C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1458 |
C0221355 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
304 |
C0494475 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
178 |
C0020615 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism; disease of anatomical entity
|
Abnormality of metabolism/homeostasis
|
153 |
C2711227 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
|
Abnormality of the digestive system
|
89 |
C0015695 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
83 |
C0009952 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
74 |
C0022638 |
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
36 |
C0265213 |
Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
18 |
C0543541 |
HYPERGLYCINURIA (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
13 |
C3554691 |
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
2 |
C0220710 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; syndrome
|
|
1 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
1292 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
954 |
C1858120 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
942 |
C0004134 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
609 |
C0454644 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
|
Abnormality of the nervous system
|
556 |
C0202117 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
|
|
483 |
C0019209 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
|
Abnormality of the digestive system
|
472 |
C0015672 |
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
|
Constitutional symptom
|
340 |
C0541794 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
|
Abnormality of the musculature
|
306 |
C0428474 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
|
|
269 |
C0241005 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
228 |
C1848701 |
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
212 |
C0011991 |
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the digestive system
|
207 |