Autosomal recessive agammaglobulinemia
|
disease |
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
2
|
18
|
0.400 |
strong |
1.000 |
1 |
1
|
2002 |
2002 |
AGAMMAGLOBULINEMIA 1
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2002 |
2002 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the outer ear
|
disease |
|
Anatomical Abnormality
|
95
|
8
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
175
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent enteroviral infections
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
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 |
|
|
|
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.100 |
None |
|
0 |
|
|
|
Hepatitis
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
656
|
42
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption
|
phenotype |
Digestive System Diseases
|
Finding
|
175
|
3
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
239
|
|
0.100 |
None |
|
0 |
|
|
|
Conjunctivitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
82
|
1
|
0.100 |
None |
|
0 |
|
|
|
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.100 |
None |
|
0 |
|
|
|
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.100 |
None |
|
0 |
|
|
|
Agammaglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
43
|
1
|
0.600 |
strong |
1.000 |
1 |
|
2002 |
2002 |
Hypogammaglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
76
|
2
|
0.310 |
None |
1.000 |
1 |
|
2002 |
2002 |
Agammaglobulinemia, non-Bruton type
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
B lymphocytopenia
|
phenotype |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Multifocal motor neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|
Osteomyelitis
|
disease |
Infections; Musculoskeletal Diseases
|
Disease or Syndrome
|
121
|
14
|
0.100 |
None |
|
0 |
|
|
|