Short rib-polydactyly syndrome, Verma-Naumoff type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
2
|
0.500 |
None |
1.000 |
3 |
|
2011 |
2012 |
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2011 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.320 |
None |
1.000 |
2 |
|
2018 |
2019 |
Bare lymphocyte syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
27
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Skin callus
|
disease |
Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
154
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Respiratory Depression
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
24
|
5
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.500 |
None |
1.000 |
1 |
|
2007 |
2007 |
Oral Ulcer
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
104
|
101
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Thoracic Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Saldino-Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
108
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Asphyxiating thoracic dysplasia [Jeune]
|
disease |
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Short rib dysplasia
|
disease |
Musculoskeletal Diseases; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Short rib-polydactyly syndrome, Beemer type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
8
|
0.400 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.400 |
None |
1.000 |
1 |
|
2007 |
2007 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |