All terms in DOID

Label Id Description
metachondromatosis DOID_0111512 [An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.]
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome DOID_0111513 [An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.]
obsolete recurrent endometrial cancer DOID_8382
esophageal basaloid squamous cell carcinoma DOID_7051
Marshall syndrome DOID_0111510 [An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.]
melanoma and neural system tumor syndrome DOID_0111511 [A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.]
thymus basaloid carcinoma DOID_7050
obsolete ectopic calcitonin production DOID_8381
Phialophora verrucosa NCBITaxon_39412
basaloid lung carcinoma DOID_7045
obsolete mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis DOID_8376
ciliary body epithelioid cell melanoma DOID_7042
uveal epithelioid cell melanoma DOID_7040
obsolete metastatic vulvar cancer DOID_7043
vulvar basaloid squamous cell carcinoma DOID_7048 [A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm.]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 DOID_0111518 [A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.]
basaloid squamous cell skin carcinoma DOID_7049
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 DOID_0111519 [A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.]
cervical basaloid squamous cell carcinoma DOID_7046 [A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm.]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 DOID_0111516 [A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.]