Underdeveloped nasal alae
phenotype
Congenital Abnormality
79
8
0.100
None
0
Clinodactyly of the 5th finger
disease
Congenital Abnormality
284
39
0.100
None
0
Aplastic clavicle
phenotype
Congenital Abnormality
19
0.100
None
0
Patellar aplasia
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
17
3
0.100
None
0
Bifid uvula
disease
Congenital Abnormality
97
7
0.100
None
0
Glomerular Filtration Rate
phenotype
Diagnostic Procedure
399
1033
0.100
None
1.000
1
2
2019
2019
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
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
Common Variable Immunodeficiency
disease
Immune System Diseases
Disease or Syndrome
207
85
0.010
None
1.000
1
2011
2011
×
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
Pulmonary Emphysema
disease
Respiratory Tract Diseases
Disease or Syndrome
352
64
0.010
None
1.000
1
2012
2012
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
46, XY female
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Disease or Syndrome
25
5
0.010
None
1.000
1
2017
2017
Craniosynostosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
488
90
0.100
None
0
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.100
None
0
Gastroesophageal reflux disease
disease
Digestive System Diseases
Disease or Syndrome
446
52
0.100
None
0
Hypertrophy of clitoris
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
63
2
0.100
None
0
Bronchomalacia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
Disease or Syndrome
10
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
Respiratory Failure
disease
Respiratory Tract Diseases
Disease or Syndrome
319
23
0.100
None
0
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Feeding difficulties
phenotype
Finding
473
62
0.100
None
0
High pitched voice
phenotype
Finding
35
1
0.100
None
0