Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
oculocutaneous albinism type VII	DOID_0070100	[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.]
oculocutaneous albinism	DOID_0050632	[A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.]
vena cava	UBERON_0004087
obsolete Noonan syndrome 7	DOID_0070107	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of BRAF on chromosome 7q34.]
obsolete Noonan syndrome 8	DOID_0070108	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RIT1 on chromosome 1q22.]
obsolete Noonan syndrome 5	DOID_0070105	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RAF1 on chromosome 3p25.2.]
obsolete Noonan syndrome 6	DOID_0070106	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of NRAS on chromosome 1p13.2.]
olfactory nerve	UBERON_0001579
obsolete Noonan syndrome 3	DOID_0070103	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of KRAS on chromosome 12p12.1.]
obsolete Noonan syndrome 4	DOID_0070104	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS1 on chromosome 2p22.1.]
obsolete Noonan syndrome 1	DOID_0070101	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of PTPN11 on chromosome 12q24.13.]
obsolete Noonan syndrome 2	DOID_0070102	[A Noonan syndrome that has_material_basis_in an autosomal recessive mutation.]
Dilatation	HP_0002617	[Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.]
obsolete Noonan syndrome 9	DOID_0070109	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS2 on chromosome 14q21.3.]
obsolete Noonan syndrome 10	DOID_0070110	[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of LZTR1 on chromosome 22q11.21.]
Niemann-Pick disease type A	DOID_0070111	[A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.]
Niemann-Pick disease	DOID_14504	[A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.]
Meckel syndrome 4	DOID_0070118	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.]
Meckel syndrome 5	DOID_0070119	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2.]
Meckel syndrome 2	DOID_0070116	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2.]