SHMARQL

thiamine-responsive megaloblastic anemia syndrome

<http://www.wikidata.org/entity/Q2857909>

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness
rdfs:label
"thiamine-responsive megaloblastic anemia syndrome"@en
skos:altLabel
"Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus and Sensorineural Deafness"@en
"Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness"@en
"Rogers syndrome"@en
"THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME"@en
"THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA"@en
"THMD1"@en
"TRMA"@en
"Thiamine Metabolism Dysfunction Syndrome 1 (Megaloblastic Anemia, Diabetes Mellitus, and Deafness Type)"@en
"Thiamine responsive megaloblastic anemia syndrome"@en
"thiamine metabolism dysfunction syndrome 1"@en
"thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)"@en
"thiamine-responsive anemia syndrome"@en
"thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness"@en
"thiamine-responsive myelodysplasia"@en
schema:description
"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness"@en
schema:dateModified "2026-10-24T00:24:14+00:00"^^xsd:dateTime
schema:version 2560165487
wikibase:identifiers 12
wikibase:sitelinks 3
wikibase:statements 52
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C536510>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009575>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01183>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0090117>
wdt:P11430 "DI-02365"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D49827"
wdt:P1550 "49827"
"498277"
wdt:P1995 medical genetics
wdt:P2293 SLC19A2
wdt:P279 autosomal recessive disease
megaloblastic anemia
syndrome
developmental anomaly of metabolic origin
other rare diabetes mellitus
rare genetic diabetes mellitus
syndromic genetic deafness
vitamin B12- and folate-independent constitutional megaloblastic anemia
wdt:P2841 childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:0090117>
<http://purl.obolibrary.org/obo/DOID_0090117>
wdt:P2892 "C0342287"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q21.0"
wdt:P4317 "9210"
wdt:P486 "C536510"
wdt:P492 "249270"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0009575"
wdt:P6532 megaloblastic anemia
acute visual loss
stroke
cerebellar ataxia
lethargy
cardiac arrest
pallor
global developmental delay
anorexia
optic atrophy
diarrhea
fundus dystrophy
thrombocytopenia
seizure
short stature
atrial heart septal defect
paresthesia
ventricular septal defect
cardiomyopathy
headache
sensorineural hearing loss
wdt:P665 "H01183"
wdt:P699 "DOID:0090117"
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