Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
0.100
None
0
Cafe au lait spots, multiple
disease
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Disease or Syndrome
61
13
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Obesity
disease
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
Disease or Syndrome
2821
1111
0.010
None
1.000
1
2016
2016
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Profound intellectual disabilities
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
112
10
0.100
None
0
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.100
None
0
Hyperactive behavior
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
1263
112
0.010
None
1.000
1
2020
2020
Sarcopenia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
164
10
0.010
None
1.000
1
2020
2020
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Tonic - clonic seizures
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
300
32
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Generalized myoclonic seizures
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
105
8
0.100
None
0
Renal cyst
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
170
17
0.100
None
0
High-Grade Squamous Intraepithelial Lesions
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
Neoplastic Process
150
8
0.010
None
1.000
1
2019
2019
Low Grade Squamous Intraepithelial Neoplasia
disease
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
Neoplastic Process
94
2
0.010
None
1.000
1
2019
2019
Carcinogenesis
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
6243
355
0.090
None
1.000
9
2007
2019
Neoplasm Metastasis
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
6385
327
0.040
None
1.000
4
2002
2016
Secondary malignant neoplasm of lymph node
disease
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
2825
188
0.010
None
1.000
1
2002
2002
Secondary Neoplasm
group
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
2492
85
0.010
None
1.000
1
2002
2002
Small for gestational age (disorder)
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
Finding
181
34
0.100
None
0
Agenesis of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
615
45
0.120
None
1.000
2
2019
2019
Simple renal cyst
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
100
2
0.100
None
0
Warburton Anyane Yeboa syndrome
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Disease or Syndrome
5
0.300
None
1.000
1
2004
2004