All terms in DOID

Label Id Description
hypomyelinating leukodystrophy 16 DOID_0070405 [A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21.]
oxazinane CHEBI_46952
organonitrogen heterocyclic compound CHEBI_38101
organic heteromonocyclic compound CHEBI_25693
oxacycle CHEBI_38104
hypomyelinating leukodystrophy 22 DOID_0070402 [A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.]
hypomyelinating leukodystrophy 26 DOID_0070403 [A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21.]
hypomyelinating leukodystrophy 19 DOID_0070400 [A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.]
hypomyelinating leukodystrophy 25 DOID_0070401 [A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21.]
urge incontinence SYMP_0000532 [A urinary incontinence that is characterized by an involuntary leakage of urine from the bladder when a sudden strong need to urinate is felt, even when the bladder isn't full.]
post-void dribbling SYMP_0000533 [A urinary incontinence that is characterized by urine remaining in the urethra after voiding the bladder that slowly leaks out after urination.]
palpitation SYMP_0000530 [Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease.]
splenomegaly SYMP_0000531
Hengel-Maroofian-Schols syndrome DOID_0070408 [A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23.]
autosomal recessive spinocerebellar ataxia 28 DOID_0070409 [An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33.]
hypomyelinating leukodystrophy 24 DOID_0070406 [A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.]
hypomyelinating leukodystrophy 21 DOID_0070407 [A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13.]
aromatic compound CHEBI_33655
Vaginal atresia HP_0000148
Genital tract atresia HP_0001827