Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4025774 1-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C4023728 1-5 finger syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C1839731 11 pairs of ribs phenotype Finding Abnormality of the skeletal system 3 3
C0268296 17-Hydroxysteroid Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 4
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 14 16
C1859817 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA disease Finding genetic disease; disease of metabolism 1 6
C3266731 2-methyl-3-hydroxybutyric aciduria phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of mental health 1 8
C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 1 9
C0342471 3 beta-Hydroxysteroid dehydrogenase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 9
C1856889 3-4 finger syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C1834062 3-4 toe syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C0342727 3-@METHYLGLUTACONIC ACIDURIA, TYPE I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 2
C1857776 3-@METHYLGLUTACONIC ACIDURIA, TYPE V disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C2751532 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 8
C1291230 3-Hydroxyacyl-CoA Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C0268600 3-methylcrotonyl CoA carboxylase 1 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 1 25
C1859499 3-methylcrotonyl CoA carboxylase 2 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 1 12
C0574083 3-Methylglutaconic aciduria type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 1 22
C0574084 3-Methylglutaconic aciduria type 3 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 11
C4225393 3-methylglutaconic aciduria type 7 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 19
C3553597 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME disease Disease or Syndrome genetic disease; disease of metabolism 1 7
C4540171 3-METHYLGLUTACONIC ACIDURIA, TYPE IX disease Disease or Syndrome genetic disease; disease of metabolism 1 2
C3151952 3-Methylglutaric aciduria phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype 1 1
C0796137 3C syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 1 6