Aberrant melanosome maturation
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Acute Megakaryocytic Leukemias
|
disease |
Neoplasms
|
Neoplastic Process
|
159
|
15
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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
|
0.140 |
None |
1.000 |
4 |
|
2002 |
2016 |
Albinism, Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
37
|
10
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.080 |
None |
1.000 |
8 |
|
2006 |
2020 |
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
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Alveolitis
|
disease |
Skin and Connective Tissue Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
63
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Bartter Disease
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
47
|
8
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Bartter syndrome, type 3
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
10
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Benign Prostatic Hyperplasia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
770
|
91
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blonde hair
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chediak-Higashi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
41
|
14
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2013 |
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2017 |
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
CONSTRICTING BANDS, CONGENITAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
16
|
1
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2003 |
Dental caries
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
330
|
126
|
0.100 |
None |
|
0 |
|
|
|
End Stage Liver Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
80
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fair hair
|
phenotype |
|
Finding
|
17
|
5
|
0.100 |
None |
|
0 |
|
|
|