Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 88 257
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 33 50
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 25 28
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 18
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 18 25
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 16 17
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 13 17
C0024433 Macrostomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 10 11
C1844813 Widely spaced teeth phenotype Finding Abnormality of head or neck 10 10
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 9 9
C1840069 Sandal gap phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 6 6
C4023116 Hypoplastic fifth toenail disease Anatomical Abnormality Abnormality of the integument 4 4
C3281201 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; syndrome; disease of mental health 3 61
C0277960 Dry hair phenotype Finding Abnormality of the integument 2 2
C0240340 Microdontia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 1 1
C0266324 Congenital dilatation of ureter disease Congenital Abnormality Abnormality of the genitourinary system 1 1
C0020517 Hypersensitivity group Immune System Diseases Pathologic Function disease of anatomical entity Abnormality of the immune system 1 1