Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1856019 Abnormal cortical gyration phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding Abnormality of the nervous system 1 12
C1854882 Absent speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 0 72
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 0 58
C0152207 Alternating Exotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 0 1
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 0 35
C2936786 Aqueductal Stenosis disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 8 2
C1860450 Calcaneovalgus deformity disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 0 2
C1844925 Cervical spinal canal stenosis phenotype Finding Abnormality of the skeletal system 0 2
C0009451 Communicating Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 7 1
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 7 49
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 5 27
C4476710 Delayed ability to sit phenotype Finding Abnormality of the nervous system 0 1
C4476709 Delayed ability to stand phenotype Finding Abnormality of the nervous system 0 1
C4023681 Delayed fine motor development phenotype Finding Abnormality of the nervous system 0 13
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 5 192
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 0 39
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 0 32
C0431369 Dysgenesis of corpus callosum disease Congenital Abnormality Abnormality of the nervous system 0 3
C0008519 Ectopic Tissue phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 0 4
C4021217 EEG with generalized slow activity phenotype Finding Abnormality of the nervous system 0 6
C4022871 Extra-axial cerebrospinal fluid accumulation phenotype Finding Abnormality of the nervous system 0 1
C1846385 FOCAL CORTICAL DYSPLASIA OF TAYLOR disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 3 24
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 164
C0085207 Gestational Diabetes phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of the endocrine system 9 20
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 0 59