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
C4023721 Abnormal hair pattern disease Anatomical Abnormality Abnormality of the integument 14
C4023528 Abnormality of skin morphology phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality Abnormality of the integument 14
C4021735 Abnormality of the hip bone disease Anatomical Abnormality Abnormality of the skeletal system 38
C1855852 Abnormally large globe phenotype Finding Abnormality of the eye 15
C4316903 Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 93
C4022849 Absent thumbnail phenotype Finding Abnormality of the integument 15
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
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
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C1263846 Attention deficit hyperactivity disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 234
C0856975 Autistic behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 192
C0034935 Babinski Reflex phenotype Finding Abnormality of the nervous system 210
C1857500 Broad alveolar ridges phenotype Finding Abnormality of head or neck 10
C1844906 Broad finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 17
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 120
C4023986 Broad phalanx of the toes phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 17
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
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 253
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 240
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C0085583 Choreoathetosis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 80
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 407
C4021620 Clinodactyly of the 2nd toe disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 32
C1845847 Coarse facial features phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 185