LIG4 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2
|
13
|
0.990 |
None |
1.000 |
20 |
13
|
2001 |
2016 |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
6
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Severe combined immunodeficiency with sensitivity to ionizing radiation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
3
|
10
|
0.310 |
strong |
1.000 |
2 |
|
2006 |
2018 |
DNA Ligase I Deficiency
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Structural Clinical Interview for DSM-III
|
phenotype |
|
Diagnostic Procedure
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Dubowitz syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
12
|
|
0.310 |
None |
1.000 |
2 |
|
2013 |
2014 |
Bird-like facies
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Atypical lymphocyte
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Large beaked nose
|
disease |
|
Anatomical Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Paraproteinemias
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
14
|
9
|
0.100 |
None |
|
0 |
|
|
|
Desquamation of skin soon after birth
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female external genitalia
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Propionic acidemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
17
|
124
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Abnormality of the antihelix
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse lateral eyebrow
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of blood and blood-forming tissues
|
disease |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
25
|
9
|
0.100 |
None |
1.000 |
2 |
2
|
2001 |
2014 |
Anal Stenosis, CTCAE
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Stricture of anus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of chromosome stability
|
phenotype |
|
Cell or Molecular Dysfunction
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Omenn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
35
|
48
|
0.300 |
None |
|
0 |
|
|
|
Smooth Muscle Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
36
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|