All terms in DOID

Label Id Description
peroxisomal acyl-CoA oxidase deficiency DOID_0050797 [A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.]
achalasia microcephaly syndrome DOID_0050796 [A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).]
hemangioma of lung DOID_490
obsolete mycosis fungoides involving intra-abdominal lymph nodes DOID_9109
guanidinoacetate methyltransferase deficiency DOID_0050799 [A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.]
cerebral creatine deficiency syndrome DOID_0050798 [An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.]
susceptibility to legionnaire disease MIM_608556
sclerosing hemangioma DOID_495
acquired hemangioma DOID_492
obsolete Opitz-GBBB syndrome DOID_0050780 [A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.]
Zollinger-Ellison syndrome DOID_0050782 [A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.]
Ogden syndrome DOID_0050781 [A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.]
primary progressive multiple sclerosis DOID_0050784 [A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.]
secondary progressive multiple sclerosis DOID_0050783 [A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.]
cartilage cancer DOID_0060102 [A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.]
obsolete malignant bone vascular tumor DOID_488
glomeruloid hemangioma DOID_486
cutaneous leishmaniasis DOID_9111 [A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.]
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving spleen DOID_9117
hydroxy steroid CHEBI_35350