Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
gliosarcoma	DOID_3071
obsolete secondary glioblastoma multiforme	DOID_3072
brain glioblastoma multiforme	DOID_3073	[A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.]
giant cell glioblastoma	DOID_3074	[A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells.]
adult astrocytic tumour	DOID_3076
obsolete anaplastic childhood astrocytoma	DOID_3077
grade III astrocytoma	DOID_3078	[An astrocytoma that is characterized by cells with regular, round to oval nuclei.]
ethylmalonic encephalopathy	DOID_0060640	[A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.]
juvenile astrocytoma	DOID_3079
Abnormal macular morphology	HP_0001103	[A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.]
Abnormal retinal morphology	HP_0000479	[A structural abnormality of the retina.]
autosomal recessive congenital ichthyosis 6	DOID_0060715	[An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.]
autosomal recessive congenital ichthyosis 7	DOID_0060716	[An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1.]
autosomal recessive congenital ichthyosis 8	DOID_0060717	[An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.]
autosomal recessive congenital ichthyosis 9	DOID_0060718	[An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.]
autosomal recessive congenital ichthyosis 10	DOID_0060719	[An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.]
autosomal recessive congenital ichthyosis 2	DOID_0060710	[An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.]
autosomal recessive congenital ichthyosis 3	DOID_0060711	[An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.]
autosomal recessive congenital ichthyosis 4A	DOID_0060712	[An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35.]
autosomal recessive congenital ichthyosis 4B	DOID_0060713	[An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.]