Intrahepatic biliary atresia
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Disease or Syndrome
9
0.010
None
1.000
1
2005
2005
Talipes Calcaneovalgus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Anatomical Abnormality
9
0.100
None
0
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
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
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
Neonatal hepatitis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections
Disease or Syndrome
21
2
0.100
None
0
Keratoderma
disease
Skin and Connective Tissue Diseases
Congenital Abnormality
24
2
0.020
None
1.000
2
1
2017
2018
Conjugated hyperbilirubinemia
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
32
1
0.100
None
0
Skin Manifestations
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
50
5
0.010
None
1.000
1
2018
2018
Renal tubular acidosis
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
52
3
0.100
None
0
Intrahepatic Cholestasis
disease
Digestive System Diseases
Disease or Syndrome
54
3
0.010
None
1.000
1
2009
2009
Cholestatic liver disease
disease
Digestive System Diseases
Disease or Syndrome
58
0.100
None
0
×
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
Congenital ichthyosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Disease or Syndrome
80
11
0.040
None
1.000
4
1
2006
2018
Metabolic acidosis
phenotype
Nutritional and Metabolic Diseases
Pathologic Function
85
0.100
None
0
AIDS related complex
disease
Infections; Immune System Diseases
Disease or Syndrome
100
43
0.100
None
1.000
10
2004
2019
Nephrocalcinosis
disease
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
118
20
0.100
None
0
Hip Dysplasia
disease
Musculoskeletal Diseases; Wounds and Injuries
Anatomical Abnormality
128
16
0.100
None
0
Death in infancy
phenotype
Finding
146
7
0.100
None
0
Sloping forehead
phenotype
Finding
149
5
0.100
None
0
Right Ventricular Hypertrophy
disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
160
6
0.100
None
0
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
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
198
33
0.460
strong
1.000
7
2004
2019
Elevated hepatic transaminase
phenotype
Finding
212
9
0.100
None
0
Icterus
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
241
17
0.100
None
0