Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4022764 Abnormal metabolic brain imaging by MRS phenotype Finding Abnormality of the nervous system 1 2
C4020847 Abnormality of pelvic girdle bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 3 5
C4021739 Abnormality of the acetabulum disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3 5
C4025701 Abnormality of the cerebral cortex disease Anatomical Abnormality Abnormality of the nervous system 6 8
C4025724 Abnormality of the cerebral ventricles disease Anatomical Abnormality Abnormality of the nervous system 4 5
C4020870 Abnormality of the hip joint disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
C4022765 Abnormality of the subarachnoid space phenotype Anatomical Abnormality Abnormality of the nervous system 3 4
C4022735 Cerebral white matter atrophy disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the nervous system 10 11
C1845847 Coarse facial features phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 20 33
C4025165 Cutaneous syndactyly between fingers 2 and 5 phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
C4024270 Distally placed thumb phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 26 32
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
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
C1848673 Hypoplastic feet phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 15 21
C0406740 Kohlschutter Tonz syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome 1 11
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 9 10
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 13 17
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 32 41
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 28 39
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C4022761 Reduced brain N-acetyl aspartate level by MRS phenotype Finding Abnormality of the nervous system 8 8
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417