Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0399372 Amelogenesis Imperfecta hypomaturation type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 7
C0399367 Amelogenesis imperfecta local hypoplastic form disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 6
C1960883 Spina bifida aperta of cervical spine disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 5
C0266551 Congenital coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 5
C0344559 Irido-corneo-trabecular dysgenesis (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 5
C0345427 Woolly hair, congenital disease Skin and Connective Tissue Diseases Congenital Abnormality 5
C0546264 Congenital Fiber Type Disproportion disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 5
C0749420 Thyroid Agenesis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the endocrine system 5
C4708599 Coloboma of choroid and retina disease Congenital Abnormality 5
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 4
C0020302 Hydrophthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 4
C0149630 Bicuspid aortic valve disease Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 4
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 4
C0265529 Plagiocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 4
C0282160 Aplasia Cutis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument 4
C0311338 Fundus Albipunctatus disease Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 4
C0344516 Coloboma of lens disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 4
C0344523 Cataract, congenital, cerulean type 1 disease Eye Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 4
C0344735 Partial atrioventricular canal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 4
C0546966 Monilethrix disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 4
C0812437 Oculo-dento-digital syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome 4
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 4
C1298692 Cleft lip and alveolus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 4
C1318518 Infantile malignant osteopetrosis disease Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 4