Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
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
C4022765 Abnormality of the subarachnoid space phenotype Anatomical Abnormality Abnormality of the nervous system 3 4
C0406740 Kohlschutter Tonz syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome 1 11
C4020870 Abnormality of the hip joint disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
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
C4022764 Abnormal metabolic brain imaging by MRS phenotype Finding Abnormality of the nervous system 1 2