All terms in DOID

Label Id Description
obsolete infectious myositis DOID_12715
Ellis-Van Creveld syndrome DOID_12714 [A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.]
myofibrillar myopathy 5 DOID_0080096 [A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.]
myofibrillar myopathy DOID_0080307 [A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.]
myofibrillar myopathy 6 DOID_0080097 [A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.]
myofibrillar myopathy 7 DOID_0080098 [A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.]
myopathy, lactic acidosis, and sideroblastic anemia DOID_0080099 [A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.]
mitochondrial myopathy DOID_699 [A myopathy that is characterized by mitochondrial dysfunction.]
myofibrillar myopathy 1 DOID_0080092 [A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.]
myofibrillar myopathy 2 DOID_0080093 [A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.]
myofibrillar myopathy 3 DOID_0080094 [A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.]
myofibrillar myopathy 4 DOID_0080095 [A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.]
Charcot-Marie-Tooth disease type 5 DOID_0080067 [A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.]
Charcot-Marie-Tooth disease DOID_10595 [A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.]
holoprosencephaly 12 DOID_0081398 [A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.]
paired limb/fin segment UBERON_0010538
subdivision of organism along appendicular axis UBERON_0010758
autosomal dominant distal hereditary motor neuronopathy 10 DOID_0081399 [An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23.]
autosomal dominant distal hereditary motor neuronopathy DOID_0111198 [A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.]
Charcot-Marie-Tooth disease type 6 DOID_0080068 [A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.]