Rothmund-Thomson syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
35
|
12
|
1.000 |
definitive |
0.986 |
73 |
12
|
1999 |
2019 |
Baller-Gerold syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
54
|
0.770 |
None |
1.000 |
26 |
54
|
1999 |
2018 |
Rapadilino syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
14
|
0.750 |
None |
1.000 |
10 |
14
|
1999 |
2012 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.500 |
strong |
0.833 |
12 |
|
2003 |
2018 |
Combined immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
86
|
11
|
0.300 |
limited |
1.000 |
1 |
|
2006 |
2006 |
Poikiloderma
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
20
|
2
|
0.160 |
None |
0.667 |
6 |
|
2006 |
2015 |
Lymphoma
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1548
|
91
|
0.120 |
None |
1.000 |
2 |
|
2009 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital hypoplasia of radius
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
37
|
5
|
0.110 |
None |
1.000 |
1 |
|
2005 |
2005 |
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.110 |
None |
1.000 |
1 |
|
2005 |
2005 |
Malaria
|
disease |
Infections
|
Disease or Syndrome
|
685
|
148
|
0.100 |
None |
1.000 |
42 |
|
2003 |
2020 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.967 |
30 |
|
2000 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
0.967 |
30 |
|
2000 |
2019 |
Childhood Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2208
|
151
|
0.100 |
None |
0.818 |
11 |
|
2003 |
2018 |
Osteosarcoma of bone
|
disease |
Neoplasms
|
Neoplastic Process
|
2247
|
151
|
0.100 |
None |
0.818 |
11 |
|
2003 |
2018 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
5 |
2
|
2006 |
2015 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
5 |
2
|
2006 |
2015 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Absent finger
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
High grade surface osteosarcoma
|
disease |
|
Neoplastic Process
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Fistula of genitourinary tract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Mottled pigmentation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
High, narrow palate
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|