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pseudoxanthoma elasticum due to hemoglobinopathy |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired perforating pseudoxanthoma elasticum of periumbilical region (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Malignant neoplasm of connective and soft tissue of buttock |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of sacrococcygeal region |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of shoulder |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of hip and lower limb |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of connective and soft tissue of upper limb and shoulder |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary carcinoma of bone, connective tissue, skin and breast |
Finding site |
False |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary fibrosarcoma of connective tissue |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and sometimes other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract. The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction, which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms. |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coup de sabre scleroderma |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Linear scleroderma |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Plaque morphea |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Localised scleroderma |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Guttate morphoea |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Subcutaneous morphoea |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neonatal scleroderma |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ehlers-Danlos syndrome classic type 2 |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Drug-induced lupus erythematosus caused by procainamide (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drug-induced lupus erythematosus caused by diphenylhydantoin (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drug-induced lupus erythematosus caused by hydralazine (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cranial fasciitis (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
ALDH18A1-related de Barsy syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lupus pneumonitis |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal systemic lupus erythematosus (disorder) |
Finding site |
True |
Connective tissue structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |