Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Aconoidasida	NCBITaxon_422676
Apicomplexa	NCBITaxon_5794
obsolete anterior segment mesenchymal dysgenesis	DOID_0060605	[An eye disease that is characterized by impaired development of the anterior segment of the eye.]
fetal nicotine spectrum disorder	DOID_0060606	[A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.]
specific developmental disorder	DOID_0060038	[A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.]
microcephalic osteodysplastic primordial dwarfism type I	DOID_0060608	[A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.]
microcephalic osteodysplastic primordial dwarfism type II	DOID_0060609	[A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.]
Progressive neurologic deterioration	HP_0002344
Mental deterioration	HP_0001268	[Loss of previously present mental abilities, generally in adults.]
obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	DOID_0060600
Hypopigmentation of the skin	HP_0001010	[A reduction of skin color related to a decrease in melanin production and deposition.]
alpha-2-plasmin inhibitor deficiency	DOID_0060601	[A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.]
hemorrhagic disease	DOID_2213
bleeding	SYMP_0000007	[A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels.]
alpha-methylacyl-CoA racemase deficiency	DOID_0060602	[A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.]
peroxisomal disease	DOID_906	[An inherited metabolic disorder that involves peroxisome malfunction.]
isolated anhidrosis with normal sweat glands	DOID_0060603	[An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11.]
anhidrosis	DOID_11156	[A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.]
ankyloglossia	DOID_0060604	[A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.]
tongue disease	DOID_10944