C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
133 |
C4277690 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
109 |
C0878659 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
|
Growth abnormality
|
77 |
C0152423 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
|
Abnormality of the ear
|
40 |
C0598589 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
|
40 |
C0424605 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
|
37 |
C3860213 |
Autoinflammatory disorder
|
disease |
|
Disease or Syndrome
|
|
|
35 |
C4228778 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
33 |
C0543888 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
30 |
C4521256 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
|
|
23 |
C0020443 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
22 |
C0431350 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
|
22 |
C0003886 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
19 |
C0020305 |
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth
|
19 |
C0232466 |
Feeding difficulties
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
18 |
C1855710 |
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
|
Abnormality of blood and blood-forming tissues
|
18 |
C0233514 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
16 |
C3888631 |
Monogenic diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
16 |
C1704374 |
Carcinoma of Endocrine Gland
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
|
|
15 |
C1832200 |
Peroxisome biogenesis disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
15 |
C1858120 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
15 |
C1150929 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
|
|
14 |
C0369183 |
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
|
|
13 |
C1136249 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
13 |
C1261502 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
|
|
13 |