{"Name":"X-linked spondyloepimetaphyseal dysplasia","DiseaseID__c":"GARD:0004979","id":4979,"encodedName":"x-linked-spondyloepimetaphyseal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"X-linked spondyloepimetaphyseal dysplasia","Xref_IDs__c":"770603000; C1848097; C188996; C564714; DOID:0112150; MEDGEN:376281; MONDO:0010248; OMIM:300106; ORPHA:93349","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010248","Disease_Description__c":"X-linked form of spondyloepimetaphyseal dysplasia.","GARD_Name__c":"X-linked spondyloepimetaphyseal dysplasia","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia, x-linked; spondyloepimetaphyseal dysplasia, x-linked, x-linked recessive","Curated_Disease_Description_Source__c":"MONDO:0010248","Curated_Disease_Description__c":"X-linked form of spondyloepimetaphyseal dysplasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93349","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010248","ORPHANET_ID__c":"ORPHA:93349","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepimetafisaria ligada al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia espondiloepimetafisaria ligada al cromosoma x","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":"X-linked form of spondyloepimetaphyseal dysplasia.","Curated_Disease_Description_Source__c":"MONDO:0010248","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia, x-linked; spondyloepimetaphyseal dysplasia, x-linked, x-linked recessive","Name":"X-linked spondyloepimetaphyseal dysplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1848097"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004979","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376281","Source__c":"C1848097","Xref__c":"MEDGEN:376281"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564714","Source__c":"MONDO:0010248","Xref__c":"C564714"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112150","Source__c":"MONDO:0010248","Xref__c":"DOID:0112150"},{"URL__c":"https://www.omim.org/entry/300106","Source__c":"C1848097; MONDO:0010248; ORPHA:93349","Xref__c":"OMIM:300106"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848097","Source__c":"C1848097","Xref__c":"C1848097"},{"URL__c":"https://www.orpha.net/en/disease/detail/93349","Source__c":"C1848097; MONDO:0010248; ORPHA:93349","Xref__c":"ORPHA:93349"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770603000","Source__c":"C1848097","Xref__c":"770603000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C188996","Source__c":"C1848097","Xref__c":"C188996"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010248","Source__c":"GARD:0004979","Xref__c":"MONDO:0010248"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BGN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Reduced length of the clavicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000894","HPO_Synonym__c":"Clavicular hypoplasia; Hypoplastic clavicles; Short collarbone; Underdeveloped clavicles","HPO_Name__c":"Short clavicles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004981","HPO_Name__c":"Prominent styloid process of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011940","HPO_Synonym__c":"Anterior wedging of the 12th thoracic vertebra; Wedge-shaped 12th thoracic vertebra","HPO_Name__c":"Anterior wedging of T12","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Short palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004279","HPO_Synonym__c":"Short palm","HPO_Name__c":"Short palm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Reduced side to side width of the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003275","HPO_Synonym__c":"Narrow pelvis bone","HPO_Name__c":"Narrow pelvis bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001773","HPO_Synonym__c":"Hypoplastic feet; Short feet; Short foot; Small feet","HPO_Name__c":"Short foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:300106","Feature__r":{"HPO_Description__c":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009803","HPO_Synonym__c":"Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges","HPO_Name__c":"Short phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005066","HPO_Synonym__c":"Cone-shaped end part of long bone fused within their wide portion of wide bone","HPO_Name__c":"Cone-shaped epiphyses fused within their metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006059","HPO_Synonym__c":"Cone-shaped end part of long bone","HPO_Name__c":"Cone-shaped metacarpal epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003180","HPO_Synonym__c":"Acetabular angle flat; Flat acetabular roofs; Flattened acetabular roof; Horizontal acetabulae; Horizontal acetabular roof; Horizontal acetabular roofs","HPO_Name__c":"Flat acetabular roof","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","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":"OMIM:300106","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003521","HPO_Synonym__c":"Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism","HPO_Name__c":"Disproportionate short-trunk short stature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003311","HPO_Synonym__c":"Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process","HPO_Name__c":"Hypoplasia of the odontoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","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":"OMIM:300106","Feature__r":{"HPO_Description__c":"Wide, concave posterior rib end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000922","HPO_Synonym__c":"Anterior and posterior rib cupping","HPO_Name__c":"Posterior rib cupping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009486","HPO_Synonym__c":"Radial deviation of hands","HPO_Name__c":"Radial deviation of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004573","HPO_Synonym__c":"Anterior wedging of the 11th thoracic vertebra; Wedge-shaped 11th thoracic vertebra","HPO_Name__c":"Anterior wedging of T11","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Limited ability to straighten the arm at the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001377","HPO_Synonym__c":"Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Reduced elbow extension; Restricted elbow extension","HPO_Name__c":"Limited elbow extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002651","HPO_Name__c":"Spondyloepimetaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:300106","Feature__r":{"HPO_Description__c":"Increased length of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003988","HPO_Synonym__c":"Disproportionately long ulnae","HPO_Name__c":"Long ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Disproportionately long fibulae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003085","HPO_Synonym__c":"Disproportionately long fibula; Long calf bone; Long fibula","HPO_Name__c":"Long fibula","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004000","HPO_Synonym__c":"Chevron-shaped distal radial epiphysis","HPO_Name__c":"Cone-shaped distal radial epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","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":"OMIM:300106","Feature__r":{"HPO_Description__c":"Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005622","HPO_Synonym__c":"Broad long bones; Wide long bones; Widened long bones","HPO_Name__c":"Broad long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002673","HPO_Synonym__c":"Valgus hip","HPO_Name__c":"Coxa valga","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010230","HPO_Synonym__c":"Cone-shaped end part of finger bones; Cone-shaped epiphyses of hand; Cone-shaped epiphyses of the fingers; Coned epiphyses of hands; Conical phalangeal epiphyses","HPO_Name__c":"Cone-shaped epiphyses of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Increased side-to-side width of one or more phalanges of the fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006009","HPO_Synonym__c":"Broad phalanges; Wide digital bones; Wide phalanges; Widened phalanges","HPO_Name__c":"Broad phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Ossification of carpal bones occurs later than age-adjusted norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001216","HPO_Synonym__c":"Carpal delayed ossification; Delayed carpal bone age; Delayed carpal ossification; Delayed maturation of carpal bones","HPO_Name__c":"Delayed ossification of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Increased width of the diaphysis of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006371","HPO_Synonym__c":"Broad shaft of long bone; Wide shaft of long bone","HPO_Name__c":"Broad long bone diaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","Feature__r":{"HPO_Description__c":"Abnormally broad metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001230","HPO_Synonym__c":"Wide long bones of hand; Wide metacarpals","HPO_Name__c":"Broad metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300106","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:300106","Feature__r":{"HPO_Description__c":"Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002869","HPO_Synonym__c":"Flared iliac wings","HPO_Name__c":"Flared iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["spondyloepimetaphyseal dysplasia, x-linked"," spondyloepimetaphyseal dysplasia, x-linked, x-linked recessive"]}