All terms in DOID

Label Id Description
isoniazide allergy DOID_0040008 [A drug allergy that has_allergic_trigger isoniazide.]
astroblastoma, MN1-altered DOID_0080904 [An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.]
astroblastoma DOID_7305 [A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.]
myofibrillar myopathy 10 DOID_0112108 [A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23.]
cellular congenital mesoblastic nephroma DOID_8082
abacavir allergy DOID_0040007 [A drug allergy that has_allergic_trigger abacavir.]
central nervous system neuroblastoma DOID_0080905 [A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres.]
McLeod syndrome DOID_0112107 [A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.]
neuroacanthocytosis DOID_0050765 [A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.]
carbamazepine allergy DOID_0040006 [A drug allergy that has_allergic_trigger carbamazepine.]
CNS neuroblastoma with FOXR2 activation DOID_0080906 [A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.]
lymphatic part of lymphoid system UBERON_0006558
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia DOID_0112106 [A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23.]
obsolete ovarian mucinous cystic tumor associated with pseudomyxoma peritonei DOID_8080
ceftriaxone allergy DOID_0040005 [A cephalosporin allergy that has_allergic_trigger ceftriaxone.]
Cockayne syndrome A DOID_0080907 [A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.]
Cockayne syndrome DOID_2962 [A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.]
X-linked parkinsonism-spasticity syndrome DOID_0112105 [A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4.]
oral rhabdomyosarcoma DOID_0080900 [A rhabdomyosarcoma located in the oral cavity.]
Sotos syndrome 3 DOID_0112104 [A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.]