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Variant Pathogenicity
Conditions
Conditions
progressive familial intrahepatic cholestasis type 3
MONDO_0011214
Condition
Cholestasis, Progressive Familial Intrahepatic, type 3
hepatic coma
MONDO_0001548
Condition
Hepatocerebral intoxication
nephropathy, progressive tubulointerstitial, with cholestatic liver disease
MONDO_0011199
Condition
progressive familial intrahepatic cholestasis type 2
MONDO_0011156
Condition
Cholestasis, Progressive Familial Intrahepatic, type 2
symptomatic heart failure
MONDO_0005254
Condition
metastatic melanoma
MONDO_0005191
Condition
Metastatic Melanoma
post-traumatic stress disorder
MONDO_0005146
Condition
PTSD
pancreatic insulin-producing neuroendocrine tumor
MONDO_0005048
Condition
Insulin-Producing tumor of Islet cells
chronic rheumatic pericarditis
MONDO_0002133
Condition
sciatic neuropathy
MONDO_0006960
Condition
non-syndromic diaphragmatic or thoracic malformation
MONDO_0015879
Condition
nonsyndromic diaphragmatic or thoracic malformation
rheumatic fever-related antigen
MONDO_0009995
Condition
symptomatic form of hemophilia B in female carriers
MONDO_0015788
Condition
symptomatic form of hemophilia A in female carriers
MONDO_0015787
Condition
progressive familial intrahepatic cholestasis
MONDO_0015762
Condition
PFIC
pancreatic insufficiency, combined exocrine
MONDO_0009834
Condition
pancreatic agenesis
MONDO_0009832
Condition
Congenital pancreatic agenesis
pericardial and diaphragmatic defect
MONDO_0017301
Condition
pancreatic neuroendocrine tumor G1
MONDO_0021535
Condition
Enterochromaffin Cell Serotonin-Producing Pancreatic Neuroendocrine Tumor
obsolete genetic pancreatic disease
MONDO_0015618
Condition
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