All terms in DOID

Label Id Description
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.]
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.]
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 abnormalities 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.]
ovarian clear cell malignant adenofibroma DOID_6554 [An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.]
infertility DOID_5223
complex cortical dysplasia with other brain malformations 6 DOID_0090136 [A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21.]
gastric small cell carcinoma DOID_6552
acute necrotizing encephalitis DOID_5222
complex cortical dysplasia with other brain malformations 1 DOID_0090137 [A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.]
von Economo's disease DOID_5225
acute hemorrhagic encephalitis DOID_5224