Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Short middle phalanx of the 5th finger
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Short hard palate
|
disease |
|
Anatomical Abnormality
|
7
|
4
|
0.100 |
None |
|
0 |
|
|
|
Secondary Neoplasm
|
group |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
2492
|
85
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.400 |
strong |
1.000 |
2 |
5
|
2016 |
2018 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
|
disease |
|
Disease or Syndrome
|
3
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
11
|
0.100 |
None |
1.000 |
1 |
5
|
2016 |
2016 |
Robinow Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
|
0.320 |
None |
1.000 |
2 |
|
2016 |
2018 |
Robinow Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
20
|
3
|
0.540 |
None |
1.000 |
4 |
|
2016 |
2018 |
Ridged fingernail
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
|
|
|
Radial deviation of finger
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Progressive Neoplastic Disease
|
phenotype |
|
Neoplastic Process
|
384
|
40
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Progressive cGVHD
|
disease |
|
Disease or Syndrome
|
384
|
40
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Port-Wine Stain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
46
|
10
|
0.100 |
None |
|
0 |
|
|
|
Pneumocystis jiroveci pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
180
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|