Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1836599 Macrocephaly at birth phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of head or neck; Abnormality of the skeletal system 0 6
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 0 64
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 0 26
C3278658 Linear hyperpigmentation phenotype Finding Abnormality of the integument 0 2
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 0 116
C2700617 Irritation - emotion phenotype Behavior and Behavior Mechanisms Mental Process Abnormality of the nervous system 1 14
C4024854 Irregular hyperpigmentation of back phenotype Finding Abnormality of the integument 0 1
C1860236 Irregular hyperpigmentation phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 0 2
C3887898 Infantile Spasm disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 0 22
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 1 49
C0162835 Hypopigmentation disorder disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 3 6
C4024877 Hyperpigmented/hypopigmented macules phenotype Finding Abnormality of the integument 0 1
C1866245 Hyperpigmented streaks phenotype Finding Abnormality of the integument 0 1
C0162834 Hyperpigmentation phenotype Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 3 11
C1850853 Hyperextensibility at wrists phenotype Finding Abnormality of the skeletal system 0 1
C4023808 Hyperextensibility at elbow phenotype Anatomical Abnormality Abnormality of the skeletal system 0 7
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 9 24
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 0 59
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
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 164
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
C4022871 Extra-axial cerebrospinal fluid accumulation phenotype Finding Abnormality of the nervous system 0 1
C4021217 EEG with generalized slow activity phenotype Finding Abnormality of the nervous system 0 6
C0008519 Ectopic Tissue phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 0 4
C0431369 Dysgenesis of corpus callosum disease Congenital Abnormality Abnormality of the nervous system 0 3