{"Name":"Multiple epiphyseal dysplasia type 5","DiseaseID__c":"GARD:0009794","id":9794,"encodedName":"multiple-epiphyseal-dysplasia-type-5","IsDeleted":false,"Disease_Name_Full__c":"Multiple epiphyseal dysplasia type 5","Xref_IDs__c":"715674008; C1846843; C535505; DOID:0070299; MEDGEN:335542; MONDO:0011765; OMIM:607078; ORPHA:93311","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011765","Disease_Description__c":"Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.","GARD_Name__c":"Multiple epiphyseal dysplasia type 5","GARD_Synonym__c":"bhmed; bilateral hereditary micro-epiphyseal dysplasia; edm5; epiphyseal dysplasia, multiple, type 5; matn3 multiple epiphyseal dysplasia (disease); med5; microepiphyseal dysplasia, bilateral hereditary; multiple epiphyseal dysplasia (disease) caused by mutation in matn3; multiple epiphyseal dysplasia, matn3-related; polyepiphyseal dysplasia type 5","Curated_Disease_Description_Source__c":"MONDO:0011765","Curated_Disease_Description__c":"Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:93311","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011765","ORPHANET_ID__c":"ORPHA:93311","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia epifisaria múltiple tipo 5","Spanish_Description_Source__c":"ORPHA:93311","Spanish_Description__c":"Es una displasia epifisaria múltiple caracterizada por un inicio temprano de dolor y rigidez (que afecta a rodillas y caderas), deformidad progresiva de las extremidades y osteoartritis precoz asociada a osificación irregular y tardía de las epífisis. Las características específicas de este tipo de displasia incluyen talla normal y menor incidencia de anomalías de la marcha. Las radiografías revelan irregularidades epifisarias y metafisarias. Sigue un patrón de transmisión autosómico dominante.","Spanish_Disease_Name__c":"displasia epifisaria múltiple tipo 5","Spanish_GARD_Synonym__c":"bhmed; displasia micro-epifisaria hereditaria bilateral; displasia poliepifisaria tipo 5; edm5; med5","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.","Curated_Disease_Description_Source__c":"MONDO:0011765","GARD_Synonym__c":"bhmed; bilateral hereditary micro-epiphyseal dysplasia; edm5; epiphyseal dysplasia, multiple, type 5; matn3 multiple epiphyseal dysplasia (disease); med5; microepiphyseal dysplasia, bilateral hereditary; multiple epiphyseal dysplasia (disease) caused by mutation in matn3; multiple epiphyseal dysplasia, matn3-related; polyepiphyseal dysplasia type 5","Name":"Multiple epiphyseal dysplasia type 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:93311"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1846843"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009794","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1123","Source__c":"Gene Review","Xref__c":"NBK1123"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535505","Source__c":"MONDO:0011765","Xref__c":"C535505"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070299","Source__c":"MONDO:0011765","Xref__c":"DOID:0070299"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335542","Source__c":"C1846843","Xref__c":"MEDGEN:335542"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846843","Source__c":"C1846843","Xref__c":"C1846843"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715674008","Source__c":"C1846843; MONDO:0011765","Xref__c":"715674008"},{"URL__c":"https://www.omim.org/entry/607078","Source__c":"C1846843; MONDO:0011765; ORPHA:93311","Xref__c":"OMIM:607078"},{"URL__c":"https://www.orpha.net/en/disease/detail/93311","Source__c":"C1846843; MONDO:0011765; ORPHA:93311","Xref__c":"ORPHA:93311"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011765","Source__c":"GARD:0009794","Xref__c":"MONDO:0011765"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MATN3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/matn3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93311","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003502","HPO_Synonym__c":"short stature, mild","HPO_Name__c":"Mild short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004268","HPO_Name__c":"Osteoarthritis of the small joints of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental delay of ossification of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008828","HPO_Synonym__c":"Delayed ossification of the proximal femoral epiphysis; Delayed ossification proximal femoral epiphyses","HPO_Name__c":"Delayed proximal femoral epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005743","HPO_Synonym__c":"Osteochondrosis of the femoral head; Osteonecrosis of the femoral head; Perthes-like femoral head changes","HPO_Name__c":"Avascular necrosis of the capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of degenerative changes of intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008419","HPO_Synonym__c":"Degeneration of intervertebral disks; Degenerative disk disease; Degenerative intervertebral disk","HPO_Name__c":"Intervertebral disk degeneration","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008800","HPO_Synonym__c":"Limited hip movement","HPO_Name__c":"Limited hip movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain affecting the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003365","HPO_Synonym__c":"Coxalgia; Hip arthralgia; Hip joint pain","HPO_Name__c":"Arthralgia of the hip","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the femur outward to the side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003184","HPO_Synonym__c":"Limited hip abduction","HPO_Name__c":"Decreased hip abduction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001384","HPO_Synonym__c":"Abnormality of the hip joint","HPO_Name__c":"Abnormal hip joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005877","HPO_Name__c":"Multiple small vertebral fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002970","HPO_Synonym__c":"Genu vara; Genua vara; Outward bow-leggedness; Outward bowing at knees","HPO_Name__c":"Genu varum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003839","HPO_Synonym__c":"Abnormal shape of end part of upper limb long bones; Abnormality involving the epiphyses of the upper limbs; Abnormality of upper limb epiphysis morphology; Epihyseal plate abnormality of the upper limbs","HPO_Name__c":"Abnormal upper limb epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the epiphyses of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010631","HPO_Synonym__c":"Abnormality of the end part of the foot bone","HPO_Name__c":"Abnormality of the epiphyses of the feet","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003170","HPO_Synonym__c":"Abnormality of the acetabulum; Abnormality of the hipbone socket; Acetabular abnormality","HPO_Name__c":"Abnormal acetabulum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030840","HPO_Synonym__c":"Ankle pain","HPO_Name__c":"Ankle pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93311","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003088","HPO_Synonym__c":"Premature arthritis; Premature osteoarthritis","HPO_Name__c":"Premature osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["bhmed"," bilateral hereditary micro-epiphyseal dysplasia"," edm5"," epiphyseal dysplasia, multiple, type 5"," matn3 multiple epiphyseal dysplasia (disease)"," med5"," microepiphyseal dysplasia, bilateral hereditary"," multiple epiphyseal dysplasia (disease) caused by mutation in matn3"," multiple epiphyseal dysplasia, matn3-related"," polyepiphyseal dysplasia type 5"]}