{"orpha":174,"name":"Metaphyseal chondrodysplasia, Schmid type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MDSC","SMCD"],"definition":"Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-174/","orphanet_url":"https://www.orpha.net/en/disease/detail/174","names":{"fr":{"name":"Chondrodysplasie métaphysaire type Schmid","definition":"La chondrodysplasie métaphysaire de type Schmid est une maladie rare caractérisée par un taille modérément petite avec des membres courts, un coxa vara, un tibia vara et une démarche anormale."},"de":{"name":"Chondrodysplasie, metaphysäre, Typ Schmid","synonyms":["MDSC","SMCD"],"definition":"Die Metaphysäre Dysplasie Typ Schmid ist eine seltene Krankheit, gekennzeichnet durch moderaten Kleinwuchs, kurze Gliedmaßen, Coxa vara, O-Beine und abnormes Gangbild."},"es":{"name":"Condrodisplasia metafisaria tipo Schmid","definition":"La condrodisplasia metafisiaria tipo Schmid es un trastorno raro caracterizado por estatura moderadamente baja con extremidades cortas, coxa vara, piernas arqueadas y alteración de la marcha."},"it":{"name":"Condrodisplasia metafisaria, tipo Schmid"},"nl":{"name":"Metafysaire chondrodysplasie, Schmid-type","synonyms":["MDSC","SMCD"],"definition":"Metafysaire chondrodysplasie, Schmid-type is een zeldzame aandoening, gekenmerkt door matig kleine gestalte met korte ledematen, coxa vara, O-benen, en abnormale gang."},"pt":{"name":"Condrodisplasia metafisária, tipo Schmid","synonyms":["MDSC","SMCD"],"definition":"A condrodisplasia metafisária de Schmid é uma doença rara caracterizada por baixa estatura moderada com membros curtos, coxa vara, pernas encurvadas e marcha anormal."},"pl":{"name":"Chondrodysplazja przynasadowa typu Schmida","synonyms":["MDSC","SMCD"]},"cs":{"name":"Metafyzární chondrodysplázie, Schmidův typ","synonyms":["MDSC","SMCD"]},"uk":{"name":"Метафізарна хондродисплазія, тип Шміда","definition":"Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait."},"zh":{"name":"干骺软骨发育异常Schmid型"},"tr":{"name":"Metafizeal kondrodisplazi, Schmid tipi"}},"xrefs":[{"source":"OMIM","code":"156500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2059541564"},{"source":"MONDO","code":"0007983","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265289","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"COL10A1","name":"collagen type X alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17403716[PMID]","hgnc":"2185","ensembl":"ENSG00000123500","omim":"120110","loci":["6q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-27","source":"15578582[PMID]_31633898[PMID]","terms":[{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030299","label":"Distal femoral metaphyseal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003021","label":"Metaphyseal cupping","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006431","label":"Proximal femoral metaphyseal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025369","label":"Thick growth plates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005923","label":"Abnormalities of the metaphyses of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000907","label":"Anterior rib cupping","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009852","label":"Broad proximal phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045079","label":"Distal femoral metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006028","label":"Metaphyseal cupping of metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006208","label":"Metaphyseal cupping of proximal phalanges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006634","label":"Osteosclerosis of ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003411","label":"Proximal femoral metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001248","label":"Short tubular bones of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005028","label":"Widened proximal tibial metaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003301","label":"Irregular vertebral endplates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004019","label":"Radial metaphyseal irregularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004042","label":"Ulnar metaphyseal irregularity","frequency":"Occasional (29-5%)","criteria":null}]}}