Oral Manifestations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Sign or Symptom
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dandy Walker variant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Memory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
763
|
48
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Recurrent respiratory tract infections
|
disease |
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Pneumocystis jiroveci pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
180
|
5
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Polycystic Kidney - body part
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
54
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Polycystic Kidney, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
280
|
35
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Monoclonal Gammopathy of Undetermined Significance
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
227
|
20
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Multiple Myeloma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Neoplastic Process
|
1740
|
865
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Bardet-Biedl syndrome 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
9
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
X-linked retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
29
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Papillary craniopharyngioma
|
disease |
Neoplasms
|
Neoplastic Process
|
65
|
2
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2013 |
Cystic kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
89
|
1
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2018 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2013 |
Osteofibrous Dysplasia
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
|
0.040 |
None |
1.000 |
4 |
|
1998 |
2015 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.040 |
None |
1.000 |
4 |
|
1998 |
2013 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
14 |
1
|
2000 |
2016 |