C0432072 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
|
|
335 |
611 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
303 |
505 |
C2315100 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
|
Growth abnormality
|
89 |
118 |
C0028738 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
62 |
83 |
C0038379 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
61 |
85 |
C0151779 |
Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the integument; Neoplasm
|
38 |
153 |
C0152013 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Neoplasm; Abnormality of the respiratory system
|
37 |
211 |
C0278701 |
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
30 |
188 |
C0007194 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
29 |
468 |
C0025202 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
Neoplasm
|
25 |
129 |
C0949658 |
Cardiomyopathy, Hypertrophic, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
24 |
332 |
C0431478 |
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the ear
|
21 |
23 |
C1849075 |
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
17 |
19 |
C0028326 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health
|
|
12 |
153 |
C4551602 |
Noonan Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
11 |
73 |
C0235752 |
Port-Wine Stain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the integument
|
8 |
8 |
C1860991 |
NOONAN SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
6 |
32 |
C1384670 |
Single umbilical artery
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
|
Abnormality of prenatal development or birth; Abnormality of the cardiovascular system
|
5 |
5 |
C0175704 |
LEOPARD Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease
|
|
3 |
17 |
C0017168 |
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the digestive system
|
2 |
2 |
C0348872 |
Disorders of both mitral and tricuspid valves
|
disease |
|
Disease or Syndrome
|
|
|
1 |
1 |
C1969056 |
LEOPARD SYNDROME 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
6 |
C1969057 |
Noonan Syndrome 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
8 |
C4014656 |
CARDIOMYOPATHY, DILATED, 1NN
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
6 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
336 |
579 |