Antley-Bixler Syndrome with Disordered Steroidogenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
10
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
AMYOTROPHY, HEREDITARY NEURALGIC
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
8
|
0.020 |
None |
1.000 |
2 |
|
1999 |
1999 |
Primary congenital glaucoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
25
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Intrinsic asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
29
|
5
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hereditary Multiple Exostoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Congenital Abnormality
|
32
|
51
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Triploidy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
42
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
24
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Posterior subcapsular cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
67
|
9
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Usher Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
68
|
74
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Autosomal Recessive Polycystic Kidney Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
69
|
317
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
myeloblastosis
|
disease |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
72
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Fleck corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dyslexia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
118
|
30
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Embryonal Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
121
|
8
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Chordoma
|
disease |
Neoplasms
|
Neoplastic Process
|
140
|
3
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hemophilia A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
143
|
295
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2003 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Alzheimer Disease, Early Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
174
|
96
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Pneumocystis jiroveci pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
180
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
194
|
11
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Anorexia Nervosa
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
202
|
72
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |