MEIER-GORLIN SYNDROME 2
disease
Disease or Syndrome
1
4
0.600
None
1.000
5
4
1998
2015
EAR, PATELLA, SHORT STATURE SYNDROME
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
78
12
0.520
None
1.000
4
2011
2017
Congenital small ears
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
Congenital Abnormality
137
13
0.400
strong
1.000
1
1998
1998
Chronic myeloproliferative disorder
disease
Neoplasms; Hemic and Lymphatic Diseases
Neoplastic Process
366
47
0.300
strong
1.000
1
2011
2011
Seckel syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
Disease or Syndrome
56
3
0.300
strong
1.000
1
2011
2011
Dwarfism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Congenital Abnormality
1261
77
0.130
None
1.000
3
2012
2017
Microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
1064
27
0.120
None
1.000
2
2012
2015
Uric acid measurement (procedure)
phenotype
Laboratory Procedure
264
1463
0.100
None
1.000
3
1
2013
2019
×
CUI:
C0018099
Disease:
Gout
Gout
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
205
2354
0.100
None
1.000
1
22
2013
2013
Arthritis, Gouty
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
206
2356
0.100
None
1.000
1
22
2013
2013
Glomerular Filtration Rate
phenotype
Diagnostic Procedure
399
1033
0.100
None
1.000
1
2
2019
2019
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Slender long bone
phenotype
Finding
35
5
0.100
None
0
Underdeveloped nasal alae
phenotype
Congenital Abnormality
79
8
0.100
None
0
Congenital absence of mandible
disease
Congenital Abnormality
14
0.100
None
0
Thick vermilion border
phenotype
Finding
95
15
0.100
None
0
Delayed bone age
phenotype
Finding
295
14
0.100
None
0
Respiratory Failure
disease
Respiratory Tract Diseases
Disease or Syndrome
319
23
0.100
None
0
Smooth philtrum
phenotype
Finding
105
10
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Small labia majora
phenotype
Finding
35
3
0.100
None
0
Congenital Camptodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
123
10
0.100
None
0
Hypospadias
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Congenital Abnormality
366
80
0.100
None
0
Congenital absence of external ear
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
Congenital Abnormality
11
0.100
None
0
Tracheomalacia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
Disease or Syndrome
30
5
0.100
None
0