All terms in DOID

Label Id Description
maxillary sinus cholesteatoma DOID_867 [A cholesteatoma located_in paranasal sinus.]
diplegia of upper limb DOID_862
linear skin defects with multiple congenital anomalies 1 DOID_0111808 [A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2.]
syndromic microphthalmia 2 DOID_0111809 [A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11.]
syndromic microphthalmia 5 DOID_0111806 [A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.]
syndromic microphthalmia 9 DOID_0111807 [A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.]
syndromic microphthalmia 11 DOID_0111804 [A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.]
syndromic microphthalmia 6 DOID_0111805 [A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.]
phlebitis DOID_864 [A vein disease that is characterized by inflammation of a vein.]
syndromic microphthalmia 14 DOID_0111802 [A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.]
syndromic microphthalmia 8 DOID_0111803 [A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.]
disease of metabolism DOID_0014667 [A disease that involves errors in metabolic processes of building or degradation of molecules.]
respiratory system connective tissue UBERON_0003570
ventral horn of spinal cord UBERON_0002257
spinal cord column UBERON_0016550
trunk connective tissue UBERON_0003586
Prunus avium NCBITaxon_42229
Ctenosquamata NCBITaxon_123367
Eurypterygia NCBITaxon_123366
Neoteleostei NCBITaxon_123365