Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46 52
C0431399 Familial aplasia of the vermis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Abnormality of the nervous system 26 175
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 26 34
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 23 25
C2981150 Uranostaphyloschisis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 21 24
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 58
C1145670 Respiratory Failure disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 10 10
C4551568 Joubert syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 7 27
C0746102 Chronic lung disease disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 6 7
C2112942 Preaxial foot polydactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4 5
C0432163 Defect of vertebral segmentation disease Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 3 6
C0265677 Congenital hemivertebra disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 3 3
C0345375 Congenital hypoplasia of femur disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 3
C0206062 Lung Diseases, Interstitial group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 2 2
C0033785 Pseudarthrosis phenotype Wounds and Injuries Pathologic Function Abnormality of the skeletal system 1 1
C0345394 Hypoplasia of spine disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 1 1
C1857802 MORM syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 1
C4021862 Absent epiphyses phenotype Anatomical Abnormality Abnormality of the skeletal system 1 1
C4025010 Coat hanger sign of ribs disease Anatomical Abnormality Abnormality of the skeletal system 1 1