All terms in DOID

Label Id Description
adult-onset myofibrillar myopathy 2A 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
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.]
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 7 DOID_0080069 [A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.]
susceptibility to X-linked autism 1 MIM_300425
obsolete breast arcinoma metastatic to the liver DOID_12724
obsolete lung carcinoma metastatic to the liver DOID_12723
sternum cancer DOID_5090 [A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum.]
obsolete liver metastasis DOID_12722
cerebral atherosclerosis DOID_12720 [An atherosclerosis of the cerebral vasculature.]
thoracic disease DOID_0060118 [A disease of anatomical entity that is located_in the thoracic cavity.]
obsolete transmissible gastroenteritis of swine DOID_5085 [A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration.]