All terms in DOID

Label Id Description
generalized abdominal swelling SYMP_0000549
abdominal swelling SYMP_0000478
right upper quadrant abdominal pain SYMP_0000547
right lower quadrant abdominal swelling SYMP_0000548
multiple sites abdominal swelling SYMP_0000545
right lower quadrant abdominal pain SYMP_0000546
brachycephaly, trichomegaly, and developmental delay DOID_0070415 [A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14.]
Luo-Schoch-Yamamoto syndrome DOID_0070416 [A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25.]
autosomal recessive spinocerebellar ataxia 32 DOID_0070413 [An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26.]
autosomal recessive spinocerebellar ataxia 33 DOID_0070414 [An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13.]
autosomal recessive spinocerebellar ataxia 30 DOID_0070411 [An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15.]
autosomal recessive spinocerebellar ataxia 31 DOID_0070412 [An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25.]
autosomal recessive spinocerebellar ataxia 29 DOID_0070410 [An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14.]
memory loss SYMP_0000543 [A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both. Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time.]
transient paralysis of limb SYMP_0000544 [A paralysis that is characterized by a loss of some, or all, muscle control in a limb, and which lasts for only a short time (i.e. is temporary).]
periumbilic abdominal swelling SYMP_0000541
epigastric abdominal pain SYMP_0000542 [An abdominal pain that is characterized by occurring in the epigastrium, i.e. the upper part of the abdomen below the rib cage.]
acrocardiofacial syndrome DOID_0070419 [A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit.]
organic aromatic compound CHEBI_33659
painful respiration SYMP_0000540 [A respiratory system and chest symptom that is characterized by a feeling of discomfort when breathing in or out. The pain may be the result of infection, musculoskeletal injury, and heart problems.]