C4310689 |
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
|
disease |
|
Disease or Syndrome
|
|
|
1 |
8 |
C0000889 |
Acanthosis Nigricans
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the integument
|
2 |
4 |
C0021655 |
Insulin Resistance
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
|
Abnormality of metabolism/homeostasis
|
4 |
7 |
C0085271 |
Self-Injurious Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
4 |
6 |
C1837084 |
Short metacarpal
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
5 |
7 |
C0266295 |
Congenital hypoplasia of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the genitourinary system
|
5 |
6 |
C2711227 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
|
Abnormality of the digestive system
|
5 |
6 |
C1184923 |
Lumbar hyperlordosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
|
Abnormality of the skeletal system
|
7 |
8 |
C0428465 |
Serum lipids high (finding)
|
phenotype |
|
Finding
|
|
|
7 |
7 |
C0262444 |
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
|
Abnormality of head or neck
|
13 |
16 |
C0410528 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
16 |
58 |
C0028754 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Growth abnormality
|
24 |
42 |
C0221357 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
30 |
39 |
C0036857 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
genetic disease; disease of mental health
|
Abnormality of the nervous system
|
43 |
62 |
C0424503 |
Dysmorphic facies
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
88 |
106 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
190 |
292 |