Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4023116 Hypoplastic fifth toenail disease Anatomical Abnormality Abnormality of the integument 12
C1847117 Dilated fourth ventricle phenotype Finding Abnormality of the nervous system 13
C1856118 Prominent nasal tip phenotype Finding Abnormality of head or neck 13
C0428302 Calcium level result phenotype Laboratory or Test Result 14
C1849538 Delayed eruption of primary teeth phenotype Finding Abnormality of head or neck 14
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 16
C1835807 Prominent fingertip pads phenotype Finding Abnormality of the integument; Abnormality of limbs; Abnormality of the skeletal system 16
C0431384 Colpocephaly disease Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 17
C1853377 Enlarged cisterna magna phenotype Finding Abnormality of the nervous system 18
C4023681 Delayed fine motor development phenotype Finding Abnormality of the nervous system 19
C1868577 Patella aplasia-hypoplasia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 20
C0855740 Abnormal platelet function phenotype Finding Abnormality of blood and blood-forming tissues 21
C0201925 Calcium measurement phenotype Laboratory Procedure 23
C3150613 Long toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 24
C0431663 Bilateral Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality Abnormality of the genitourinary system 27
C0265563 Congenital dislocation of radial head disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 27
C2237142 Moderate global developmental delay phenotype Finding Abnormality of the nervous system 27
C0206733 Strawberry nevus of skin disease Neoplasms Neoplastic Process disease of anatomical entity Neoplasm; Abnormality of the cardiovascular system 27
C0265998 ANONYCHIA disease Pathological Conditions, Signs and Symptoms Congenital Abnormality disease of anatomical entity Abnormality of the integument 28
C1855333 External genital hypoplasia phenotype Finding Abnormality of the genitourinary system 28
C4021801 Lacrimation abnormality disease Anatomical Abnormality Abnormality of the eye 29
C4025249 Abnormality of the intervertebral disk disease Anatomical Abnormality Abnormality of the skeletal system 30
C1844820 Range of joint movement increased phenotype Finding Abnormality of the skeletal system 30
C3697248 Short lower third of face phenotype Finding Abnormality of head or neck 33
C0431368 Partial 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 34