Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 31 38
C1844820 Range of joint movement increased phenotype Finding Abnormality of the skeletal system 30 46
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
C0040485 Torticollis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 9 8
C0206733 Strawberry nevus of skin disease Neoplasms Neoplastic Process disease of anatomical entity Neoplasm; Abnormality of the cardiovascular system 5 5
C3281201 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; syndrome; disease of mental health 3 61
C4551629 Congenital talipes calcaneovalgus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 1 1