All terms in DOID

Label Id Description
lymphoproliferative syndrome 2 DOID_0060708 [A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.]
familial hypocalciuric hypercalcemia 1 DOID_0060700 [A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.]
familial hypocalciuric hypercalcemia 2 DOID_0060701 [A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.]
familial hypocalciuric hypercalcemia 3 DOID_0060702 [A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.]
Boreoeutheria NCBITaxon_1437010
Eutheria NCBITaxon_9347
Muenke Syndrome DOID_0060703 [A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.]
craniosynostosis DOID_2340 [A synostosis that results_in premature fusion located_in skull.]
obsolete conventional alveolar rhabdomyosarcoma DOID_4381
obsolete solid alveolar rhabdomyosarcoma DOID_4383
Balkan nephropathy DOID_3052 [An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.]
interstitial nephritis DOID_1063
papillary squamous carcinoma DOID_4385 [A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.]
orbit alveolar rhabdomyosarcoma DOID_4384 [An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.]
Giardia intestinalis NCBITaxon_5741
Giardia NCBITaxon_5740
paratyphoid fever DOID_3055 [A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.]
obsolete recurrent peripheral primitive neuroectodermal tumor DOID_4387
myofibroma DOID_4386
obsolete Paramyxoviridae infectious disease DOID_3056 [A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses.]