Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1835820 HOLOPROSENCEPHALY 7 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; physical disorder 1 2
C3805371 Pits of palms and soles phenotype Finding 1 2
C0029443 Osteomyelitis disease Infections; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the skeletal system 1 1
C0154936 Pupillary abnormality phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 1 1
C0432073 Defect of skull ossification group Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 1
C1846438 Hypoplastic facial bones phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 1 1
C1847886 Anomalous branches of internal carotid artery phenotype Finding Abnormality of the cardiovascular system 1 1
C1850135 Flared metaphysis phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C1855899 Broad first metatarsal phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C1857025 Progressive congenital scoliosis disease Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 1 1
C1859363 Abnormality of dental eruption phenotype Finding Abnormality of head or neck 1 1
C1859376 Fused sternal ossification centers phenotype Finding Abnormality of the skeletal system 1 1
C1862314 Basal cell nevus disease Neoplasms Neoplastic Process Abnormality of the integument; Neoplasm 1 1
C2032780 Palate fistula phenotype Finding Abnormality of head or neck 1 1
C4020919 Dense metaphyseal bands phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C4021260 Long metacarpals phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C4021598 Distal tibial bowing disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C4022171 Periauricular skin pits disease Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 1 1
C4022592 Oral motor hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 1 1
C4022680 Lagopthalmos disease Disease or Syndrome Abnormality of head or neck 1 1
C4023249 Patent ductus arteriosus after birth at term disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 1 1
C4023330 Abnormal Descemet membrane morphology phenotype Anatomical Abnormality Abnormality of the eye 1 1
C4023930 Enlarged epiphyses of the proximal phalanges of the hand phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C4024230 Contracture of the distal interphalangeal joint of the fingers phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 1
C4024589 Aplasia/Hypoplasia of the mandible phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 1