All terms in DOID

Label Id Description
mitochondrial complex III deficiency nuclear type 3 DOID_0080112 [A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.]
neurodevelopmental disorder with poor growth and behavioral abnormalities DOID_0081444 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13.]
mitochondrial complex III deficiency nuclear type 4 DOID_0080113 [A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.]
mitochondrial complex III deficiency nuclear type 5 DOID_0080114 [A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.]
blood protein disease DOID_620
obsolete Vasa previa DOID_10279
obsolete Pseudomonas intestinal infectious disease DOID_10277 [A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.]
mitochondrial DNA depletion syndrome 1 DOID_0080119 [A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13.]
obsolete Vasa previa complicating labor and delivery DOID_10278
obsolete recurrent uterine sarcoma DOID_7793 [A uterine Corpus sarcoma that has recurred after it has been treated.]
large intestine lipoma DOID_6460 [An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine.]
obsolete skin tumor of smooth muscle origin DOID_5133
leiomyoma cutis DOID_5132
anus leiomyoma DOID_5134 [A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus.]
ovarian mucinous adenofibroma DOID_6469 [An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.]
pericardium leiomyoma DOID_5137 [A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium.]
cardiovascular organ benign neoplasm DOID_0060091 [An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.]
lung leiomyoma DOID_5136 [A lung benign neoplasm that derives_from some smooth muscle cell.]
obsolete bone recurrent Ewing's sarcoma DOID_6467
cellular leiomyoma DOID_5139 [A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures.]