Opitz GBBB Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
79
|
24
|
0.900 |
definitive |
1.000 |
28 |
20
|
1997 |
2017 |
Opitz-G syndrome, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
4
|
0.300 |
None |
1.000 |
27 |
1
|
1998 |
2018 |
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 |
Penile hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
127
|
83
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2013 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2008 |
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 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.120 |
None |
1.000 |
2 |
|
2008 |
2016 |
Osteosarcoma of bone
|
disease |
Neoplasms
|
Neoplastic Process
|
2247
|
151
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2008 |
Childhood Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2208
|
151
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2008 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2008 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Infection by Cryptococcus neoformans
|
disease |
Infections
|
Disease or Syndrome
|
167
|
1
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Secondary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
1370
|
20
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ectrodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
36
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Early infantile epileptic encephalopathy with suppression bursts
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
10
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |