All terms in DOID

Label Id Description
omphalocele DOID_0060327 [A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.]
myelomeningocele DOID_0060326 [A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.]
cervical polyp DOID_0060325 [A cervix disease characterized by a benign polyp on the surface of the cervical canal.]
dental abscess DOID_0060324 [A tooth disease characterized by a localized collection of pus associated with a tooth.]
breast abscess DOID_0060323 [A breast disease characterized by a collection of pus in the breast.]
mastoiditis DOID_0060322 [A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.]
patella UBERON_0002446
umbilical hernia DOID_0060321 [A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.]
inguinal hernia DOID_0060320 [An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.]
reflex sympathetic dystrophy DOID_1811
natural product fundamental parent CHEBI_35507
steroid fundamental parent CHEBI_35508
spinocerebellar ataxia 8 DOID_0050959 [An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.]
mature_miRNA_variant SO_0001620
spinocerebellar ataxia 7 DOID_0050958 [An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.]
NMD_transcript_variant SO_0001621
UTR_variant SO_0001622
incomplete_terminal_codon_variant SO_0001626
spinocerebellar ataxia 2 DOID_0050955 [An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.]
spinocerebellar ataxia 1 DOID_0050954 [An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.]