Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
24
|
0.300 |
|
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Curly hair (finding)
|
phenotype |
|
Finding
|
24
|
7
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Enlarged thorax
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Exophthalmos
|
disease |
Eye Diseases
|
Disease or Syndrome
|
225
|
12
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Heart Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Human papilloma virus infection
|
disease |
Infections
|
Disease or Syndrome
|
429
|
42
|
0.010 |
None |
< 0.001 |
1 |
|
2006 |
2006 |
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
|
92
|
14
|
0.300 |
strong |
|
0 |
|
|
|
Hyperkeratosis pilaris
|
disease |
|
Disease or Syndrome
|
5
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.100 |
None |
|
0 |
|
|
|
Joint hyperflexibility
|
phenotype |
|
Finding
|
181
|
12
|
0.100 |
None |
|
0 |
|
|
|
LEOPARD Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
47
|
27
|
0.300 |
|
|
0 |
|
|
|
Low posterior hairline
|
phenotype |
|
Finding
|
86
|
11
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Lymphangioma, Cystic
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lymphedema
|
disease |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
61
|
1
|
0.100 |
None |
|
0 |
|
|
|
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |