Congenital dyserythropoietic anemia, type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
21
|
14
|
0.800 |
None |
0.960 |
25 |
13
|
1989 |
2019 |
COWDEN SYNDROME 7
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
7 |
3
|
2009 |
2015 |
Congenital dyserythropoietic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
13
|
0.580 |
strong |
1.000 |
9 |
2
|
1982 |
2018 |
Hamartoma Syndrome, Multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
270
|
139
|
0.320 |
None |
1.000 |
2 |
|
2015 |
2016 |
Congenital dyserythropoietic anemia, type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital dyserythropoietic anemia, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
12
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
|
disease |
|
Disease or Syndrome
|
2
|
10
|
0.100 |
None |
1.000 |
4 |
1
|
2009 |
2011 |
Familial Mediterranean Fever
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
133
|
82
|
0.100 |
None |
1.000 |
3 |
1
|
2009 |
2014 |
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
|
disease |
|
Disease or Syndrome
|
2
|
10
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Skin Papule
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
|
|
|
Intestinal Polyposis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
49
|
3
|
0.100 |
None |
|
0 |
|
|
|
Polyp of large intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
99
|
32
|
0.100 |
None |
|
0 |
|
|
|
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
|
0 |
|
|
|
Anemia of inadequate production
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hashimoto Disease
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
335
|
131
|
0.100 |
None |
|
0 |
|
|
|
Papillary thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1348
|
204
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Trichilemmoma
|
disease |
Neoplasms
|
Neoplastic Process
|
8
|
4
|
0.100 |
None |
|
0 |
|
|
|
Macule
|
phenotype |
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Papule
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
76
|
131
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|