Abnormal blistering of the skin
|
phenotype |
|
Finding
|
75
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormal chorioretinal morphology
|
disease |
|
Anatomical Abnormality
|
36
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal hand morphology
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
Absence of hand
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Accessory rib
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Acquired deformity of finger
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Acute Promyelocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
651
|
21
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Adult Liver Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1377
|
72
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aicardi's syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.100 |
None |
|
0 |
|
|
|
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
54
|
0.100 |
None |
1.000 |
5 |
2
|
1999 |
2018 |
Anhidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
2
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2016 |
Anhydrotic Ectodermal Dysplasias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
29
|
2
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2018 |
Asymmetric growth
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Atrophic, patchy alopecia
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections
|
Disease or Syndrome
|
2
|
2
|
0.700 |
None |
1.000 |
4 |
2
|
2000 |
2010 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Autoinflammatory disease
|
disease |
|
Disease or Syndrome
|
81
|
10
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Bacterial Infections
|
group |
Infections
|
Disease or Syndrome
|
616
|
17
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2019 |