Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 103 131
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 41 56
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 30 32
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 26 34
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 26 25
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 19 38
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C0079924 Oligohydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 17 21
C2677180 Congenital microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 15 28
C0239676 High forehead phenotype Finding Abnormality of head or neck 14 17
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 14 16
C0424731 Single transverse palmar crease phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the integument; Abnormality of limbs 14 14
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
C1836047 Long face phenotype Finding Abnormality of head or neck 11 12
C0266313 Allanson Pantzar McLeod syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 8 22
C0575897 Thumb deformity phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 6 7
C1839546 Microretrognathia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding Abnormality of head or neck; Abnormality of the skeletal system 6 6
C1840069 Sandal gap phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 6 6
C1857278 Partial or complete agenesis of corpus callosum disease Congenital Abnormality Abnormality of the nervous system 5 6
C1836940 Thickened nuchal skin fold phenotype Finding Abnormality of prenatal development or birth; Abnormality of head or neck 3 4