Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1861376 2nd-5th toe middle phalangeal hypoplasia phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C4025756 Abnormal aortic morphology disease Anatomical Abnormality Abnormality of the cardiovascular system 28
C4021815 Abnormal palate morphology disease Finding Abnormality of head or neck 38
C4025753 Abnormal tricuspid valve morphology disease Anatomical Abnormality Abnormality of the cardiovascular system 10
C3164374 Abnormality of pulmonary valve disease Finding Abnormality of the cardiovascular system 40
C4021735 Abnormality of the hip bone disease Anatomical Abnormality Abnormality of the skeletal system 38
C0426816 Absence of rib phenotype Congenital Abnormality Abnormality of the skeletal system 17
C1844554 Absent fingernail phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality Abnormality of the integument 19
C0266298 Accessory kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 19
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
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
C0152415 Ankyloglossia disease Stomatognathic Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 13
C0265998 ANONYCHIA disease Pathological Conditions, Signs and Symptoms Congenital Abnormality disease of anatomical entity Abnormality of the integument 28
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C1836192 Aplasia/Hypoplasia involving the metacarpal bones phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 7
C1861336 Aplasia/Hypoplasia of the distal phalanges of the hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 6
C4021326 Aplasia/Hypoplasia of the distal phalanges of the toes phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 229
C4021772 Bifid distal phalanx of toe disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C0266111 Bifid tongue disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of head or neck 23
C1862095 Bilateral single transverse palmar creases phenotype Finding Abnormality of the integument; Abnormality of limbs 64
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 558
C0542514 Blue sclera phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding Abnormality of the eye 68
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 285
C1862112 BRACHYDACTYLY, TYPE B1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs; Abnormality of the skeletal system 2