Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal dominant non-syndromic intellectual disability 29	DOID_0070059	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3.]
one_two_prime_O_dimethylguanosine	SO_0001340	[1_2prime_O_dimethylguanosine is a modified guanosine base feature.]
autosomal dominant non-syndromic intellectual disability 27	DOID_0070057	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2.]
Helsmoortel-Van Der Aa Syndrome	DOID_0070058	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13.]
autosomal recessive dyskeratosis congenita 5	DOID_0070022	[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33.]
dyskeratosis congenita	DOID_2729	[A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.]
autosomal dominant dyskeratosis congenita 6	DOID_0070023	[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1.]
N2_2_prime_O_dimethylguanosine	SO_0001329	[N2_2prime_O_dimethylguanosine is a modified guanosine base feature.]
autosomal dominant dyskeratosis congenita 4	DOID_0070020	[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.]
N2_N2_dimethylguanosine	SO_0001328	[N2_N2_dimethylguanosine is a modified guanosine base feature.]
autosomal recessive dyskeratosis congenita 4	DOID_0070021	[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33.]
two_prime_O_methylguanosine	SO_0001327	[2prime_O_methylguanosine is a modified guanosine base feature.]
seven_methylguanosine	SO_0001326	[7_methylguanosine is a modified guanosine base feature.]
N2_methylguanosine	SO_0001325	[N2_methylguanosine is a modified guanosine base feature.]
one_methylguanosine	SO_0001324	[1_methylguanosine is a modified guanosine base feature.]
archaeosine	SO_0001323	[Archaeosine is a modified 7-deazoguanosine.]
seven_deazaguanosine	SO_0001316	[7-deazaguanosine is a modified guanosine.]
peroxywybutosine	SO_0001333	[Peroxywybutosine is a modified guanosine base feature.]
region	SO_0000001	[A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids.]
sequence_feature	SO_0000110	[Any extent of continuous biological sequence.]