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
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C0344482 Hypoplasia 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 43 49
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 26 25
C0025149 Medulloblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 18 80
C3553450 Profound global developmental delay disease Disease or Syndrome Abnormality of the nervous system 17 19
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 14 16
C0747085 Recurrent otitis media disease Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the ear 9 10
C0037315 Sleep Apnea Syndromes disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 8 13
C1578482 Valgus deformities of feet disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 7 7
C0017601 Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 6 5
C0410264 Contracture of tendo achilles disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 6 6
C0694550 Recurrent pneumonia disease Infections; Respiratory Tract Diseases Finding Abnormality of the immune system; Abnormality of the respiratory system 6 11
C1851085 Severe expressive language delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 6 7
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
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 5 5
C0266295 Congenital hypoplasia of kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of the genitourinary system 5 6
C0576093 Knee joint valgus deformity disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 5 5
C1847524 Hyperopic astigmatism disease Eye Diseases Disease or Syndrome Abnormality of the eye 5 5
C1857278 Partial or complete agenesis of corpus callosum disease Congenital Abnormality Abnormality of the nervous system 5 6