All terms in DOID

Label Id Description
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.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein.]
palpebral edema SYMP_0000344 [An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the eyelids.]
aromatic carboxylic acid CHEBI_33859
slurred speech SYMP_0000342
rhabdoid tumor predisposition syndrome 1 DOID_0070618 [A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11.]
autoinflammation, antibody deficiency, and immune dysregulation syndrome DOID_0070615 [An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23.]
limb edema SYMP_0000340 [An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the limbs.]
glycine encephalopathy 1 DOID_0070616 [A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24.]
glycine encephalopathy DOID_9268 [An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.]
premature labor SYMP_0000358 [A reproductive system symptom that is characterized by labor occurring before 37 full weeks of pregnancy.]
profound weakness SYMP_0000359
Brachyura NCBITaxon_6752
Pleocyemata NCBITaxon_6692