CULLER-JONES SYNDROME
|
disease |
|
Disease or Syndrome
|
2
|
11
|
0.710 |
None |
1.000 |
8 |
10
|
2003 |
2019 |
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.700 |
strong |
1.000 |
17 |
|
2003 |
2019 |
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
12
|
0.700 |
None |
1.000 |
4 |
12
|
2003 |
2015 |
Lobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
37
|
2
|
0.510 |
None |
1.000 |
2 |
|
2006 |
2016 |
Alobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
16
|
|
0.500 |
None |
1.000 |
1 |
|
2016 |
2016 |
Semilobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
17
|
5
|
0.500 |
None |
1.000 |
1 |
|
2016 |
2016 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.430 |
strong |
1.000 |
4 |
|
2003 |
2019 |
Carcinoma, Basal Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
557
|
91
|
0.400 |
None |
1.000 |
17 |
|
2000 |
2019 |
Skin Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
363
|
9
|
0.320 |
None |
1.000 |
3 |
|
2000 |
2003 |
Alcoholic Intoxication, Chronic
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
577
|
441
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2019 |
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Gastrointestinal Stromal Tumors
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
538
|
154
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Pigmented Basal Cell Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Arhinencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Acute Promyelocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
651
|
21
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Basal Cell Nevus Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Neoplastic Process
|
74
|
124
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Facial Dysmorphism with Multiple Malformations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Pituitary Hormone Deficiency, Combined, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
24
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Gastrointestinal Stromal Sarcoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
74
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
69
|
4
|
0.200 |
None |
1.000 |
10 |
|
2003 |
2019 |
Esophageal atresia with or without tracheoesophageal fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
19
|
12
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.160 |
None |
1.000 |
6 |
|
2010 |
2019 |
Pituitary dwarfism
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
41
|
12
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2017 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2015 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |