All terms in DOID

Label Id Description
muscle pain SYMP_0019161 [A pain that is characterized by a pain in one or more muscles.]
autosomal dominant nonsyndromic deafness 90 DOID_0070607 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12.]
benzylpenicillin CHEBI_18208
autosomal dominant nonsyndromic deafness 84 DOID_0070604 [An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.]
autosomal dominant nonsyndromic deafness 85 DOID_0070605 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36.]
organic hydroxy compound CHEBI_33822
Micrognathia HP_0000347
Aplasia/Hypoplasia of the mandible HP_0009118
paraplegia SYMP_0000349 [A paralysis that is characterized by a complete, or partial, loss of function of the lower half of the body with involvement of both legs that is usually due to injury or disease of the spinal cord in the thoracic or lumbar region.]
lip paralysis SYMP_0000347
throat muscle paralysis SYMP_0000348
Long philtrum HP_0000343
Abnormality of the philtrum HP_0000288
Scylla NCBITaxon_6760
familial renal glucosuria DOID_0070613 [A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2.]
renal glycosuria DOID_9432 [A renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction.]
chromosome 11 partial duplication syndrome DOID_0070614 [A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11.]
hidradenitis suppurativa DOID_2280 [A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.]
hidradenitis DOID_2282 [A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.]
autosomal dominant nonsyndromic deafness 88 DOID_0070611 [An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34.]