Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
limited |
1.000 |
1 |
|
2004 |
2004 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.400 |
moderate |
1.000 |
6 |
1
|
1999 |
2015 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.320 |
strong |
1.000 |
3 |
1
|
1998 |
2012 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.420 |
strong |
1.000 |
2 |
|
2003 |
2010 |
Otospondylomegaepiphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
5
|
1.000 |
definitive |
1.000 |
23 |
4
|
1964 |
2015 |
Pierre Robin syndrome with fetal chondrodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
3
|
1
|
0.820 |
definitive |
1.000 |
18 |
1
|
1964 |
2015 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.982 |
114 |
|
1997 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.973 |
111 |
3
|
1999 |
2020 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
0.989 |
91 |
|
1997 |
2020 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.100 |
None |
1.000 |
69 |
2
|
1997 |
2020 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.100 |
None |
1.000 |
66 |
|
2009 |
2020 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.100 |
None |
0.984 |
64 |
|
2008 |
2020 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
0.984 |
63 |
2
|
1996 |
2020 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.100 |
None |
1.000 |
47 |
|
2013 |
2020 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.100 |
None |
1.000 |
35 |
|
2003 |
2019 |
Triple Negative Breast Neoplasms
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1674
|
99
|
0.100 |
None |
0.967 |
30 |
|
2010 |
2019 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.100 |
None |
1.000 |
30 |
|
2003 |
2019 |
Triple-Negative Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1598
|
96
|
0.100 |
None |
1.000 |
27 |
|
2010 |
2019 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.100 |
None |
1.000 |
18 |
|
2014 |
2019 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.100 |
None |
1.000 |
17 |
|
2014 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
17 |
1
|
1975 |
2012 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
17 |
1
|
1975 |
2012 |
Epithelial ovarian cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
1224
|
129
|
0.100 |
None |
1.000 |
16 |
|
2009 |
2020 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.100 |
None |
1.000 |
15 |
1
|
2011 |
2020 |