Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 46 66
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 22 24
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 19 20
C0239676 High forehead phenotype Finding Abnormality of head or neck 14 17
C1306710 Facial asymmetry phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 10 13
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 9 9
C1866134 Wide anterior fontanel phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 6 5
C1837402 Flat occiput phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 5 6
C1865244 Shallow orbits phenotype Eye Diseases Finding Abnormality of head or neck; Abnormality of the eye; Abnormality of the skeletal system 4 4
C1856409 Dilation of lateral ventricles phenotype Finding Abnormality of the nervous system 4 3
C2931196 Craniofacial dysostosis type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 3 34
C1860245 Cranial asymmetry phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 3 3
C0001193 Apert syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome 1 14
C0584837 Choanal stenosis phenotype Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Finding Abnormality of head or neck 1 2
C1857484 Brachyturricephaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck; Abnormality of the skeletal system 1 2
C4023628 Mild fetal ventriculomegaly disease Anatomical Abnormality Abnormality of prenatal development or birth; Abnormality of the nervous system 1 1
C4023749 Abnormality of the zygomatic bone phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 1
C0549397 Deviated nasal septum phenotype Finding Abnormality of head or neck 1 1
C3280768 Abnormality of the posterior cranial fossa phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 1 1
C4020908 Hypointensity of cerebral white matter on MRI phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system 1 1