All terms in DOID

Label Id Description
auditory system disease DOID_2742 [A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.]
Peroxisome biogenesis disorder 9B DOID_0081438 [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 PEX7 gene on chromosome 6q23.]
microcephaly and chorioretinopathy 3 DOID_0080107 [A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.]
microcephaly, short stature, and limb abnormalities DOID_0081431 [An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death.]
obsolete Batten Turner congenital myopathy DOID_0080100 [A myopathy that is characterized by the lack of muscle tone or floppiness at birth.]
susceptibility to multiple sclerosis 5 MIM_614810
microcephaly-micromelia syndrome DOID_0081432 [A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder.]
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.]
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.]
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.]
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 (Orthorubulavirus parotitidis), 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.]