All terms in DOID

Label Id Description
blood platelet disease DOID_2218 [A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.]
platelet-type bleeding disorder 8 DOID_0060692 [A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.]
Brunner Syndrome DOID_0060693 [An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.]
Cayman type cerebellar ataxia DOID_0060694 [An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.]
nervous system disease DOID_863 [A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.]
plant material FOODON_00004331
food material by organism FOODON_03420116
Abnormal cerebral subcortex morphology HP_0010993
Spinocerebellar tract degeneration HP_0002503
Abnormal spinocerebellar tract morphology HP_0003133
autosomal dominant nocturnal frontal lobe epilepsy 4 DOID_0060685 [An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.]
autosomal dominant nocturnal frontal lobe epilepsy DOID_0060681 [A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.]
autosomal dominant nocturnal frontal lobe epilepsy 5 DOID_0060686 [An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.]
sesamoid bone UBERON_0001479
arteriovenous malformations of the brain DOID_0060688 [A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.]
atrichia with papular lesions DOID_0060689 [An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.]
alopecia DOID_987 [A hypotrichosis that is characterized by a loss of hair from the head or body.]
skeletal element UBERON_0004765
pigment dispersion syndrome DOID_0060680 [An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.]
eye disease DOID_5614 [An eye and adnexa disease that is located_in the eye.]