Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Baraitser-Winter zerebro-fronto-faziales Syndrom |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Feingold syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
GRACILE syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Trichohepatoenteric syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Weill-Marchesani syndrome (disorder) |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Solitary median maxillary central incisor syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Postviral fatigue syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
KBG syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
A clinical disease characterized by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST, intramural mesenchymal tumours of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome |
Is a |
False |
trouble multisytémique |
Inferred relationship |
Some |
|