Tooth Attrition
|
disease |
Stomatognathic Diseases
|
Acquired Abnormality
|
66
|
5
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Tracheoesophageal Fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases
|
Anatomical Abnormality
|
80
|
|
0.100 |
None |
|
0 |
|
|
|
Pterygium of nail
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyebrow morphology
|
group |
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rough bone trabeculation
|
disease |
|
Anatomical Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Excessive wrinkled skin
|
phenotype |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pharynx
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female internal genitalia
|
disease |
|
Anatomical Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
32
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.110 |
None |
1.000 |
1 |
|
1999 |
1999 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.100 |
None |
|
0 |
|
|
|
Horseshoe Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
51
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.900 |
strong |
0.969 |
64 |
36
|
1998 |
2019 |
X-Linked Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
17
|
33
|
0.800 |
None |
1.000 |
45 |
33
|
1998 |
2019 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.150 |
None |
1.000 |
5 |
2
|
1999 |
2018 |
HOYERAAL-HREIDARSSON SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
16
|
1
|
0.550 |
None |
1.000 |
5 |
|
1999 |
2016 |
Aplastic Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
238
|
30
|
0.020 |
None |
1.000 |
2 |
|
1999 |
1999 |