Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.100 |
None |
|
0 |
|
|
|
Tubular atrophy
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Renal Cell Dysplasia
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
81
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital malrotation of intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
77
|
5
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Polydipsia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
61
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cone-shaped epiphysis
|
phenotype |
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Oligohydramnios
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Meckel syndrome type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
53
|
38
|
0.300 |
limited |
|
0 |
|
|
|
Potter's facies
|
disease |
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Accessory spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Bile duct proliferation
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Enlarged kidney
|
phenotype |
|
Finding
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Polysplenia
|
disease |
|
Congenital Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.300 |
strong |
|
0 |
|
|
|
Fibrosis of pancreas
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
72
|
|
0.100 |
None |
|
0 |
|
|
|