Source: ALL

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 1825 553
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1112 395
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 850 135
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 783 111
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 725 80
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 716 89
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 560 192
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 190 75
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 106 40
C0266294 Unilateral agenesis of kidney disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 69 7
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 49 19
C0265677 Congenital hemivertebra disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 49 4
C1860493 Abnormality of the sternum phenotype Anatomical Abnormality Abnormality of the skeletal system 46 11
C0265695 Congenital fusion of ribs disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the skeletal system 37 2
C1301509 Severe visual impairment disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 35 9
C0542519 Congenital absence of kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality disease of anatomical entity Abnormality of the genitourinary system 33 3
C1398522 Cleft palate and bilateral cleft lip disease Congenital Abnormality Abnormality of head or neck 18 10
C3553084 Bilateral cleft palate phenotype Finding Abnormality of head or neck 11 1
C0392005 Bilateral cleft lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 8 1