Pyelocystitis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Potassium retention
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Spondyloocular Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Aplasia/Hypoplasia of the lens
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Gronblad-Strandberg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Pseudoxanthoma Elasticum, Incomplete
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
6
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Peau d'orange surface of breast
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Sign or Symptom
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Accelerated atherosclerosis
|
phenotype |
Cardiovascular Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Desbuquois syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Shield chest
|
phenotype |
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Angioid Streaks
|
disease |
Eye Diseases
|
Disease or Syndrome
|
13
|
90
|
0.100 |
None |
|
0 |
|
|
|
Hyaline body
|
disease |
|
Anatomical Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Disease or Syndrome
|
16
|
86
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the antihelix
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm, Ruptured
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Disproportionate short-trunk short stature
|
phenotype |
|
Finding
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Thoracic kyphosis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Spondylo-ocular syndrome
|
disease |
|
Disease or Syndrome
|
24
|
5
|
0.450 |
None |
1.000 |
5 |
3
|
2015 |
2019 |
Long toe
|
phenotype |
|
Finding
|
24
|
8
|
0.100 |
None |
|
0 |
|
|
|
Compression fracture of vertebral column
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries
|
Pathologic Function
|
25
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Mouth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyebrow morphology
|
group |
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intervertebral disk
|
disease |
|
Anatomical Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|