BARDET-BIEDL SYNDROME 11
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Mulibrey Nanism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
13
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Chromosome 15q, trisomy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hereditary Renal Cell Carcinoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Episodic ataxia type 2 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
60
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Opitz-G syndrome, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
GLOMUVENOUS MALFORMATIONS
|
disease |
Neoplasms
|
Disease or Syndrome
|
13
|
3
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Spongiform encephalopathy
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
14
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Polio and Post-Polio Syndrome
|
disease |
Infections
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Chuvash erythrocytosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
17
|
2
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2011 |
Liddle Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
19
|
6
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
19
|
7
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Popliteal pterygium syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
20
|
17
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dental White Spot
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperkalemic Mineralocorticoid Resistance
|
disease |
|
Disease or Syndrome
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Sendai virus infection
|
disease |
Infections
|
Disease or Syndrome
|
25
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pseudohypoaldosteronism, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
27
|
42
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
CLL progression
|
disease |
|
Neoplastic Process
|
28
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital central hypoventilation
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
15
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Saethre-Chotzen Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
33
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Other Creutzfeldt-Jakob disease
|
disease |
Infections; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
37
|
18
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Left ventricular noncompaction cardiomyopathy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
39
|
28
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Parkinsonism, Juvenile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Perihilar Cholangiocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
41
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |