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
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
132
12
0.430
None
1.000
4
2013
2019
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
Carcinogenesis
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
6243
355
0.010
None
1.000
1
2006
2006
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.010
None
1.000
1
2006
2006
Hemoglobinuria, Paroxysmal
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
9
0.300
None
1.000
1
2015
2015
Phospholipid measurement
phenotype
Laboratory Procedure
58
306
0.100
None
1.000
1
1
2017
2017
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
Cold paroxysmal hemoglobinuria
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
2
0.300
None
1.000
1
2015
2015
Encephalopathies
group
Nervous System Diseases
Disease or Syndrome
457
64
0.010
None
1.000
1
3
2014
2014
Tumor Cell Invasion
phenotype
Neoplastic Process
6626
169
0.010
None
1.000
1
2006
2006
Dysmorphism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
80
16
0.010
None
1.000
1
2
2014
2014
Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
1215
339
0.010
None
1.000
1
2019
2019
Congenital Abnormality
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
1098
73
0.010
None
1.000
1
3
2014
2014
High density lipoprotein measurement
phenotype
Laboratory Procedure
545
1440
0.100
None
1.000
1
1
2017
2017
Malignant neoplasm of breast
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6941
3417
0.010
None
1.000
1
2006
2006
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.010
None
1.000
1
2018
2018
Somatic mutation
phenotype
Cell or Molecular Dysfunction
151
0.100
None
0
Recurrent meningitis
disease
Infections; Nervous System Diseases
Disease or Syndrome
6
2
0.100
None
0
2
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
Cerebellar atrophy
disease
Disease or Syndrome
321
67
0.100
None
0
Inversion of nipple (disorder)
disease
Skin and Connective Tissue Diseases
Anatomical Abnormality
27
7
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
Low set ears
disease
Congenital Abnormality
489
64
0.100
None
0
Stenosis of ureter
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Anatomical Abnormality
10
0.100
None
0