Keratosis pilaris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
30
|
4
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Anastomosis
|
disease |
|
Acquired Abnormality
|
155
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.060 |
None |
1.000 |
6 |
|
2005 |
2012 |
Cavernous Hemangioma of Brain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Anatomical Abnormality
|
127
|
43
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2019 |
Intestinal Polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
48
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Colon diverticulum anatomic structure
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of abdomen morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
31
|
|
0.500 |
definitive |
1.000 |
7 |
|
1993 |
2016 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2006 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cardiac diverticulum
|
disease |
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Lynch Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
103
|
65
|
0.700 |
definitive |
0.981 |
215 |
8
|
1993 |
2020 |
Turcot syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
77
|
75
|
0.800 |
definitive |
1.000 |
45 |
12
|
1994 |
2020 |
MOHR-TRANEBJAERG SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
89
|
19
|
0.100 |
None |
1.000 |
19 |
|
1996 |
2017 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.100 |
None |
1.000 |
15 |
|
1995 |
2019 |
Marinesco-Sjogren syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
133
|
8
|
0.100 |
None |
0.917 |
12 |
|
2000 |
2008 |
Constitutional Mismatch Repair Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
6
|
1
|
0.300 |
definitive |
1.000 |
10 |
|
1995 |
2009 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.060 |
None |
1.000 |
6 |
|
1995 |
2014 |
Endometrial Hyperplasia
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
143
|
6
|
0.060 |
None |
1.000 |
6 |
|
2000 |
2013 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.040 |
None |
0.750 |
4 |
|
1999 |
2011 |
Skin lesion
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
563
|
52
|
0.040 |
None |
1.000 |
4 |
|
1996 |
2016 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.220 |
None |
1.000 |
3 |
|
2007 |
2013 |