773737004: Nephrocystin 3-related Meckel-like syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\...

\Kidney finding\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Kidney finding\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Liver finding\Disease of liver\...

\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Digestive system finding (finding)\Liver finding\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Digestive system finding (finding)\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal mass\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Mass of urogenital structure\Mass of urinary tract structure (finding)\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Mass of urinary tract structure (finding)\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Mass of trunk\Mass of urogenital structure\Mass of urinary tract structure (finding)\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Mass of trunk\Abdominal mass\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Mass of trunk\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Mass of trunk\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Mass of body structure\Mass of body region\Mass of trunk\...

\Mass of urogenital structure\Mass of urinary tract structure (finding)\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Abdominal mass\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Cyst (disorder)\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Cyst of abdomen (disorder)\Retroperitoneal cyst\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Congenital renal cyst (disorder)\Congenital cystic kidney disease\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3726061018 A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3726052018 Meckel syndrome type 7 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3726053011 NPHP3-related Meckel-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3726054017 Nephrocystin 3-related Meckel-like syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3726055016 Nephrocystin 3-related Meckel-like syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3726056015 Goldston syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3726057012 Meckel-like syndrome type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3726058019 NPHP3 (nephrocystin 3) related Meckel-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3726059010 Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Finding site	Liver structure	true	Inferred relationship	Some	3
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Finding site	Kidney structure	true	Inferred relationship	Some	2
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Associated morphology	Polycystic change	true	Inferred relationship	Some	2
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Associated morphology	Fibrosis	true	Inferred relationship	Some	3
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Occurrence	Congenital	true	Inferred relationship	Some	3
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Congenital hepatic fibrosis	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Congenital cystic kidney disease	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Occurrence	Congenital	true	Inferred relationship	Some	2
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3726061018	A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726052018	Meckel syndrome type 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726053011	NPHP3-related Meckel-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726054017	Nephrocystin 3-related Meckel-like syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3726055016	Nephrocystin 3-related Meckel-like syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3726056015	Goldston syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726057012	Meckel-like syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726058019	NPHP3 (nephrocystin 3) related Meckel-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726059010	Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core