Nephronophthisis
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
96
103
0.100
None
0
2
Chondrodysplasia, Megarbane-Dagher-Melki Type
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Mental Disorders
Disease or Syndrome
2
1
0.700
moderate
1.000
2
1
2014
2016
NEPHRONOPHTHISIS 7
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
2
1
0.100
None
0
1
ACTH-Secreting Pituitary Adenoma
disease
Neoplasms; Nervous System Diseases; Endocrine System Diseases
Neoplastic Process
67
5
0.010
None
1.000
1
2010
2010
Prostatic Neoplasms
group
Neoplasms; Male Urogenital Diseases
Neoplastic Process
1722
31
0.010
None
1.000
1
2005
2005
×
CUI:
C0205204
Disease:
Scab
Scab
disease
Acquired Abnormality
24
0.010
None
1.000
1
2019
2019
Deep philtrum
phenotype
Finding
42
5
0.100
None
0
Squared iliac bones
phenotype
Finding
6
0.100
None
0
Prominent forehead
phenotype
Finding
159
25
0.100
None
0
Metaphyseal cupping
phenotype
Finding
13
0.100
None
0
Depressed nasal bridge
phenotype
Finding
426
39
0.100
None
0
Strudwick syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
17
19
0.100
None
0
Anteverted nostril
phenotype
Finding
407
35
0.100
None
0
Severe platyspondyly
phenotype
Finding
5
0.100
None
0
Muscular hypotonia of the trunk
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
156
25
0.100
None
0
Short nose
phenotype
Finding
265
23
0.100
None
0
Short long bone
phenotype
Finding
42
19
0.100
None
0
Iliac crest serration
phenotype
Finding
3
0.100
None
0
Hypoplastic ischia
phenotype
Finding
14
0.100
None
0
Bell-shaped thorax
phenotype
Finding
26
7
0.100
None
0
Short Stature, CTCAE
phenotype
Finding
1010
0.100
None
0
Pulmonary arterial hypertension
disease
Respiratory Tract Diseases; Cardiovascular Diseases
Disease or Syndrome
413
70
0.100
None
0
Idiopathic pulmonary arterial hypertension
disease
Respiratory Tract Diseases
Disease or Syndrome
776
24
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Small for gestational age (disorder)
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
Finding
181
34
0.100
None
0