Abnormal eyebrow morphology
|
group |
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyelash morphology
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Aortic coarctation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
88
|
6
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Brittle hair
|
disease |
|
Disease or Syndrome
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Complete right bundle branch block
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital hypotrichia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
19
|
4
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2015 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Erythema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
227
|
8
|
0.100 |
None |
|
0 |
|
|
|
Fine hair
|
phenotype |
|
Finding
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hair Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
9
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
2
|
0.350 |
None |
1.000 |
6 |
|
2003 |
2015 |
HYPOTRICHOSIS 6
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
7
|
0.800 |
strong |
1.000 |
3 |
7
|
1996 |
2004 |
Hypotrichosis of the scalp
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypotrichosis simplex
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
5
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Monilethrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
5
|
12
|
0.350 |
None |
1.000 |
5 |
1
|
2006 |
2015 |
Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
85
|
187
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |