Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Abnormality of the cerebral subcortex	HP_0010993	[An abnormality of the cerebral subcortex.]
Spinocerebellar tract degeneration	HP_0002503
Abnormality of the spinocerebellar tracts	HP_0003133	[An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.]
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.]
brain	UBERON_0000955
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 mellitus characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life; it has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.]