All terms in DOID

Label Id Description
obsolete commensal Actinomycetales infectious disease DOID_0050342 [A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora.]
obsolete opportunistic Actinomycetales infectious disease DOID_0050341
spontaneous tension pneumothorax DOID_1672 [A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath.]
obsolete commensal Bifidobacteriaceae infectious disease DOID_0050344
obsolete Gardnerella vaginalis vaginosis DOID_0050343
Behcet's syndrome arthropathy DOID_1670
CHILD syndrome DOID_0111822 [A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28.]
autosomal hemophilia A DOID_0111823 [A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency.]
susceptibility to nasopharyngeal carcinoma 3 MIM_617075
zygodactyly 1 DOID_0111820 [A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement.]
ichthyosis follicularis-alopecia-photophobia syndrome 1 DOID_0111821 [A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.]
TFBS_ablation SO_0001895
regulatory_region_ablation SO_0001894
X-linked hereditary ataxia DOID_0050953 [A hereditary ataxia that is characterized by X-linked inheritance.]
X-linked spinocerebellar ataxia 1 DOID_0111829 [An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.]
Abruzzo-Erickson syndrome DOID_0111826 [A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.]
X-linked spinal muscular atrophy 2 DOID_0111827 [A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3.]
autosomal dominant Aarskog syndrome DOID_0111825 [An Aarskog syndrome characterized by autosomal dominant inheritance.]
obsolete primary Corynebacteriaceae infectious disease DOID_0050346
obsolete primary Thermomonosporaceae infectious disease DOID_0050345