Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
N6_glycinylcarbamoyladenosine	SO_0001304	[N6_glycinylcarbamoyladenosine is a modified adenosine.]
schizophrenia 9	DOID_0070085	[A schizophrenia that has_material_basis_in a mutation of DISC1 on chromosome 1q42.2.]
two_methylthio_N6_cis_hydroxyisopentenyl_adenosine	SO_0001303	[2_methylthio_N6_cis_hydroxyisopentenyl_adenosine is a modified adenosine.]
schizophrenia 6	DOID_0070082	[A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD6 on chromosome 8p21.]
N6_cis_hydroxyisopentenyl_adenosine	SO_0001302	[N6_cis_hydroxyisopentenyl_adenosine is a modified adenosine.]
schizophrenia 7	DOID_0070083	[A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD7 on chromosome 13q32.]
two_methylthio_N6_isopentenyladenosine	SO_0001301	[2_methylthio_N6_isopentenyladenosine is a modified adenosine.]
N6_N6_dimethyladenosine	SO_0001311	[N6_N6_dimethyladenosine is a modified adenosine.]
two_prime_O_ribosyladenosine_phosphate	SO_0001310	[2prime_O_ribosyladenosine_phosphate is a modified adenosine.]
schizophrenia 15	DOID_0070091	[A schizophrenia that has_material_basis_in a mutation of SHANK3 on chromosome 22q13.33.]
schizophrenia 16	DOID_0070092	[A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3.]
schizophrenia 14	DOID_0070090	[A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1.]
Hernia	HP_0100790
oculocutaneous albinism type V	DOID_0070099	[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA5 on chromosome 4q24.]
oculocutaneous albinism type III	DOID_0070097	[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of TYRP1 on chromosome 9p23.]
oculocutaneous albinism type IV	DOID_0070098	[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2.]
oculocutaneous albinism type IB	DOID_0070095	[An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.]
oculocutaneous albinism type II	DOID_0070096	[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13.]
Neoplasm of the middle ear	HP_0100799	[A tumor (abnormal growth of tissue) of the middle ear.]
Abnormality of the middle ear	HP_0000370	[An abnormality of the middle ear.]