Abnormalities of placenta or umbilical cord
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
TRICHOHEPATOENTERIC SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
11
|
0.600 |
strong |
1.000 |
3 |
10
|
2010 |
2017 |
Dependency on intravenous nutrition
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Galactosuria
|
phenotype |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Large placenta
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Uncombable hair
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Renal cortical microcysts
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of iron homeostasis
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clastothrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Serum iron raised
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Increased mean platelet volume
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Intractable diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
13
|
3
|
0.120 |
None |
1.000 |
2 |
|
2012 |
2016 |
Abnormality of the pancreas
|
disease |
|
Anatomical Abnormality
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hemorrhagic diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.100 |
None |
|
0 |
|
|
|
Villous atrophy of intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Wooly hair
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Villous atrophy
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Panhypogammaglobulinemia
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Peripheral pulmonary artery stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypopigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypopigmentation of hair
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Curly hair (finding)
|
phenotype |
|
Finding
|
24
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the immune system
|
disease |
|
Pathologic Function
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|