Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1292769 Precursor B-cell lymphoblastic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21
C0392557 Nuclear cataract disease Eye Diseases Disease or Syndrome Abnormality of the eye 18
C1112705 Nuclear non-senile cataract disease Eye Diseases Disease or Syndrome 18
C0431362 Lobar Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 15
C0751617 Semilobar Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 15
C0282525 Adrenoleukodystrophy, Neonatal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13
C2931092 Maternally Inherited Leigh Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11
C4510744 46,XY partial gonadal dysgenesis disease Disease or Syndrome 11
C0158646 Cleft palate with cleft lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 9
C0266642 Situs ambiguus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality Growth abnormality 9
C0431406 Asymmetric crying face association disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck 9
C0751884 Congenital Myasthenic Syndromes, Presynaptic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9
C1167664 Situs ambiguous disease Congenital Abnormality 9
C2936346 22q11 Deletion Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 9
C3266101 22q11 partial monosomy syndrome disease Disease or Syndrome 9
C4011788 Behavioral variant of frontotemporal dementia disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 9
C0266294 Unilateral agenesis of kidney disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 8
C0457133 Muscle eye brain disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 8
C0751706 Primary Progressive Nonfluent Aphasia disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 8
C0858617 Posterior subcapsular cataract disease Eye Diseases Disease or Syndrome Abnormality of the eye 8
C1507149 Partial chromosome Y deletion phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Cell or Molecular Dysfunction 8
C1701939 Familial pulmonary arterial hypertension disease Disease or Syndrome 8
C1832241 Agammaglobulinemia, non-Bruton type disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 8
C1861829 Cataract microcornea syndrome disease Eye Diseases Disease or Syndrome 8
C2931163 Male sterility due to Y-chromosome deletions phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8