C0019322 |
Umbilical hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
disease of anatomical entity; physical disorder
|
Abnormality of the digestive system; Abnormality of connective tissue
|
17 |
17 |
C4023676 |
Increased nuchal translucency
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth
|
2 |
2 |
C0005745 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
37 |
49 |
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 |
C0016842 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
26 |
35 |
C1956257 |
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
19 |
38 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
190 |
292 |
C1850049 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
37 |
39 |
C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
31 |
39 |
C1840077 |
Anteverted nostril
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
30 |
35 |
C0678230 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
29 |
30 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
26 |
29 |
C0521525 |
Short neck
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
26 |
29 |
C1854114 |
Short nose
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
20 |
23 |
C1827524 |
Wide spaced nipples
|
phenotype |
|
Finding
|
|
Abnormality of the breast
|
19 |
19 |
C1857486 |
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
17 |
19 |
C0423112 |
Short palpebral fissure
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
15 |
16 |
C1842366 |
Low anterior hairline
|
phenotype |
|
Finding
|
|
Abnormality of the integument; Abnormality of head or neck
|
13 |
17 |
C1855728 |
Low posterior hairline
|
phenotype |
|
Finding
|
|
Abnormality of the integument; Abnormality of head or neck
|
10 |
11 |
C4282407 |
Sparse and thin eyebrow
|
phenotype |
|
Finding
|
|
Abnormality of the integument; Abnormality of head or neck
|
8 |
8 |
C1857539 |
Deep palmar crease
|
phenotype |
|
Finding
|
|
Abnormality of the integument; Abnormality of limbs
|
7 |
8 |
C1860493 |
Abnormality of the sternum
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of the skeletal system
|
6 |
11 |
C1839797 |
Deep philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
5 |
5 |
C1857953 |
Deep plantar creases
|
phenotype |
|
Finding
|
|
Abnormality of the integument; Abnormality of limbs
|
5 |
6 |