Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital connective tissue disorder |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cyst of canal of Nuck |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital epicardial cyst |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Lupus erythematosus of oral mucous membrane |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Nephropathy co-occurrent and due to systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Lymphangiomyomatosis of connective tissue |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Malignant neoplasm of connective and soft tissue of shoulder |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Gingival disease due to lupus erythematosus |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Pemphigus vulgaris of gingival mucous membrane |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
5 |
Epidermolysis bullosa simplex due to plakophilin deficiency |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Epidermolysis bullosa simplex with circinate migratory erythema |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Epidermolysis bullosa simplex co-occurrent with pyloric atresia |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Nephrosis co-occurrent and due to systemic lupus erythematosus |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Disorder of connective tissue co-occurrent and due to systemic disease |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Late-onset junctional epidermolysis bullosa |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Blindness, scoliosis, arachnodactyly syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cutis laxa of bilateral lower eyelid |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Cutis laxa of bilateral upper eyelid |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Dystrophic epidermolysis bullosa nails only |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Laryngo-onycho-cutaneous syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Neoplasm of uncertain behavior of connective and soft tissue |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Basal epidermolysis bullosa simplex |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Epidermolysis bullosa simplex with muscular dystrophy |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Transient bullous dermolysis of newborn |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Severe generalized recessive dystrophic epidermolysis bullosa |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Keratin 14 related epidermolysis bullosa simplex |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Junctional epidermolysis bullosa non-Herlitz type |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Centripetalis recessive dystrophic epidermolysis bullosa |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Suprabasal epidermolysis bullosa simplex |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Chorea co-occurrent and due to systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Polyneuropathy co-occurrent and due to systemic connective tissue disorder |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Demyelination of central nervous system co-occurrent and due to Sjogren disease |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Demyelination of central nervous system co-occurrent and due to systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autoimmune connective tissue disorder |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acral dystrophic epidermolysis bullosa |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Disorder of eye co-occurrent and due to Marfan syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Dilatation of aortic root due to Marfan's syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Pericarditis co-occurrent and due to systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Pericarditis co-occurrent and due to collagen vascular disease |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pediatric onset Sjögren syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Neonatal Marfan syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Neonatal Marfan syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Cartilage structure |
Is a |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Epidermolysis bullosa simplex due to exophilin 5 deficiency |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Epidermolysis bullosa simplex due to BP230 deficiency |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Brittle cornea syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Ehlers-Danlos syndrome musculocontractural type |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
6 |
Ehlers-Danlos syndrome classic type |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Ehlers-Danlos syndrome due to tenascin-X deficiency |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Ehlers-Danlos syndrome kyphoscoliotic type |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal recessive cutis laxa type 2B |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
|
Shprintzen Goldberg craniosynostosis syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Craniofaciofrontodigital syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Ehlers-Danlos and osteogenesis imperfecta syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Ehlers-Danlos syndrome with periventricular heterotopia |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Ehlers-Danlos syndrome cardiac valvular type |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Ehlers-Danlos syndrome spondylocheirodysplastic type |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Ehlers-Danlos syndrome progeroid type |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Ehlers-Danlos syndrome vascular-like type |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Marfanoid habitus, inguinal hernia, advanced bone age syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
4 |
Cutis laxa, recessive, type I |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cutis laxa, x-linked |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cutis laxa, recessive, type II |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
5 |
Localized congenital cutis laxa |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cutis laxa, autosomal dominant |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive cutis laxa type 2B |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Cutis laxa, autosomal recessive |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Inherited cutis laxa |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Localized abdominal wall skin atrophy |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |
Neonatal cutis laxa with marfanoid phenotype |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Progressive systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic sclerosis, diffuse |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic sclerosis caused by chemical |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic sclerosis sine scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Occupational scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pericarditis co-occurrent and due to scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pediatric onset systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Renal involvement in scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acute scleroderma renal crisis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Primary biliary cirrhosis co-occurrent with systemic scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
3 |
Neonatal scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Lung disease with systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic sclerosis with limited cutaneous involvement |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic sclerosis induced by drugs and chemicals |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Limited systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
1 |
Glomerulonephritis co-occurrent and due to scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Existential restriction modifier |
2 |