Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 15 16
C1868571 Highly arched eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 15 14
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 14 16
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
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
C1865916 Bilateral ptosis phenotype Eye Diseases Finding Abnormality of the eye 11 14
C0240379 Open mouth (finding) phenotype Finding Abnormality of head or neck 10 11
C1855728 Low posterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 10 11
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9 24
C1859461 Femoral bowing phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 9 13
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
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11
C0423318 Heterochromia iridis phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Finding Abnormality of the eye 7 10
C4022919 Appendicular hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 7 8
C1578482 Valgus deformities of feet disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 7 7
C4023808 Hyperextensibility at elbow phenotype Anatomical Abnormality Abnormality of the skeletal system 7 7
C4310809 ANTERIOR SEGMENT DYSGENESIS 5 disease Disease or Syndrome disease of anatomical entity 6 31
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
C0023221 Leg Length Inequality phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Growth abnormality 6 6
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