All terms in DOID

Label Id Description
Compton-North congenital myopathy DOID_0080101 [A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels.]
congenital myopathy 4A DOID_0080102 [A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.]
Peroxisome biogenesis disorder 4B DOID_0081433 [A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR.]
cylindrical spirals myopathy DOID_0080103 [A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions.]
Peroxisome biogenesis disorder 5B DOID_0081434 [A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21.]
Frey syndrome DOID_11599 [An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways.]
subendocardial infarction acute myocardial infarction DOID_10266
acute myocardial infarction DOID_9408
myoglobinuria DOID_0080108 [A myopathy that is characterized by an increased urinary excretion of myoglobin.]
Peroxisome biogenesis disorder 11B DOID_0081439 [A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.]
obsolete cold injury syndrome of newborn DOID_11597
infantile myofibromatosis DOID_0080109 [A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.]
mumps DOID_10264 [A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.]
herpangina DOID_10883 [A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.]
obsolete hairy cell leukemia of spleen DOID_10265
scleral disease DOID_11343 [An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.]
central nervous system fibrosarcoma DOID_6451
obsolete Roseolovirus infectious disease DOID_5120 [A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7.]
Erysipelotrichales NCBITaxon_526525
obsolete mixed choriocarcinoma and embryonal carcinoma of the testis DOID_7786