Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0265338 Coffin-Siris syndrome 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 1
C4551629 Congenital talipes calcaneovalgus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 1
C1851095 Lumbosacral hirsutism phenotype Finding Abnormality of the integument 1
C4021006 Short distal phalanx of the 5th toe phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C0266324 Congenital dilatation of ureter disease Congenital Abnormality Abnormality of the genitourinary system 3
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
C1303073 Nicolaides Baraitser syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4
C1859115 Prominent interphalangeal joints phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4
C0038358 Gastric ulcer disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 5
C4073145 Hyperkeratosis pilaris disease Disease or Syndrome Abnormality of the integument 5
C0021933 Intussusception disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 6
C1836674 Short distal phalanx of the 5th finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 6
C1851400 Facial Hypertrichosis phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 8
C0575497 Short sternum phenotype Finding Abnormality of the skeletal system 9
C4024507 Aplasia/Hypoplasia of the distal phalanx of the 5th finger disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10
C4022120 Aplasia/Hypoplasia of the distal phalanx of the 5th toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 10
C0013295 Duodenal Ulcer disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 10
C0020517 Hypersensitivity group Immune System Diseases Pathologic Function disease of anatomical entity Abnormality of the immune system 10
C0585984 Laryngotracheomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality Abnormality of the respiratory system 10
C0683322 Mental impairment disease Mental or Behavioral Dysfunction Abnormality of the nervous system 10
C1851085 Severe expressive language delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 10
C0425913 Uterus absent (finding) phenotype Finding Abnormality of the genitourinary system 10
C4024682 Hypoplastic fifth fingernail disease Anatomical Abnormality Abnormality of the integument 11
C1857353 Posterior fossa cyst phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 11
C0277960 Dry hair phenotype Finding Abnormality of the integument 12