Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Streptophyta	NCBITaxon_35493
Human betaherpesvirus 6	NCBITaxon_10368
unclassified Roseolovirus	NCBITaxon_431037
primary autosomal recessive microcephaly 14	DOID_0070279	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.]
primary autosomal recessive microcephaly 15	DOID_0070277	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.]
primary autosomal recessive microcephaly 7	DOID_0070278	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.]
primary coenzyme Q10 deficiency 5	DOID_0070242	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ9 on chromosome 16q21.]
coenzyme Q10 deficiency disease	DOID_0050730	[A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.]
primary coenzyme Q10 deficiency 6	DOID_0070243	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3.]
primary coenzyme Q10 deficiency 3	DOID_0070240	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS2 on chromosome 6q21.]
primary coenzyme Q10 deficiency 4	DOID_0070241	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13.]
autosomal recessive Emery-Dreifuss muscular dystrophy 3	DOID_0070248	[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of LMNA on chromosome 1q22.]
Emery-Dreifuss muscular dystrophy	DOID_11726	[A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.]
autosomal dominant Emery-Dreifuss muscular dystrophy 4	DOID_0070249	[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2.]
Lophotrochozoa	NCBITaxon_1206795
X-linked Emery-Dreifuss muscular dystrophy 1	DOID_0070246	[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.]
autosomal dominant Emery-Dreifuss muscular dystrophy 2	DOID_0070247	[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22.]
Gnathostomata <vertebrates>	NCBITaxon_7776
Vertebrata <vertebrates>	NCBITaxon_7742
primary coenzyme Q10 deficiency 7	DOID_0070244	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ4 on chromosome 9q34.11.]