ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Brachydactyly with hypertension
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Albright's hereditary osteodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
6
|
0.500 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Pseudohypoparathyroidism, Type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
20
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Sudden sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
72
|
38
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Cardioembolism (high-risk/medium-risk)
|
disease |
|
Disease or Syndrome
|
16
|
4
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Large-artery atherosclerosis (embolus/thrombosis)
|
disease |
|
Disease or Syndrome
|
48
|
35
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hypocalcemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
94
|
13
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
|
|
|
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Hyperphosphatemia (disorder)
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
65
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thrombosis of cerebral veins
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
11
|
0.100 |
None |
|
0 |
|
|
|
Somatotropin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
154
|
14
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.100 |
None |
|
0 |
|
|
|
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.100 |
None |
|
0 |
|
|
|
Peripheral dysostosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Age at menarche
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
267
|
591
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
0.100 |
None |
|
0 |
|
|
|
Intracranial Hypertension
|
disease |
Nervous System Diseases
|
Finding
|
72
|
1
|
0.100 |
None |
|
0 |
|
|
|