All terms in DOID

Label Id Description
obsolete cellular blue nevus DOID_5227
obsolete hamartoma of Spinal Cord DOID_6556
obsolete vaginal blue nevus DOID_5226
obsolete common blue nevus DOID_5228
ethmoid sinus Schneiderian papilloma DOID_6559
hereditary neutrophilia DOID_0090120 [A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.]
testicular spermatocytic seminoma DOID_7891
aromatic L-amino acid decarboxylase deficiency DOID_0090123 [An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.]
obsolete breast adenohibernoma DOID_7892
neurogenic-type arthrogryposis multiplex congenita-2 DOID_0090124 [An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.]
hepatoerythropoietic porphyria DOID_5230
obsolete apparent mineralocorticoid excess DOID_0090121 [An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.]
obsolete testicular spermatocytic seminoma with sarcoma DOID_7890
aromatase excess syndrome DOID_0090122 [A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.]
neurilemmoma of the pleura DOID_6564
aortic valve prolapse DOID_5232
Eubrachyura NCBITaxon_116704
camptodactyly-arthropathy-coxa vara-pericarditis syndrome DOID_0090127 [A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31.]
obsolete peritoneal and retroperitoneal tumors DOID_5231
Carvajal syndrome DOID_0090128 [A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.]