Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
conventional leiomyosarcoma	DOID_5253	[A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma.]
invasive tubular breast carcinoma	DOID_6587	[A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.]
CINCA Syndrome	DOID_0090029	[An autoimmune hypersensitivity disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.]
split hand-foot malformation 6	DOID_0090026	[A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.]
oncocytic breast carcinoma	DOID_6585	[A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria.]
obsolete leiomyosarcoma nonmetastatic	DOID_5255
split hand-foot malformation 2	DOID_0090027	[A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.]
granular cell leiomyosarcoma	DOID_5258	[A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm.]
colon leiomyosarcoma	DOID_5259	[A leiomyosarcoma and sarcoma of colon that is located_in the colon.]
susceptibility to aspergillosis	OMIM_614079
aspergillosis	DOID_13564	[An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.]
cortical dysplasia-focal epilepsy syndrome	DOID_0090130	[A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.]
complex cortical dysplasia with other brain malformations	DOID_0090131	[A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.]
luteoma	DOID_7880	[An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.]
complex cortical dysplasia with other brain malformations 3	DOID_0090134	[A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.]
complex cortical dysplasia with other brain malformations 5	DOID_0090135	[A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25.]
complex cortical dysplasia with other brain malformations 7	DOID_0090132	[A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.]
complex cortical dysplasia with other brain malformations 2	DOID_0090133	[A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.]
posterior foramen magnum meningioma	DOID_6553
complex cortical dysplasia with other brain malformations 4	DOID_0090138	[A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21.]