Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4749147 NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4748435 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V disease Disease or Syndrome disease of anatomical entity 1
C4747737 RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4747658 SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC disease Disease or Syndrome genetic disease 1
C4746986 ALPORT SYNDROME 1, X-LINKED disease Disease or Syndrome genetic disease 1
C4746745 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease 3
C4721890 CATARACT 2, MULTIPLE TYPES disease Disease or Syndrome genetic disease; disease of anatomical entity 2
C4721887 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4721437 Charcot-Marie-Tooth disease, Type 4E disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4721436 NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4707825 X-linked cleft palate and ankyloglossia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality genetic disease; syndrome; physical disorder 1
C4693974 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC disease Disease or Syndrome genetic disease; disease of metabolism 1
C4692564 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 disease Disease or Syndrome genetic disease; disease of metabolism 2
C4552089 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME disease Disease or Syndrome genetic disease; disease of metabolism 1
C4552043 Cortical dysplasia with focal epilepsy syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4552030 Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 1
C4551998 Porencephaly, Type 1, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4551992 ANTERIOR SEGMENT DYSGENESIS 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C4551977 Microphthalmos, Autosomal Recessive disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4551971 Albers-Schonberg Disease, Autosomal Recessive disease Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C4551957 Epilepsy, Familial Temporal Lobe 1 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity 1
C4551906 Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 1
C4551895 Familial Cold Autoinflammatory Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4551856 Asphyxiating Thoracic Dystrophy 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality genetic disease 1
C4551826 Symphalangism-brachydactyly syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 2