Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 225
C4022916 Abnormal aldolase level phenotype Finding Abnormality of metabolism/homeostasis 16
C4073168 Abnormal lactate dehydrogenase activity phenotype Finding Abnormality of metabolism/homeostasis 18
C4025845 Abnormality iris morphology disease Anatomical Abnormality Abnormality of the eye 25
C2673431 Abnormality of the periventricular white matter disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality Abnormality of the nervous system 38
C4024905 Abnormality of the pons disease Anatomical Abnormality Abnormality of the nervous system 7
C4073139 Abnormality of the tongue muscle phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the musculature 5
C4021776 Abnormality of the voice disease Finding Abnormality of the voice 64
C0431371 Absence of septum pellucidum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 82
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 193
C1854882 Absent speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 204
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 202
C1879312 Agyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder Abnormality of the nervous system 13
C0003119 Anophthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 59
C0003466 Anus, Imperforate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the digestive system 116
C4025773 Aplasia/Hypoplasia involving the skeletal musculature phenotype Finding Abnormality of the musculature 19
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 112
C1866190 Atresia of the external auditory canal disease Anatomical Abnormality Abnormality of the ear 43
C0521694 Atrophic retina disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 17
C0856975 Autistic behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 192
C1843697 Axial muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 28
C4551488 Bifid uvula disease Congenital Abnormality Abnormality of head or neck 91
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 231
C1843057 Calf muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 46