HERMANSKY-PUDLAK SYNDROME 4
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
HERMANSKY-PUDLAK SYNDROME 3
|
disease |
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Freckles in sun-exposed areas
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Usher syndrome, type 1B
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
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
|
0.940 |
definitive |
1.000 |
33 |
8
|
1978 |
2018 |
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 |
Restrictive lung disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Hypopigmentation-immunodeficiency disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
14
|
3
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
USHER SYNDROME, TYPE IB (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
11
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
CONSTRICTING BANDS, CONGENITAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
16
|
1
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2003 |
Urinary Bladder, Underactive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
20
|
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Platelet Storage Pool Deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
1
|
0.210 |
None |
1.000 |
13 |
|
1978 |
2008 |
Hemophagocytic Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
3
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
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
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2019 |
Hematochezia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
37
|
12
|
0.100 |
None |
|
0 |
|
|
|
Prolonged bleeding time
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Freckles
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
45
|
10
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2016 |
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 |
Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
47
|
|
0.300 |
strong |
1.000 |
1 |
|
1998 |
1998 |
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
|
0.400 |
strong |
0.909 |
11 |
4
|
1998 |
2019 |
Gingival Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Pathologic Function
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
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 |
Restrictive ventilatory defect
|
phenotype |
|
Finding
|
61
|
8
|
0.100 |
None |
|
0 |
|
|
|