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 |
|
2019 |
2019 |
Hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
69
|
4
|
0.100 |
None |
1.000 |
15 |
1
|
2004 |
2019 |
Hypohidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.460 |
None |
1.000 |
6 |
|
2005 |
2016 |
Tracheoesophageal Fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases
|
Anatomical Abnormality
|
80
|
|
0.100 |
None |
|
0 |
|
|
|
Growth failure
|
phenotype |
|
Disease or Syndrome
|
84
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.300 |
None |
1.000 |
3 |
|
2007 |
2014 |
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
89
|
6
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2007 |
Meningomyelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
89
|
27
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypoparathyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
92
|
15
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2018 |
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2009 |
Sex Differentiation Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
103
|
10
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellum
|
phenotype |
|
Finding
|
116
|
5
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypotension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Small testicle
|
phenotype |
|
Finding
|
129
|
|
0.100 |
None |
|
0 |
|
|
|
Infertility
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
130
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.040 |
None |
1.000 |
4 |
|
1993 |
2018 |
Pituitary Diseases
|
group |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
153
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Somatotropin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
154
|
14
|
0.150 |
None |
1.000 |
5 |
|
2002 |
2015 |