Encephalopathies
group
Nervous System Diseases
Disease or Syndrome
457
64
0.010
None
1.000
1
3
2014
2014
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
Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
1215
339
0.010
None
1.000
1
2019
2019
Malignant neoplasm of breast
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6941
3417
0.010
None
1.000
1
2006
2006
Carcinogenesis
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
6243
355
0.010
None
1.000
1
2006
2006
Tumor Cell Invasion
phenotype
Neoplastic Process
6626
169
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
Dysmorphism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
80
16
0.010
None
1.000
1
2
2014
2014
Congenital Abnormality
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
1098
73
0.010
None
1.000
1
3
2014
2014
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.010
None
1.000
1
2006
2006
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
High density lipoprotein measurement
phenotype
Laboratory Procedure
545
1440
0.100
None
1.000
1
1
2017
2017
Phospholipid measurement
phenotype
Laboratory Procedure
58
306
0.100
None
1.000
1
1
2017
2017
Recurrent meningitis
disease
Infections; Nervous System Diseases
Disease or Syndrome
6
2
0.100
None
0
2
Cerebellar atrophy
disease
Disease or Syndrome
321
67
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
1
Somatic mutation
phenotype
Cell or Molecular Dysfunction
151
0.100
None
0
Delayed bone age
phenotype
Finding
295
14
0.100
None
0
Stenosis of ureter
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Anatomical Abnormality
10
0.100
None
0
Low set ears
disease
Congenital Abnormality
489
64
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
Inversion of nipple (disorder)
disease
Skin and Connective Tissue Diseases
Anatomical Abnormality
27
7
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
Cerebellar Hypoplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
Congenital Abnormality
226
26
0.100
None
0
Abnormality of the dentition
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Finding
140
16
0.100
None
0