All terms in DOID

Label Id Description
intervertebral cartilage UBERON_0011135
Leptospira NCBITaxon_171
Leptospiraceae NCBITaxon_170
Leptospirales NCBITaxon_1643688
Hermansky-Pudlak syndrome 4 DOID_0060542 [A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.]
Hermansky-Pudlak syndrome DOID_3753 [A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.]
Hermansky-Pudlak syndrome 5 DOID_0060543 [A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.]
Hermansky-Pudlak syndrome 6 DOID_0060544 [A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.]
epithelium UBERON_0000483
tissue UBERON_0000479
Hermansky-Pudlak syndrome 7 DOID_0060545 [A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.]
Hermansky-Pudlak syndrome 8 DOID_0060546 [A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.]
cavitated compound organ UBERON_0000489
compound organ UBERON_0003103
Hermansky-Pudlak syndrome 9 DOID_0060547 [A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.]
luminal breast carcinoma A DOID_0060548 [A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.]
breast carcinoma DOID_3459 [A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
simple squamous epithelium UBERON_0000487
unilaminar epithelium UBERON_0000490
squamous epithelium UBERON_0006914