Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
variant_genome	SO_0001506	[A collection of sequences (often chromosomes) of an individual.]
obsolete acute pyelonephritis without lesion of renal medullary necrosis	DOID_558
sudden infant death syndrome	DOID_9007	[A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.]
assembly_error_correction	SO_0001525	[A region of sequence where the final nucleotide assignment differs from the original assembly due to an improvement that replaces a mistake.]
base_call_error_correction	SO_0001526	[A region of sequence where the final nucleotide assignment is different from that given by the base caller due to an improvement that replaces a mistake.]
inflammatory bowel disease 5	DOID_0110889	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31.]
nuclear_localization_signal	SO_0001528	[A polypeptide region that targets a polypeptide to the nucleus.]
gluten allergy	DOID_0060057	[A food allergy to wheat that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance.]
endosomal_localization_signal	SO_0001529	[A polypeptide region that targets a polypeptide to the endosome.]
popliteal pterygium syndrome	DOID_0060055	[A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.]
autonomic peripheral neuropathy	DOID_0060054	[A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence.]
susceptibility to autism 3	OMIM_608049
obsolete peripheral neuropathy	DOID_0060053	[A neuropathy that is located_in nerves of the peripheral nervous system.]
obsolete neurological disorder	DOID_0060052	[A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness.]
susceptibility to autism 6	OMIM_609378
holoprosencephaly 7	DOID_0110876	[A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.]
holoprosencephaly 11	DOID_0110877	[A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24.]
holoprosencephaly 6	DOID_0110874	[A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3.]
holoprosencephaly 3	DOID_0110875	[A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.]
obsolete malignant hypertensive heart disease	DOID_548