All terms in DOID

Label Id Description
Joubert syndrome 5 DOID_0111000 [A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.]
pontocerebellar hypoplasia type 13 DOID_0112332 [A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1.]
susceptibility to basal cell carcinoma 2 MIM_613058
pontocerebellar hypoplasia type 1F DOID_0112331 [A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1.]
Joubert syndrome 6 DOID_0111001 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.]
susceptibility to basal cell carcinoma 3 MIM_613059
pontocerebellar hypoplasia type 1E DOID_0112330 [A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.]
esophagogastric junction UBERON_0007650
digestive tract junction UBERON_1100000
X-linked cone-rod dystrophy 1 DOID_0111008 [A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.]
Tatton-Brown-Rahman syndrome DOID_0112339 [A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3.]
cone-rod dystrophy 1 DOID_0111009 [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3.]
amebiasis DOID_9181 [A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.]
spermatogenic failure 57 DOID_0112338 [A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3.]
X-linked cone-rod dystrophy 2 DOID_0111006 [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27.]
obsolete amebic colitis DOID_9180 [An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon.]
X-linked cone-rod dystrophy 3 DOID_0111007 [A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.]
spermatogenic failure 55 DOID_0112337 [A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12.]
4-vinylcyclohexene dioxide CHEBI_59001
spermatogenic failure 56 DOID_0112336 [A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31.]