Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1857130 Hypoplastic mandible condyle phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 394
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 394
C4476525 Retrusion of lower jaw phenotype Anatomical Abnormality 394
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 381
C0007758 Cerebellar Ataxia phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the nervous system 368
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck; Abnormality of the eye 365
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 364
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 338
C0019209 Hepatomegaly phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system 331
C1839764 Broad flat nasal bridge phenotype Finding Abnormality of head or neck 329
C0086543 Cataract disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 329
C1510497 Lens Opacities phenotype Eye Diseases Finding disease of anatomical entity Abnormality of the eye 329
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 329
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 321
C0026838 Muscle Spasticity phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the musculature; Abnormality of the nervous system 300
C0151889 Hyperreflexia phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system 294
C0239234 Low set ears phenotype Congenital Abnormality Abnormality of the ear 290
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 280
C0266435 Congenital hypoplasia of penis disease Congenital Abnormality Abnormality of the genitourinary system 280
C0013362 Dysarthria disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction Abnormality of the nervous system 276
C4280495 Concave bridge of nose phenotype Finding Abnormality of head or neck 274
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 274
C3550546 Depressed nasal root/bridge phenotype Finding Abnormality of head or neck 274
C0015934 Fetal Growth Retardation phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms Pathologic Function disease of anatomical entity Growth abnormality 274
C0021296 Infant, Small for Gestational Age phenotype Disease or Syndrome Growth abnormality 274