All terms in DOID

Label Id Description
partial trisomy distal 4q DOID_0111159 [A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.]
Greig cephalopolysyndactyly syndrome DOID_14761 [An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.]
spermatogenic failure 9 DOID_0111156 [A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.]
calcaneonavicular coalition DOID_14762 [A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.]
Cladophialophora carrionii NCBITaxon_86049
obsolete vitamin A deficiency with xerophthalmic corneal scar DOID_12111
brittle cornea syndrome 1 DOID_14775 [An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.]
preterm premature rupture of the membranes DOID_0111144 [A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.]
delayed sleep phase syndrome DOID_0111141 [A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.]
benign familial neonatal epilepsy DOID_14777
neonatal period electroclinical syndrome DOID_0050702 [An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.]
oligomeganephronia DOID_0111142 [A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons.]
blepharophimosis, ptosis, and epicanthus inversus syndrome DOID_14778 [A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3.]
IGSF1 deficiency syndrome DOID_0111140 [A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.]
hemosiderosis DOID_12119 [An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.]
pulmonary hemosiderosis DOID_12118 [A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.]
posterior corneal pigmentation DOID_13448
pulmonary alveolar microlithiasis DOID_12117 [A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.]
autosomal recessive isolated ectopia lentis 2 DOID_0111149 [An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.]
corneal argyrosis DOID_13447