Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
2
|
32
|
0.800 |
None |
1.000 |
15 |
32
|
2004 |
2019 |
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
3
|
0.550 |
strong |
1.000 |
6 |
|
2008 |
2011 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.400 |
None |
|
0 |
|
|
|
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.360 |
None |
0.500 |
6 |
3
|
2008 |
2019 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.320 |
None |
1.000 |
3 |
|
2008 |
2009 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.320 |
None |
1.000 |
2 |
3
|
2009 |
2010 |
Unipolar Depression
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
641
|
225
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2010 |
Nonorganic psychosis
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
376
|
98
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Seckel syndrome 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
8
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
SECKEL SYNDROME 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Moyamoya Disease
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
117
|
50
|
0.300 |
moderate |
1.000 |
1 |
|
2004 |
2004 |
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
366
|
47
|
0.300 |
strong |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.120 |
None |
1.000 |
2 |
|
2008 |
2010 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2014 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.110 |
None |
1.000 |
2 |
1
|
2003 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
7 |
2
|
2009 |
2014 |
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
149
|
527
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Viral Load result
|
phenotype |
|
Finding
|
65
|
91
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
AIDS, PROGRESSION TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
HIV-1, RESISTANCE TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Narrow pelvis bone
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|