WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
3 |
2
|
2015 |
2018 |
Wooly hair
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
19
|
|
0.400 |
None |
1.000 |
1 |
|
2015 |
2015 |
Woolly Hair, Autosomal Recessive
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
2
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Woolly hair, congenital
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
2
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
HYPOTRICHOSIS 8
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Sparse lateral eyebrow
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse scalp hair
|
phenotype |
|
Finding
|
85
|
7
|
0.100 |
None |
|
0 |
|
|
|
Sparse body hair
|
phenotype |
|
Finding
|
57
|
|
0.100 |
None |
|
0 |
|
|
|
Slow-growing hair
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Curly hair (finding)
|
phenotype |
|
Finding
|
24
|
7
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Fine hair
|
phenotype |
|
Finding
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Brittle hair
|
disease |
|
Disease or Syndrome
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clastothrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Pupillary abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Abnormal retinal morphology
|
phenotype |
Eye Diseases
|
Finding
|
13
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hypopigmentation of hair
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Acute periodontitis
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
130
|
49
|
0.010 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Dysplastic Nevus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
104
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aggressive Periodontitis
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
184
|
59
|
0.010 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Congenital hypotrichia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
19
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |