All terms in DOID

Label Id Description
Fliedner-Zweier syndrome DOID_0070653 [A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22.]
desmosterolosis DOID_0070654 [A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.]
neurodevelopmental disorder with seizures and gingival overgrowth DOID_0070651 [A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles.]
Nil-Deshwan neurodevelopmental syndrome DOID_0070652 [A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13.]
Revtraviricetes NCBITaxon_2732514
Artverviricota NCBITaxon_2732409
hypopyon SYMP_0000301
hypothermia SYMP_0000302 [A neurological and physiological symptom that is characterized by a subnormal temperature of the body, as defined by a temperature under 36.6 degrees Celcius (97.8 degrees Fahrenheit).]
hyperesthesia SYMP_0000300 [A sensation perception that is characterized by an increased sensitivity to stimulation.]
alpha-gal syndrome DOID_0070659 [An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products.]
Blubervirales NCBITaxon_2732515
monogenic inheritance GENO_0000933
polygenic inheritance GENO_0000932
multifactorial inheritance GENO_0000929
loss of balance SYMP_0000318 [A balance symptom that is characterized by an inability to stay upright and move confidently. Loss of balance may be due to problems in the inner ear, the brain, or the heart. Aging, infections, head injury, certain medicines, and problems with blood circulation may also cause balance problems.]
loss of tendon reflex SYMP_0000319
autosomal inheritance GENO_0000934
leg cramp SYMP_0000316
complete X-linked dominant inheritance GENO_0000937
X-linked dominant inheritance GENO_0000146