All terms in DOID

Label Id Description
rhizomelic chondrodysplasia punctata type 2 DOID_0110852 [A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.]
rhizomelic chondrodysplasia punctata type 3 DOID_0110853 [A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.]
xeroderma pigmentosum group B DOID_0110850 [A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14.]
acquired gastric outlet stenosis DOID_14099
uterine cervix leukoplakia DOID_9043 [A cervix disease that is characterized by the presence of a hyperkeratotic lesion.]
rhizomelic chondrodysplasia punctata type 1 DOID_0110851 [A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.]
polyp of corpus uteri DOID_9042
level_of_transcript_variant SO_0001540
obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb DOID_9041
decreased_transcript_level_variant SO_0001541
obsolete reticulosarcoma involving lymph nodes of head, face, and neck DOID_9040
increased_transcript_level_variant SO_0001542
bilateral hypoactive labyrinth DOID_565
parotid gland cancer DOID_9036 [A salivary gland cancer that is located_in the parotid gland.]
obsolete primary Fusobacteriaceae infectious disease DOID_563
obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb DOID_9033
polycystic kidney disease 1 DOID_0110858 [A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.]
polycystic kidney disease 2 DOID_0110859 [A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.]
obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck DOID_9039
posterior polymorphous corneal dystrophy 2 DOID_0110856 [A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.]