All terms in DOID

Label Id Description
male reproductive organ UBERON_0003135
Kufor-Rakeb syndrome DOID_0060556 [An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.]
early-onset Parkinson's disease DOID_0060894 [A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age.]
compound organ component UBERON_0000471
multi-tissue structure UBERON_0000481
ataxia with oculomotor apraxia type 3 DOID_0060557 [An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.]
autosomal recessive cerebellar ataxia DOID_0050950 [A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.]
lethal congenital contracture syndrome DOID_0060558 [A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.]
physical disorder DOID_0080015 [A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.]
anatomical cluster UBERON_0000477
disconnected anatomical group UBERON_0034923
lethal congenital contracture syndrome 1 DOID_0060559 [A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.]
organism subdivision UBERON_0000475
multicellular anatomical structure UBERON_0010000
ablepharon macrostomia syndrome DOID_0060550 [A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.]
poikiloderma with neutropenia DOID_0060551 [A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.]
ligament of vertebral column UBERON_0011136
skeletal ligament UBERON_0008846
nonsynovial joint UBERON_0011134
skeletal joint UBERON_0000982