{"Name":"Metaphyseal chondrodysplasia, Schmid type","DiseaseID__c":"GARD:0007029","id":7029,"encodedName":"metaphyseal-chondrodysplasia-schmid-type","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal chondrodysplasia, Schmid type","Xref_IDs__c":"29248006; C0265289; C537352; DOID:0080021; MEDGEN:78550; MONDO:0007983; NBK547823; OMIM:156500; ORPHA:174","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007983","Disease_Description__c":"Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.","GARD_Name__c":"Metaphyseal chondrodysplasia, Schmid type","GARD_Synonym__c":"japanese type spondylometaphyseal dysplasia; mcds; metaphyseal chondrodysplasia schmid type; metaphyseal dysplasia, schmid type; schmid metaphyseal chondrodysplasia; schmid type metaphyseal dysplasia; spondylometaphyseal dysplasia, japanese type","Curated_Disease_Description_Source__c":"GARD:0007029","Curated_Disease_Description__c":"Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets. MCDS is caused by a genetic change in one of the collagen genes known as COL10A1. The genetic change may be inherited from a parent or may happen for the first time in an affected individual. The MCDS genetic change is passed on in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:174","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007983","ORPHANET_ID__c":"ORPHA:174","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Condrodisplasia metafisaria tipo schmid","Spanish_Description_Source__c":"ORPHA:174","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"condrodisplasia metafisaria tipo schmid","Spanish_GARD_Synonym__c":null,"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":"Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets. MCDS is caused by a genetic change in one of the collagen genes known as COL10A1. The genetic change may be inherited from a parent or may happen for the first time in an affected individual. The MCDS genetic change is passed on in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0007029","GARD_Synonym__c":"japanese type spondylometaphyseal dysplasia; mcds; metaphyseal chondrodysplasia schmid type; metaphyseal dysplasia, schmid type; schmid metaphyseal chondrodysplasia; schmid type metaphyseal dysplasia; spondylometaphyseal dysplasia, japanese type","Name":"Metaphyseal chondrodysplasia, Schmid type","estimateUsa":""}],"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":"Infancy","Provided_By__c":"ORPHA:174"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:174"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:174"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265289"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007029","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK547823","Source__c":"Gene Review","Xref__c":"NBK547823"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78550","Source__c":"C0265289","Xref__c":"MEDGEN:78550"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080021","Source__c":"MONDO:0007983","Xref__c":"DOID:0080021"},{"URL__c":"https://www.omim.org/entry/156500","Source__c":"C0265289; MONDO:0007983; ORPHA:174","Xref__c":"OMIM:156500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537352","Source__c":"MONDO:0007983","Xref__c":"C537352"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=29248006","Source__c":"C0265289; MONDO:0007983","Xref__c":"29248006"},{"URL__c":"https://www.orpha.net/en/disease/detail/174","Source__c":"C0265289; MONDO:0007983; ORPHA:174","Xref__c":"ORPHA:174"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265289","Source__c":"C0265289","Xref__c":"C0265289"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007983","Source__c":"GARD:0007029","Xref__c":"MONDO:0007983"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL10A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","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:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature affecting a long bone of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002979","HPO_Synonym__c":"Bow legs; Bow-leggedness; Bowed legs; Bowed lower limbs","HPO_Name__c":"Bowing of the legs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005923","HPO_Synonym__c":"Abnormalities of the metaphyses of the hand; Abnormality of the wide portion of the hand bone","HPO_Name__c":"Abnormal hand metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","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:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the metaphysis of the distal femur (close to the knee).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030299","HPO_Synonym__c":"Abnormality of wide portion of outermost thighbone; Distal femoral metaphyseal abnormality","HPO_Name__c":"Abnormal distal femoral metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005028","HPO_Synonym__c":"Wide innermost wide portion of shankbone bone; Wide innermost wide portion of shinbone bone","HPO_Name__c":"Widened proximal tibial metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the metaphysis of the proximal femur (close to the hip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006431","HPO_Synonym__c":"Abnormal wide portion of innermost thighbone; Proximal femoral metaphyseal abnormality","HPO_Name__c":"Abnormal proximal femoral metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the proximal metaphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003411","HPO_Synonym__c":"Irregular proximal femoral metaphyses","HPO_Name__c":"Proximal femoral metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001248","HPO_Synonym__c":"Long bone shortening of the hand; Short long bones of the hand; Shortened long tubular bones of the hand; Shortened tubular bones of the hand","HPO_Name__c":"Short tubular bones of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bowing (abnormal curvature) of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002980","HPO_Synonym__c":"Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone","HPO_Name__c":"Femoral bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width of the proximal phalanges of the finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009852","HPO_Synonym__c":"Broad innermost finger bones of the hand; Wide innermost finger bones of the hand","HPO_Name__c":"Broad proximal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003021","HPO_Name__c":"Metaphyseal cupping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Metaphyseal cupping affecting the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006028","HPO_Synonym__c":"Cupping of wide portion of long bone of hand; Metacarpal/metaphyseal cupping","HPO_Name__c":"Metaphyseal cupping of metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Metaphyseal cupping affecting the proximal phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006208","HPO_Name__c":"Metaphyseal cupping of proximal phalanges","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased thickness (dimension along the axis of the bone) of the growth plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025369","HPO_Name__c":"Thick growth plates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the distal metaphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045079","HPO_Synonym__c":"Irregular distal femoral metaphyses","HPO_Name__c":"Distal femoral metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteosclerosis of ribs (increased density related to increased bone mass).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006634","HPO_Synonym__c":"Increased bone density in ribs","HPO_Name__c":"Osteosclerosis of ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphysis of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004019","HPO_Synonym__c":"Irregular radial metaphysis","HPO_Name__c":"Radial metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003468","HPO_Synonym__c":"Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies","HPO_Name__c":"Abnormal vertebral morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wide, concave anterior rib end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000907","HPO_Synonym__c":"Anterior cupping of ribs; Anteriorly splayed ribs","HPO_Name__c":"Anterior rib cupping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An irregular surface of the vertebral end plates, which are normally relatively smooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003301","HPO_Synonym__c":"end-plate irregularities; endplate irregularities; endplate irregularity; Irregular end plates; Irregular endplates; irregular vertebral plates; vertebral endplate irregularity","HPO_Name__c":"Irregular vertebral endplates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008873","HPO_Synonym__c":"Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism","HPO_Name__c":"Disproportionate short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003025","HPO_Synonym__c":"Frayed, irregular metaphyses; Frayed, irregular, metaphyses; Irregular metaphyses; Irregular wide portion of a long bone; Metaphyseal fraying; Metaphyseal irregularities","HPO_Name__c":"Metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:174","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphysis of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004042","HPO_Synonym__c":"Irregular ulnar metaphysis","HPO_Name__c":"Ulnar metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["japanese type spondylometaphyseal dysplasia"," mcds"," metaphyseal chondrodysplasia schmid type"," metaphyseal dysplasia, schmid type"," schmid metaphyseal chondrodysplasia"," schmid type metaphyseal dysplasia"," spondylometaphyseal dysplasia, japanese type"]}