All terms in DOID

Label Id Description
endometrial stromal sarcoma DOID_4226 [An endometrial stromal tumor that has_material_basis_in connective tissue.]
testicular germ cell cancer DOID_5557 [A testicular cancer that has_material_basis_in germ cells.]
ureter small cell carcinoma DOID_6886
obsolete stromal sarcoma DOID_4228
uterine corpus endometrial stromal sarcoma DOID_4227 [A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining.]
glucocorticoid deficiency 1 DOID_0080621 [A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.]
familial glucocorticoid deficiency DOID_0080620 [An adrenal cortex disease that is characterized by insufficient production of glucocorticoids.]
lacrimal gland squamous cell carcinoma DOID_5529 [A squamous cell carcinoma that is located_in the lacrimal gland.]
lacrimal gland carcinoma DOID_293
peroxisome biogenesis disorder 2B DOID_0080622 [A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.]
Heimler syndrome 1 DOID_0080623 [A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.]
Heimler syndrome 2 DOID_0080624 [A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.]
adrenal gland disease DOID_9553 [An endocrine system disease that is located_in the adrenal gland.]
alopecia-mental retardation syndrome 2 DOID_0080629 [An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31.]
alopecia-mental retardation syndrome DOID_0080627 [A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability.]
severe congenital neutropenia 1 DOID_0080625 [A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.]
severe congenital neutropenia DOID_0050590 [A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.]
corticosterone methyloxidase deficiency 1 DOID_0080626 [An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.]
alopecia-mental retardation syndrome 1 DOID_0080628 [An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27.]
obsolete hamartoma of Eccrine Sweat gland DOID_6850