Rhizomelic chondrodysplasia punctata, type 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
4
|
0.900 |
strong |
1.000 |
7 |
4
|
1998 |
2016 |
Dermatitis, Photoallergic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
limited |
|
0 |
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
25
|
0.300 |
limited |
|
0 |
|
|
|
Sarcoma, Experimental
|
disease |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
7
|
|
0.200 |
None |
1.000 |
1 |
|
1980 |
1980 |
Chondrodysplasia Punctata, Rhizomelic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
1
|
0.330 |
definitive |
1.000 |
13 |
|
1982 |
2014 |
Chondrodysplasia Punctata
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
1
|
0.200 |
None |
1.000 |
2 |
|
2006 |
2011 |
Congenital hypoplasia of femur
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short humerus
|
phenotype |
|
Congenital Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Stippled epiphyses
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Zellweger Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Rhizomelia
|
disease |
|
Congenital Abnormality
|
57
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypogammaglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
76
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neurobehavioral Manifestations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
77
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Liver Neoplasms, Experimental
|
phenotype |
Digestive System Diseases; Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
152
|
|
0.200 |
None |
1.000 |
1 |
|
1980 |
1980 |
Alzheimer Disease, Early Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
174
|
96
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Lymphopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
239
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Alzheimer Disease, Late Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
385
|
243
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mild cognitive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
430
|
96
|
0.100 |
None |
1.000 |
14 |
|
2013 |
2019 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2017 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.040 |
None |
1.000 |
4 |
|
2013 |
2019 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.040 |
None |
1.000 |
4 |
|
2013 |
2019 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|