CEREBROOCULOFACIOSKELETAL SYNDROME 4
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
2 |
3
|
2007 |
2013 |
Early fontanel closure
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
CAMFAK syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
XFE Progeroid Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
3
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Pena Shokeir syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Thyroid Hormone Metabolism, Abnormal
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
4
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Tumor of Rete Testis
|
disease |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebrooculofacioskeletal Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
7
|
58
|
0.320 |
None |
1.000 |
2 |
1
|
2007 |
2015 |
Xeroderma pigmentosum, group F
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
8
|
31
|
0.100 |
None |
1.000 |
14 |
4
|
1993 |
2017 |
Flexion contracture of toe
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Locally Advanced Malignant Neoplasm
|
disease |
|
Neoplastic Process
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Non-small cell lung cancer stage IIIA
|
disease |
|
Neoplastic Process
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Nasopharyngeal cancer recurrent
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malignant tumor of extrahepatic bile duct
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neoplasms, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Metastatic Carcinoma to the Uterine Cervix
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cancer, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Autosome Abnormalities
|
group |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Chromosome Aberrations
|
group |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Testicular Diseases
|
group |
Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Stage IV Nasopharyngeal Carcinoma
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Advanced Head and Neck Squamous Cell Carcinoma
|
disease |
|
Neoplastic Process
|
17
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2015 |
stage, bladder cancer
|
phenotype |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Advanced Urothelial Carcinoma
|
disease |
|
Neoplastic Process
|
18
|
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2017 |
Tyrosinemia, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
56
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |