Arthrogryposis, renal dysfunction, and cholestasis 1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
Disease or Syndrome
16
13
1.000
None
1.000
26
13
2004
2019
Arthrogryposis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
198
33
0.460
strong
1.000
7
2004
2019
Vacuolar myopathy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
16
1
0.300
limited
1.000
1
2006
2006
×
CUI:
C1968949
Disease:
Cakut
Cakut
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
72
8
0.300
strong
1.000
1
2009
2009
Ichthyoses
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Disease or Syndrome
194
18
0.140
None
1.000
4
1
2006
2018
Arthrogryposis with renal dysfunction and cholestasis syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
12
0.100
None
1.000
16
2004
2019
AIDS related complex
disease
Infections; Immune System Diseases
Disease or Syndrome
100
43
0.100
None
1.000
10
2004
2019
Multiple congenital anomalies
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
251
350
0.100
None
1.000
5
2
2004
2015
Diabetes Mellitus, Non-Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
3134
2672
0.100
None
1.000
2
1
2012
2014
Sloping forehead
phenotype
Finding
149
5
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
Conjugated hyperbilirubinemia
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
32
1
0.100
None
0
Talipes Calcaneovalgus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Anatomical Abnormality
9
0.100
None
0
Right Ventricular Hypertrophy
disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
160
6
0.100
None
0
Metabolic acidosis
phenotype
Nutritional and Metabolic Diseases
Pathologic Function
85
0.100
None
0
Low set ears
disease
Congenital Abnormality
489
64
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Cholestatic liver disease
disease
Digestive System Diseases
Disease or Syndrome
58
0.100
None
0
Death in infancy
phenotype
Finding
146
7
0.100
None
0
Hip Dysplasia
disease
Musculoskeletal Diseases; Wounds and Injuries
Anatomical Abnormality
128
16
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Elevated hepatic transaminase
phenotype
Finding
212
9
0.100
None
0
Neonatal hepatitis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections
Disease or Syndrome
21
2
0.100
None
0
Atrial Septal Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
384
96
0.100
None
0
Ventricular Septal Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
426
87
0.100
None
0