Anemia, normochromic macrocytic
|
disease |
|
Disease or Syndrome
|
1
|
|
0.030 |
None |
1.000 |
3 |
|
2000 |
2019 |
Mild radial hypoplasia
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
2 |
|
1991 |
2004 |
Bifid thoracic vertebrae
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic sacral vertebrae
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Aase syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
1985 |
1991 |
Ankle stiff
|
phenotype |
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Posterior column ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hypoplastic coccygeal vertebrae
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased erythroid precursor production
|
disease |
|
Disease or Syndrome
|
3
|
|
0.070 |
None |
0.857 |
7 |
|
1999 |
2019 |
Congenital erythroid hypoplasia
|
disease |
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ductal plate malformation
|
disease |
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Elevated red cell adenosine deaminase activity
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Spondylometaphyseal dysplasia, Sedaghatian type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital hypoplastic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.170 |
None |
1.000 |
7 |
|
1997 |
2007 |
Behavioral syndrome associated with physiological disturbance and physical factors
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Anemia, Diamond-Blackfan, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Circling gait
|
phenotype |
|
Sign or Symptom
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Atrophic iris
|
disease |
Eye Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
arthritis symptoms
|
disease |
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Enthesopathy
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Disease or Syndrome
|
11
|
1
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Inherited bone marrow failure syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Diamond-Blackfan Anemia 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
13
|
0.690 |
None |
0.941 |
17 |
12
|
1985 |
2018 |
Klippel-Feil Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sudden unexplained death in epilepsy
|
disease |
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |