Omenn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
35
|
48
|
0.300 |
None |
|
0 |
|
|
|
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Paraproteinemias
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
14
|
9
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1032
|
33
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Pruritus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
107
|
2
|
0.100 |
None |
|
0 |
|
|
|
Rectal Prolapse
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
46
|
1
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Short foot
|
phenotype |
|
Finding
|
116
|
|
0.100 |
None |
|
0 |
|
|
|
Short toe
|
phenotype |
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
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 |
|
|
|
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|