All terms in DOID

Label Id Description
hypermethioninemia due to adenosine kinase deficiency DOID_0111038 [A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.]
Coffin-Siris syndrome 5 DOID_0112368 [A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2.]
Coffin-Siris syndrome 8 DOID_0112367 [A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13.]
CADASIL 1 DOID_0111035 [A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.]
CADASIL DOID_13945 [A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.]
CADASIL 2 DOID_0111036 [A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26.]
dermal bone UBERON_0008907
dermal skeletal element UBERON_0004756
obsolete lower limb lymph node mast cell malignancy DOID_13319
cone-rod dystrophy 16 DOID_0111022 [A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.]
spermatogenic failure 65 DOID_0112354 [A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4.]
spermatogenic failure 64 DOID_0112353 [A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2.]
cone-rod dystrophy 17 DOID_0111023 [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26.]
prostatitis DOID_14654
spermatogenic failure 58 DOID_0112352 [A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2.]
cone-rod dystrophy 9 DOID_0111020 [A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.]
cone-rod dystrophy 15 DOID_0111021 [A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.]
spermatogenic failure 62 DOID_0112351 [A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3.]
spermatogenic failure 61 DOID_0112350 [A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1.]
toxic optic neuropathy DOID_13329