Abnormal cochlea morphology
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal protein O-linked glycosylation
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the middle phalanges of the hand
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Apraxia of Phonation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
30
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Apraxias
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
71
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Bilateral talipes equinovarus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
16
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Birth length less than 3rd percentile
|
phenotype |
|
Finding
|
21
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
CATARACT 5, MULTIPLE TYPES
|
disease |
|
Disease or Syndrome
|
3
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Cervical spinal canal stenosis
|
phenotype |
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Coarse hair
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Condition, Preneoplastic
|
disease |
Neoplasms
|
Neoplastic Process
|
122
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cone Dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
48
|
31
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2002 |
Cone-shaped epiphyses of the phalanges of the hand
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital bilateral ptosis
|
disease |
|
Congenital Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.100 |
None |
|
0 |
1
|
|
|