C4072872 |
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
|
|
28 |
41 |
C0521525 |
Short neck
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
26 |
29 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
26 |
29 |
C0575802 |
Small hand
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
24 |
31 |
C1861324 |
Short philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
24 |
25 |
C4054546 |
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
|
|
24 |
28 |
C0241005 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
23 |
42 |
C1837260 |
Prominent forehead
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
23 |
25 |
C1842364 |
Central hypotonia
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system; Abnormality of the musculature
|
23 |
25 |
C2673410 |
Small midface
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
23 |
24 |
C1844806 |
Weight less than 3rd percentile
|
phenotype |
|
Finding
|
|
Growth abnormality
|
22 |
27 |
C0431478 |
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the ear
|
21 |
23 |
C4316870 |
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of the eye
|
21 |
29 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
21 |
442 |
C1836150 |
Gait imbalance
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
20 |
24 |
C1840379 |
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
20 |
26 |
C1854114 |
Short nose
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
20 |
23 |
C0221358 |
Long narrow head
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
19 |
26 |
C0856863 |
Broad-based gait
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
19 |
24 |
C1827524 |
Wide spaced nipples
|
phenotype |
|
Finding
|
|
Abnormality of the breast
|
19 |
19 |
C1837404 |
High, narrow palate
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
19 |
21 |
C1839758 |
Narrow forehead
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
19 |
20 |
C0855329 |
Electrocardiogram change
|
phenotype |
|
Finding
|
|
|
18 |
27 |
C1865017 |
Thin upper lip vermilion
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
18 |
25 |
C2674608 |
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
18 |
22 |