Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0028259 Nodule phenotype Acquired Abnormality 278 19
C0162810 Cicatrix, Hypertrophic disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 149 6
C1285498 Vegetation disease Anatomical Abnormality 67 0
C3278509 Spinal fusion disease Anatomical Abnormality Abnormality of the skeletal system 67 2
C0597984 Biliary stricture disease Digestive System Diseases Anatomical Abnormality 17 0
C4024719 Adrenocortical hypoplasia disease Anatomical Abnormality Abnormality of the endocrine system 2 0
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1261 77
C0175754 Agenesis 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 615 45
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 559 48
C0282160 Aplasia Cutis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument 393 14
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 384 96
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 337 40
C0043346 Xeroderma Pigmentosum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 137 35
C0079541 Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; physical disorder Abnormality of the nervous system 109 45
C0266362 Ambiguous Genitalia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality Abnormality of the genitourinary system 109 14
C0432474 Klinefelter's syndrome - male with more than two X chromosomes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5
C0432215 Progressive pseudorheumatoid dysplasia disease Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 64 27
C0268287 Deficiency of steroid 21-monooxygenase disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26
C2936858 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality genetic disease; disease of metabolism 50 62
C0220766 Congenital hypoplasia of adrenal gland disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality Abnormality of the endocrine system 45 13
C0796004 Kabuki make-up syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality syndrome 37 253
C4551596 Abnormal renal morphology disease Congenital Abnormality Abnormality of the genitourinary system 35 3
C4331029 Primary Pigmented Nodular Adrenal Dysplasia disease Congenital Abnormality 31 1
C0268353 Cutis laxa, x-linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of metabolism 22 10