Cohen syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
10
|
292
|
0.800 |
None |
1.000 |
57 |
292
|
1994 |
2020 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
12 |
3
|
1998 |
2015 |
Chediak-Higashi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
41
|
14
|
0.050 |
None |
1.000 |
5 |
2
|
1997 |
2017 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.130 |
None |
0.667 |
3 |
|
2010 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2016 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.130 |
None |
0.667 |
3 |
|
2010 |
2016 |
Onychomycosis
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
27
|
2
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Anhidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
2
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lymphohistiocytosis, Hemophagocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
117
|
13
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
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 |
|
2011 |
2011 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.410 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Oligospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
217
|
72
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.010 |
None |
1.000 |
1 |
3
|
2015 |
2015 |
Small cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
972
|
125
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Laryngomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
67
|
18
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |