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 |
C2315100 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
|
Growth abnormality
|
89 |
118 |
C1844806 |
Weight less than 3rd percentile
|
phenotype |
|
Finding
|
|
Growth abnormality
|
22 |
27 |
C0427065 |
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
13 |
16 |
C0262444 |
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
|
Abnormality of head or neck
|
13 |
16 |
C0162834 |
Hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
|
Abnormality of the integument
|
11 |
11 |
C0476403 |
Electromyogram abnormal
|
phenotype |
|
Finding
|
|
Abnormality of the musculature
|
9 |
12 |
C0270914 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
6 |
138 |
C2132198 |
Abnormal blistering of the skin
|
phenotype |
|
Finding
|
|
Abnormality of the integument
|
4 |
10 |
C0221260 |
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
|
Abnormality of the integument
|
4 |
7 |
C4021800 |
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue
|
3 |
4 |
C0574769 |
Loss of scalp hair
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
|
Abnormality of the integument; Abnormality of head or neck
|
3 |
4 |
C0008767 |
Cicatrization
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
|
Abnormality of connective tissue
|
2 |
3 |
C3806301 |
Scarring alopecia of scalp
|
phenotype |
|
Finding
|
|
Abnormality of the integument; Abnormality of head or neck; Abnormality of connective tissue
|
2 |
3 |
C0393807 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
10 |
C4310875 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
|
disease |
|
Disease or Syndrome
|
|
|
1 |
4 |