All terms in DOID

Label Id Description
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.]
autosomal dominant nonsyndromic deafness 89 DOID_0070612 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22.]
keratopathy DOID_2283
autosomal dominant nonsyndromic deafness 86 DOID_0070610 [An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11.]
capillary lymphangioma DOID_2286
panting respiration SYMP_0000345 [A respiratory abnormality that is characterized by short, shallow, and rapid breathing.]
papule SYMP_0000346 [A skin and integumentary tissue symptom that is characterized by a small solid usually conical elevation of the skin caused by inflammation, accumulated secretion, or hypertrophy of tissue elements.]
painful lymph glands SYMP_0000343 [A pain that is characterized by a pain situated, or occurring, in the lymph gland (lymph node). Pain is often associated with swelling of the gland, which is a sign that one's body is fighting an infection.]
mitochondrial trifunctional protein deficiency 1 DOID_0070619 [A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.]