OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.720 |
None |
1.000 |
3 |
9
|
2016 |
2020 |
Feline Oral Squamous Cell Carcinoma
|
disease |
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Sleep Onset Latency
|
phenotype |
|
Finding
|
5
|
9
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Classical Glioblastoma
|
disease |
|
Neoplastic Process
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Meningoencephalitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
30
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fetal hemoglobin determination
|
phenotype |
|
Laboratory Procedure
|
40
|
220
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Mandibulofacial Dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
42
|
30
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
69
|
82
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Marinesco-Sjogren syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
133
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Highly arched eyebrow
|
phenotype |
|
Finding
|
141
|
14
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly
|
disease |
|
Congenital Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
160
|
7
|
0.100 |
None |
|
0 |
|
|
|
Adult Solid Neoplasm
|
group |
|
Neoplastic Process
|
163
|
3
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Childhood Solid Neoplasm
|
phenotype |
|
Neoplastic Process
|
169
|
3
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Mammary Neoplasms, Experimental
|
phenotype |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
218
|
|
0.200 |
None |
1.000 |
1 |
|
2001 |
2001 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Anoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
287
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Skin Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
363
|
9
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|