Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
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
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 54 69
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 31 40
C1844820 Range of joint movement increased phenotype Finding Abnormality of the skeletal system 30 46
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 26 34
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 26 32
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 24 31
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 23 25
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 18 25
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 18 22
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 17 19
C0019322 Umbilical hernia phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 17 17
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 15 26
C0235833 Congenital diaphragmatic hernia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of connective tissue; Abnormality of the musculature 15 21
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 15 16