Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1837756 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1
C4025739 Acroosteolysis of distal phalanges (feet) disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C1837763 Decreased adipose tissue around neck phenotype Finding Abnormality of the integument; Abnormality of connective tissue 2
C0270254 Hydrops of placenta disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Abnormality of prenatal development or birth 2
C0406585 Lethal tight skin contracture syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C4021829 Narrow nail phenotype Anatomical Abnormality Abnormality of the integument 2
C0426433 Pinched nasal tip phenotype Finding Abnormality of head or neck 2
C2931375 Temporomandibular ankylosis disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the skeletal system 2
C1844618 Aplasia/Hypoplastia of the eccrine sweat glands disease Anatomical Abnormality Abnormality of the integument 3
C4025270 Arteriosclerosis of small cerebral arteries disease Cardiovascular Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the cardiovascular system 3
C1848773 Epidermal hyperkeratosis phenotype Finding Abnormality of the integument 3
C1848760 Increased anterioposterior diameter of thorax phenotype Finding Abnormality of the skeletal system 3
C1835384 Loss of truncal subcutaneous adipose tissue phenotype Finding Abnormality of connective tissue 3
C1837757 Progressive clavicular acroosteolysis phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 3
C4476724 Abnormal cellular phenotype phenotype Cell or Molecular Dysfunction Abnormal cellular phenotype 4
C0007282 Carotid Stenosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 4
C0566693 Large placenta phenotype Finding Abnormality of prenatal development or birth 4
C1849547 Osteolytic defects of the distal phalanges of the hand phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 4
C1848769 Overtubulated long bones phenotype Finding Abnormality of the skeletal system 4
C1851808 Premature delivery because of cervical insufficiency or membrane fragility phenotype Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 4
C1848771 Prominent superficial blood vessels phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument; Abnormality of the cardiovascular system 4
C4023402 Regional abnormality of skin disease Anatomical Abnormality Abnormality of the integument 4
C0456103 Sepsis of the newborn disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome Abnormality of the immune system 4
C0266786 Short cord phenotype Finding Abnormality of prenatal development or birth 4
C4025078 Tapering pointed ends of distal finger phalanges disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4