Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385
C3805727 MEGALENCEPHALY, AUTOSOMAL DOMINANT disease Disease or Syndrome 6 5
C4310809 ANTERIOR SEGMENT DYSGENESIS 5 disease Disease or Syndrome disease of anatomical entity 6 31
C3838465 BASAL CELL CARCINOMA, SOMATIC disease Neoplastic Process 5 7
C0004779 Basal Cell Nevus Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process genetic disease 3 117
C1853230 Aphakia, congenital primary disease Eye Diseases Congenital Abnormality disease of anatomical entity 2 4
C1862839 Anterior segment mesenchymal dysgenesis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 2
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
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 23 25
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 19 21
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 15 16
C0423113 Telecanthus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck 14 14
C0332615 Myopathic facies phenotype Finding Abnormality of head or neck 11 15
C0240379 Open mouth (finding) phenotype Finding Abnormality of head or neck 10 11
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9 24
C4024202 Reduced number of teeth phenotype Finding Abnormality of head or neck 5 11
C0031900 Pierre Robin Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome Abnormality of head or neck 3 3
C1859363 Abnormality of dental eruption phenotype Finding Abnormality of head or neck 1 1
C2032780 Palate fistula phenotype Finding Abnormality of head or neck 1 1
C4022680 Lagopthalmos disease Disease or Syndrome Abnormality of head or neck 1 1
C4025411 Midline defect of the nose disease Anatomical Abnormality Abnormality of head or neck 1 1
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 5 5