MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
11
|
0.710 |
None |
1.000 |
5 |
11
|
2013 |
2017 |
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.400 |
limited |
1.000 |
1 |
3
|
2013 |
2013 |
Cold paroxysmal hemoglobinuria
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Episodic hemolytic anemia
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Recurrent meningitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
6
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Hemoglobinuria, Paroxysmal
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Stenosis of ureter
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Dermatographic urticaria
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Stricture of ureter
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Hypophosphatasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
27
|
29
|
0.010 |
None |
1.000 |
1 |
3
|
2014 |
2014 |
Inversion of nipple (disorder)
|
disease |
Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
27
|
7
|
0.100 |
None |
|
0 |
|
|
|
Ankle clonus
|
phenotype |
|
Finding
|
32
|
5
|
0.100 |
None |
|
0 |
|
|
|
Restrictive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
41
|
30
|
0.100 |
None |
|
0 |
|
|
|
Deep philtrum
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Large for gestational age
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
43
|
10
|
0.100 |
None |
|
0 |
|
|
|
ULNAR HYPOPLASIA
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Phospholipid measurement
|
phenotype |
|
Laboratory Procedure
|
58
|
306
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypercalciuria
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
80
|
16
|
0.010 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Open mouth (finding)
|
phenotype |
|
Finding
|
96
|
11
|
0.100 |
None |
|
0 |
|
|
|
Simple renal cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
100
|
2
|
0.100 |
None |
|
0 |
|
|
|
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Nephrocalcinosis
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
118
|
20
|
0.100 |
None |
|
0 |
|
|
|
Esotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
39
|
0.100 |
None |
|
0 |
|
|
|