WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Woolly Hair, Autosomal Recessive
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
2
|
0.070 |
None |
1.000 |
7 |
|
2009 |
2018 |
Woolly hair, congenital
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hypotrichosis of the scalp
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
HYPOTRICHOSIS 8
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
8
|
0.610 |
strong |
1.000 |
4 |
7
|
2008 |
2014 |
Abnormal retinal morphology
|
phenotype |
Eye Diseases
|
Finding
|
13
|
8
|
0.100 |
None |
|
0 |
|
|
|
Blonde hair
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Hair Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2009 |
2009 |
Fair hair
|
phenotype |
|
Finding
|
17
|
5
|
0.100 |
None |
|
0 |
|
|
|
Pupillary abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypotrichia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
19
|
4
|
0.090 |
None |
1.000 |
9 |
|
2008 |
2019 |
Wooly hair
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
19
|
|
0.400 |
None |
1.000 |
1 |
|
2011 |
2011 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
9
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Sparse lateral eyebrow
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Hypopigmentation of hair
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Total Hypotrichosis, Mari type
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
27
|
4
|
0.100 |
None |
1.000 |
10 |
|
2007 |
2013 |
Slow-growing hair
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypotrichosis simplex
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
5
|
0.510 |
None |
1.000 |
3 |
|
2008 |
2009 |
Brittle hair
|
disease |
|
Disease or Syndrome
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lepidic Predominant Adenocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
46
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Comedone
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
53
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse body hair
|
phenotype |
|
Finding
|
57
|
|
0.100 |
None |
|
0 |
|
|
|
Coarse hair
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Sparse and thin eyebrow
|
phenotype |
|
Finding
|
68
|
8
|
0.100 |
None |
|
0 |
|
|
|