Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 72
C4023161 Abnormal bone ossification disease Anatomical Abnormality Abnormality of the skeletal system 3
C4025680 Abnormal cartilage morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 2
C2675111 Abnormal eyelash morphology phenotype Finding Abnormality of the integument; Abnormality of head or neck 39
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89
C4025835 Abnormal nasolacrimal system morphology disease Anatomical Abnormality Abnormality of head or neck 23
C4025901 Abnormality of body height disease Finding Growth abnormality 18
C4049796 Abnormality of cardiovascular system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 165
C4021792 Abnormality of the clavicle disease Anatomical Abnormality Abnormality of the skeletal system 42
C0262444 Abnormality of the dentition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 127
C4025750 Abnormality of the nasopharynx disease Anatomical Abnormality Abnormality of head or neck 10
C4021776 Abnormality of the voice disease Finding Abnormality of the voice 64
C1846228 Absence of pubertal development phenotype Finding Abnormality of the endocrine system 24
C4021551 Absence of secondary sex characteristics phenotype Finding Abnormality of the endocrine system 44
C0431371 Absence of septum pellucidum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 82
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C0151860 Acquired porencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 26
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
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 163
C0266362 Ambiguous Genitalia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality Abnormality of the genitourinary system 81
C0409477 Ankylosis of the elbow joint disease Musculoskeletal Diseases Disease or Syndrome Abnormality of limbs; Abnormality of the skeletal system 7
C0003126 Anosmia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 38
C3152182 Anterior chamber anomalies phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 16
C4025821 Anterior hypopituitarism disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 48
C1859775 Anterior pituitary hypoplasia phenotype Finding Abnormality of the nervous system; Abnormality of the endocrine system 17