X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Eosinophilic esophagitis
|
disease |
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
183
|
40
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Tauopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
245
|
43
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.200 |
None |
|
0 |
|
|
|
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2018 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2002 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.140 |
None |
1.000 |
4 |
|
2003 |
2013 |
Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Hormone refractory prostate cancer
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
683
|
29
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |