All terms in DOID

Label Id Description
leukocyte adhesion deficiency DOID_6612 [A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.]
ovarian dysgenesis 1 DOID_0080493 [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.]
ovarian dysgenesis 2 DOID_0080494 [A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11.]
ovarian dysgenesis 3 DOID_0080495 [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.]
mucolipidosis type IV DOID_0080490 [A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.]
cerebral cavernous malformation 1 DOID_0080491 [A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.]
developmental and epileptic encephalopathy 2 DOID_0080467 [A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.]
hemic and immune system symptom SYMP_0017795
developmental and epileptic encephalopathy 1 DOID_0080468 [A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.]
obsolete congenital disorder of glycosylation type 2m DOID_0080469
developmental and epileptic encephalopathy 33 DOID_0080463 [A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.]
developmental and epileptic encephalopathy 53 DOID_0080464 [A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.]
developmental and epileptic encephalopathy 30 DOID_0080465 [A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.]
obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2 DOID_0080466
chondroid chordoma DOID_4152 [A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.]
synovial sarcoma DOID_5485 [A synovium cancer which develops in the synovial membrane of the joints.]
synovium cancer DOID_2706
dentinogenesis imperfecta DOID_4154 [A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.]
fibrous synovial sarcoma DOID_5484
spinal chordoma DOID_4153 [A chordoma that derives_from the spine.]