Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0029882 Otitis Media disease Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the ear 35
C0034013 Precocious Puberty disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 76
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1192
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 650
C0039273 Talipes cavus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 212
C0042580 Vesico-Ureteral Reflux disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 128
C0086437 Joint laxity phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 212
C0151611 Electroencephalogram abnormal phenotype Nervous System Diseases Finding Abnormality of the nervous system 209
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 526
C0152421 Macrotia disease Congenital Abnormality Abnormality of the ear 176
C0162298 Joint stiffness phenotype Musculoskeletal Diseases Sign or Symptom Abnormality of the skeletal system 158
C0221352 Syndactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 165
C0221354 Frontal bossing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 306
C0221355 Macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 304
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 142
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 83
C0239479 Round face phenotype Finding Abnormality of head or neck 87
C0239676 High forehead phenotype Finding Abnormality of head or neck 205
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 469
C0241240 Tall stature phenotype Finding Growth abnormality 69
C0263523 Micronychia (disorder) phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 55
C0266054 Premature tooth eruption phenotype Finding Abnormality of head or neck 12
C0266298 Accessory kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 19
C0266435 Congenital hypoplasia of penis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 237