Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0266122 Cleft uvula disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 2
C0432090 Cleft of hard palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 2
C0432098 Cleft Soft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 2
C0265268 Adams Oliver syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome syndrome 6
C0812437 Oculo-dento-digital syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome 4
C1608393 Megacystis microcolon intestinal hypoperistalsis syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome syndrome 4
C0039263 Takayasu Arteritis disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 3
C0265329 Organoid Nevus Phakomatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome 3
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 3
C0796004 Kabuki make-up syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality syndrome 3
C0796147 Acrocallosal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome syndrome 3
C2931760 Acrocallosal syndrome, Schinzel type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome syndrome 3
C0085261 Proteus Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Neoplastic Process syndrome 2
C0149910 Intermittent joint effusion disease Musculoskeletal Diseases Disease or Syndrome syndrome 2
C0175697 Van der Woude syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome 2
C0432198 Short rib-polydactyly syndrome, Beemer type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome syndrome 2
C0432253 Bruck syndrome disease Disease or Syndrome syndrome 2
C1836602 Bruck syndrome 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 2
C1846009 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome syndrome 2
C1848030 Hypotonia-Cystinuria Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 2
C1850168 Bruck syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 2
C1855722 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 2
C1865143 BRANCHIOOTIC SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome syndrome 2
C2678439 CRANIOOSTEOARTHROPATHY disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome syndrome 2
C3551443 ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT disease Disease or Syndrome syndrome 2