All terms in DOID

Label Id Description
autosomal dominant nocturnal frontal lobe epilepsy 4 DOID_0060685 [An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.]
autosomal dominant nocturnal frontal lobe epilepsy DOID_0060681 [A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.]
autosomal dominant nocturnal frontal lobe epilepsy 5 DOID_0060686 [An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.]
sesamoid bone UBERON_0001479
arteriovenous malformations of the brain DOID_0060688 [A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.]
atrichia with papular lesions DOID_0060689 [An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.]
alopecia DOID_987 [A hypotrichosis that is characterized by a loss of hair from the head or body.]
skeletal element UBERON_0004765
pigment dispersion syndrome DOID_0060680 [An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.]
eye disease DOID_5614 [An eye and adnexa disease that is located_in the eye.]
autosomal dominant nocturnal frontal lobe epilepsy 1 DOID_0060682 [An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.]
autosomal dominant nocturnal frontal lobe epilepsy 2 DOID_0060683 [An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24.]
Poaceae NCBITaxon_4479
Poales NCBITaxon_38820
autosomal dominant nocturnal frontal lobe epilepsy 3 DOID_0060684 [An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.]
neonatal diabetes mellitus with congenital hypothyroidism DOID_0060638 [A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.]
neonatal diabetes DOID_11717 [A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.]
permanent neonatal diabetes mellitus DOID_0060639 [A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.]
Trichomonas tenax NCBITaxon_43075
Trichomonas NCBITaxon_5721