JOUBERT SYNDROME 6
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
48
|
0.900 |
None |
1.000 |
18 |
48
|
1977 |
2017 |
NEPHRONOPHTHISIS 11
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.710 |
None |
1.000 |
7 |
6
|
1977 |
2015 |
BARDET-BIEDL SYNDROME 14, MODIFIER OF
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
BARDET-BIEDL SYNDROME 14 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
17
|
0.600 |
None |
1.000 |
3 |
4
|
1977 |
2015 |
Cerebellar malformation
|
disease |
|
Finding
|
2
|
3
|
0.100 |
None |
|
0 |
2
|
|
|
Meckel syndrome type 3
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
39
|
0.950 |
None |
1.000 |
16 |
39
|
1977 |
2019 |
RHYNS syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
|
0.510 |
strong |
1.000 |
1 |
|
2018 |
2018 |
COACH syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
38
|
0.740 |
None |
1.000 |
12 |
26
|
1977 |
2017 |
Renal hepatic pancreatic dysplasia Dandy Walker cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
4
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Tubular basement membrane disintegration
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Enlarged fossa interpeduncularis
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Thickened superior cerebellar peduncle
|
disease |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Kidney damage
|
phenotype |
|
Finding
|
5
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
Multiple small medullary renal cysts
|
disease |
|
Disease or Syndrome
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Johanson-Blizzard syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
7
|
9
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Elongated superior cerebellar peduncle
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Renal corticomedullary cysts
|
disease |
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Intrahepatic biliary atresia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Breathing dysregulation
|
phenotype |
|
Finding
|
12
|
8
|
0.100 |
None |
|
0 |
|
|
|
Peritonitis
|
disease |
Digestive System Diseases; Infections
|
Pathologic Function
|
15
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Tubular atrophy
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of abdomen morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Tubular Atrophy Assessment
|
phenotype |
|
Diagnostic Procedure
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Barrel chest
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
18
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Hearing Loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
18
|
61
|
0.100 |
None |
|
0 |
1
|
|
|