All terms in DOID

Label Id Description
Joubert syndrome 9 DOID_0111004 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.]
obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb DOID_9186
cone-rod dystrophy 2 DOID_0111005 [A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.]
spermatogenic failure 54 DOID_0112335 [A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35.]
pontocerebellar hypoplasia type 1C DOID_0112334 [A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3.]
Joubert syndrome 7 DOID_0111002 [A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.]
obsolete sleep arousal disorder DOID_9184
Joubert syndrome 8 DOID_0111003 [A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.]
pontocerebellar hypoplasia type 16 DOID_0112333 [A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.]
saturated organic heterocyclic parent CHEBI_36388
heterocyclic organic fundamental parent CHEBI_35552
Henipavirus NCBITaxon_260964
Corynebacterium diphtheriae NCBITaxon_1717
Corynebacterium NCBITaxon_1716
Corynebacteriaceae NCBITaxon_1653
thiazoles CHEBI_48901
Rodentia NCBITaxon_9989
thalamic neoplasm DOID_6098
pyridines CHEBI_26421
obsolete spinal cord secondary cancer DOID_6080