Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.100 |
None |
1.000 |
12 |
|
2008 |
2019 |
Infant, Very Low Birth Weight
|
disease |
|
Disease or Syndrome
|
26
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
|
disease |
|
Disease or Syndrome
|
593
|
24
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Respiratory Distress Syndrome
|
disease |
|
Disease or Syndrome
|
58
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Histiocytosis haematophagic
|
disease |
|
Disease or Syndrome
|
36
|
2
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Silver-gray hair
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced delayed hypersensitivity
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Accumulation of melanosomes in melanocytes
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Melanin pigment aggregation in hair shafts
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Death in childhood
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypopigmentation of hair
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Large clumps of pigment irregularly distributed along hair shaft
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Choroideremia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
41
|
15
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2013 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cystinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
32
|
27
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
54
|
6
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2011 |
Albinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
46
|
27
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
9
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Piebaldism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
33
|
18
|
0.100 |
None |
|
0 |
|
|
|
GRISCELLI SYNDROME, TYPE 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
11
|
0.800 |
None |
1.000 |
28 |
11
|
2000 |
2019 |