Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4757950 Isolated ATP synthase deficiency disease Disease or Syndrome genetic disease; disease of metabolism 1
C4751232 Rare isolated myopia disease Disease or Syndrome 1
C4750718 Cyclin-dependent kinase-like 5 deficiency disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1
C4749367 Mesial temporal lobe epilepsy with hippocampal sclerosis disease Nervous System Diseases Disease or Syndrome 2
C4749139 MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC disease Disease or Syndrome 1
C4749136 CPT1A ARCTIC VARIANT phenotype Finding 1
C4749123 ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS disease Disease or Syndrome 2
C4749062 BOMBAY PHENOTYPE, DIGENIC phenotype Finding 1
C4749059 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC disease Disease or Syndrome 3
C4749056 MACRODACTYLY, SOMATIC disease Congenital Abnormality 1
C4749053 MASTOCYTOSIS, SYSTEMIC, SOMATIC disease Disease or Syndrome 1
C4749033 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 disease Disease or Syndrome 1
C4749023 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 disease Disease or Syndrome 2
C4749019 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 disease Disease or Syndrome 1
C4749014 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA disease Disease or Syndrome 1
C4749003 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT disease Disease or Syndrome 1
C4748993 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT disease Disease or Syndrome 1
C4748988 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 disease Disease or Syndrome 1
C4748969 HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4748952 Hepatopulmonary fusion phenotype Finding 1
C4748946 CARDIAC-UROGENITAL SYNDROME disease Disease or Syndrome 2
C4748940 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G disease Disease or Syndrome 1
C4748939 FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS disease Disease or Syndrome 1
C4748934 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY disease Disease or Syndrome 1
C4748930 HYPOTRICHOSIS 14 disease Disease or Syndrome disease of anatomical entity 1