Hoarseness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.100 |
None |
|
0 |
|
|
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
disease |
|
Disease or Syndrome
|
77
|
1
|
0.100 |
None |
|
0 |
|
|
|
Oral mucosal blisters
|
phenotype |
|
Sign or Symptom
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
Laryngospasm
|
disease |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Scarring alopecia of scalp
|
phenotype |
|
Finding
|
13
|
3
|
0.100 |
None |
|
0 |
|
|
|
Laryngostenosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Mitten deformity
|
phenotype |
|
Congenital Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Skin Erosion
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
225
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital localized absence of skin
|
disease |
|
Congenital Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Fragile nails
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
27
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sparse body hair
|
phenotype |
|
Finding
|
57
|
|
0.100 |
None |
|
0 |
|
|
|
Plantar hyperkeratosis
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Dental Enamel Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
72
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dental caries
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
330
|
126
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Palmar hyperhidrosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.100 |
None |
|
0 |
|
|
|
Recurrent skin infections
|
phenotype |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dehydration
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
295
|
6
|
0.100 |
None |
|
0 |
|
|
|