Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
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 43 49
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 34 314
C2267233 Neonatal Hypotonia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 27 45
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 27 34
C0338502 Hypoplasia of the optic nerve disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system; Abnormality of the eye 13 13
C0241816 Global brain atrophy phenotype Pathologic Function Abnormality of the nervous system 5 6
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 4 5
C1856895 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 phenotype Finding 2 9
C0221166 Paraparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 2 3
C3809753 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 disease Disease or Syndrome genetic disease; disease of mental health 1 2