C0432072 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
|
|
335 |
611 |
C0000772 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
237 |
350 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
190 |
292 |
C4551563 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
|
160 |
246 |
C0020676 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the endocrine system
|
25 |
28 |
C0002418 |
Amblyopia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
17 |
22 |
C1857486 |
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
17 |
19 |
C0020490 |
Hyperopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
16 |
17 |
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 |
C4025790 |
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
10 |
13 |
C0423798 |
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
|
Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system
|
9 |
14 |
C0349639 |
Juvenile Myelomonocytic Leukemia
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues
|
6 |
53 |
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 |
C0575897 |
Thumb deformity
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
6 |
7 |
C0239174 |
Late tooth eruption
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
4 |
4 |
C0410530 |
Metachondromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
29 |
C4551484 |
Leopard Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
22 |