Unilateral primary pulmonary dysgenesis
disease
Disease or Syndrome
5
0.100
None
0
Right aortic arch with mirror image branching
disease
Anatomical Abnormality
7
0.100
None
0
CONOTRUNCAL ANOMALY FACE SYNDROME
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
18
0.310
None
1.000
1
2003
2003
Schwannomatosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases
Neoplastic Process
18
2
0.010
None
1.000
1
2020
2020
Retinal vascular tortuosity
phenotype
Finding
20
1
0.100
None
0
Mental Disorders, Severe
disease
Mental Disorders
Mental or Behavioral Dysfunction
26
1
0.300
None
1.000
1
2008
2008
Velopharyngeal Insufficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
27
6
0.100
None
0
Squamous cell carcinoma of tonsil
disease
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
Neoplastic Process
30
0.010
None
1.000
1
2016
2016
Bilateral Wilms Tumor
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
31
0.300
None
1.000
1
2017
2017
22q11 Deletion Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
31
2
0.010
None
1.000
1
2012
2012
Narrow palpebral fissure
phenotype
Finding
34
3
0.100
None
0
Abnormal renal morphology
disease
Congenital Abnormality
35
3
0.010
None
1.000
1
2016
2016
Paranoia
disease
Mental Disorders
Mental or Behavioral Dysfunction
35
5
0.100
None
0
Pierre Robin Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
39
3
0.100
None
0
Posterior embryotoxon
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
44
0.100
None
0
Shprintzen syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
46
3
0.310
None
1.000
1
2003
2003
Diagnosis, Psychiatric
disease
Mental Disorders
Mental or Behavioral Dysfunction
46
1
0.300
None
1.000
1
2008
2008
Multinodular goiter
disease
Neoplasms; Endocrine System Diseases
Disease or Syndrome
51
6
0.010
None
1.000
1
2020
2020
Young onset Parkinson disease
disease
Nervous System Diseases
Disease or Syndrome
51
32
0.010
None
1.000
1
2013
2013
Hand deformities
group
Musculoskeletal Diseases
Anatomical Abnormality
60
2
0.100
None
0
Shprintzen-Goldberg syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
Disease or Syndrome
61
21
0.040
None
1.000
4
2003
2018
FRAGILE X TREMOR/ATAXIA SYNDROME
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
62
0.010
None
1.000
1
2013
2013
×
CUI:
C1968949
Disease:
Cakut
Cakut
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
72
8
0.010
None
1.000
1
2016
2016
Behavior Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
77
4
0.300
None
1.000
1
2008
2008
Underdeveloped nasal alae
phenotype
Congenital Abnormality
79
8
0.100
None
0