All terms in DOID

Label Id Description
Whipple disease DOID_8476
obsolete papillary cystic tumor DOID_7145
obsolete metastasis to adrenals DOID_12605
ectodermal dysplasia 6 DOID_0111659 [A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2.]
hypertrophic cardiomyopathy 25 DOID_0110328 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12.]
Langerhans cell sarcoma DOID_7146 [A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.]
obsolete malabsorption syndrome DOID_8477
obsolete secondary malignant neoplasm of suprarenal gland DOID_12604
Leber congenital amaurosis 6 DOID_0110329 [A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.]
obsolete metastatic parathyroid cancer DOID_7149
mold NCIT_C28266 [A very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne.]
hypertrophic cardiomyopathy 9 DOID_0110315 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.]
congenital lactase deficiency DOID_0111646 [A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.]
hypertrophic cardiomyopathy 10 DOID_0110316 [A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene.]
Schopf-Schulz-Passarge syndrome DOID_0111647 [An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35.]
acute gonococcal prostatitis DOID_13943
obsolete gastrointestinal hemorrhage of fetus or newborn DOID_12612
autosomal recessive nonsyndromic deafness 110 DOID_0111644 [An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12.]
hypertrophic cardiomyopathy 7 DOID_0110313 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.]
acute gonococcal salpingitis DOID_13942