Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0349588 Short stature phenotype Finding Growth abnormality 1005
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 315
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 156
C0006625 Cachexia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Growth abnormality 73
C0042024 Urinary Incontinence phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function Constitutional symptom; Abnormality of the genitourinary system 129
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 125
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 291
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 244
C0162298 Joint stiffness phenotype Musculoskeletal Diseases Sign or Symptom Abnormality of the skeletal system 158
C0345392 Congenital kyphoscoliosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 136
C0575158 Kyphoscoliosis deformity of spine disease Musculoskeletal Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the skeletal system 135
C0035229 Respiratory Insufficiency phenotype Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 295
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 167
C3805839 Central hypoventilation phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding Abnormality of the respiratory system 16
C1828017 Intermittent hyperventilation phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding Abnormality of the respiratory system 3
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 476
C0231687 Spastic gait phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 53
C1271100 Lower limb spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 42
C1859520 Progressive spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 13
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 55
C1850456 Progressive microcephaly phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 63
C1847514 Postnatal microcephaly phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 60
C0015469 Facial paralysis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 165