All terms in DOID

Label Id Description
Joubert syndrome 30 DOID_0080275 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37.]
autosomal dominant nonsyndromic deafness 34 DOID_0080270 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.]
nephrotic syndrome type 15 DOID_0080271 [A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.]
eosinophilic meningitis DOID_10361 [A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch.]
acute apical periodontitis DOID_11693
yellowish green diarrhea SYMP_0000738
Galloway-Mowat syndrome 5 DOID_0080247 [A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13.]
Galloway-Mowat syndrome DOID_0080694 [A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.]
bronchopulmonary bleeding SYMP_0000739 [A respiratory system and chest symptom that is characterized by bleeding (hemorrhage) in either or both the bronchi and the lungs.]
erythrokeratodermia variabilis et progressiva 2 DOID_0080248 [An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.]
erythrokeratodermia variabilis DOID_0050467 [A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.]
lymph gland swelling SYMP_0000736
erythrokeratodermia variabilis et progressiva 3 DOID_0080249 [An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.]
respiratory tract mucosa ulcer SYMP_0000737 [A respiratory system and chest symptom that is characterized by an ulceration (dying and sloughing) of the bronchial or bronchiolar epithelium, exposing the underlying basement membrane.]
amelogenesis imperfecta type 3B DOID_0080243 [An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene.]
amelogenesis imperfecta type 3 DOID_0111721 [An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption.]
Galloway-Mowat syndrome 2 DOID_0080244 [A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28.]
sudden ataxis SYMP_0000732
Galloway-Mowat syndrome 3 DOID_0080245 [A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11.]
sternocleidomastoid weakness SYMP_0000733