All terms in DOID

Label Id Description
geleophysic dysplasia DOID_0111724 [A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.]
amelogenesis imperfecta type 3C DOID_0111722 [An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.]
congenital symblepharon DOID_0111720 [An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia.]
extended_intronic_splice_region_variant SO_0001995
familial episodic pain syndrome 1 DOID_0111729 [A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13.]
geleophysic dysplasia 3 DOID_0111727 [A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1.]
geleophysic dysplasia 1 DOID_0111725 [A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.]
geleophysic dysplasia 2 DOID_0111726 [A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.]
obsolete parasitic stramenopiles infectious disease DOID_0050247 [A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms.]
granulomatous amebic encephalitis DOID_0050246 [A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.]
obsolete Brugia timori filariasis DOID_0050249 [A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.]
acquired polycythemia DOID_2834
polycythemia due to hypoxia DOID_2835
stress polycythemia DOID_2838
erythropoietin polycythemia DOID_2839
Leber hereditary optic neuropathy with demyelinating disease of CNS DOID_0111756 [A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.]
Leber plus disease DOID_0111754 [A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.]
dilated cardiomyopathy 1A DOID_0110425 [A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.]
Y-linked deafness DOID_0111757 [A nonsyndromic deafness characterized by a Y-lnked inheritance mode.]
dilated cardiomyopathy 1D DOID_0110426 [A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32.]