MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
4
|
0.100 |
None |
|
0 |
4
|
|
|
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
21
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
|
disease |
|
Neoplastic Process
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Short neck
|
phenotype |
|
Finding
|
26
|
29
|
0.100 |
None |
|
0 |
1
|
|
|
GIANT PIGMENTED HAIRY NEVUS
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2
|
5
|
0.400 |
None |
|
0 |
3
|
|
|
COSTELLO SYNDROME, SEVERE
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
SPITZ NEVUS, SOMATIC
|
disease |
|
Neoplastic Process
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
NEVUS SPILUS, SOMATIC
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
27
|
141
|
0.500 |
None |
0.833 |
1 |
8
|
1987 |
2016 |
Papilloma
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
2
|
0.500 |
None |
0.909 |
9 |
1
|
1992 |
2017 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
37
|
211
|
0.500 |
None |
0.923 |
1 |
9
|
1990 |
2016 |
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
16
|
1.000 |
definitive |
0.974 |
54 |
16
|
1982 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
26
|
98
|
0.200 |
None |
0.975 |
1 |
4
|
1983 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
350
|
0.100 |
None |
1.000 |
10 |
1
|
2002 |
2017 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
92
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Deep palmar crease
|
phenotype |
|
Finding
|
7
|
8
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
20
|
33
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Subglottic stenosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
38
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
468
|
0.120 |
None |
1.000 |
9 |
1
|
2005 |
2017 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
13
|
82
|
0.180 |
None |
1.000 |
9 |
1
|
1982 |
2014 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
12
|
12
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
9
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |