Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Anterior open bite
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Gingival Overgrowth
|
phenotype |
Stomatognathic Diseases
|
Finding
|
100
|
5
|
0.100 |
None |
|
0 |
|
|
|
Micronychia (disorder)
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Facial Hypertrichosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypertrichosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
6
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Severe sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
23
|
5
|
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
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.620 |
None |
1.000 |
3 |
1
|
2014 |
2019 |
Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
ANONYCHIA
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Absent fingernail
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Absent toenail
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Epilepsy, Generalized
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
93
|
36
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |