{"Name":"Spondyloepimetaphyseal dysplasia, aggrecan type","DiseaseID__c":"GARD:0010513","id":10513,"encodedName":"spondyloepimetaphyseal-dysplasia-aggrecan-type","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia, aggrecan type","Xref_IDs__c":"719165004; C2748544; C567558; MEDGEN:411237; MONDO:0013014; OMIM:612813; ORPHA:171866","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013014","Disease_Description__c":"Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia, aggrecan type","GARD_Synonym__c":"semd, aggrecan type; spondyloepimetaphyseal dysplasia aggrecan type","Curated_Disease_Description_Source__c":"MONDO:0013014","Curated_Disease_Description__c":"Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:171866","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013014","ORPHANET_ID__c":"ORPHA:171866","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondilometafisaria tipo agrecán","Spanish_Description_Source__c":"ORPHA:171866","Spanish_Description__c":"La displasia espondiloepimetafisaria tipo agrecán es una forma de displasia esquelética caracterizada por talla baja, dismorfia facial y hallazgos radiológicos característicos.","Spanish_Disease_Name__c":"displasia espondilometafisaria tipo agrecán","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":"Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.","Curated_Disease_Description_Source__c":"MONDO:0013014","GARD_Synonym__c":"semd, aggrecan type; spondyloepimetaphyseal dysplasia aggrecan type","Name":"Spondyloepimetaphyseal dysplasia, aggrecan type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:171866"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:171866"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2748544"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010513","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567558","Source__c":"MONDO:0013014","Xref__c":"C567558"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748544","Source__c":"C2748544","Xref__c":"C2748544"},{"URL__c":"https://www.omim.org/entry/612813","Source__c":"C2748544; MONDO:0013014; ORPHA:171866","Xref__c":"OMIM:612813"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411237","Source__c":"C2748544","Xref__c":"MEDGEN:411237"},{"URL__c":"https://www.orpha.net/en/disease/detail/171866","Source__c":"C2748544; MONDO:0013014; ORPHA:171866","Xref__c":"ORPHA:171866"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719165004","Source__c":"C2748544; MONDO:0013014","Xref__c":"719165004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013014","Source__c":"GARD:0010513","Xref__c":"MONDO:0013014"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACAN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acan","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:171866","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":"ORPHA:171866","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":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001552","HPO_Synonym__c":"Barrel chest; Barrel-shaped chest","HPO_Name__c":"Barrel-shaped chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004482","HPO_Synonym__c":"Disproportionately large head; Macrocephaly, relative; Relatively large head","HPO_Name__c":"Relative macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008905","HPO_Synonym__c":"Disproportionately short upper portion of limb; Rhizomelic dwarfism; Rhizomelic limb shortening; Rhizomelic short limbs; Rhizomelic short stature; Rhizomelic shortening; Short stature, rhizomelic; Symmetrical rhizomelic limb shortening","HPO_Name__c":"Rhizomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003027","HPO_Synonym__c":"Disproportionately short middle portion of limb; Mesomelic limb shortening; Mesomelic shortening of limbs; Symmetric mesomelic limb shortness","HPO_Name__c":"Mesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005285","HPO_Synonym__c":"Absent bridge of nose; Absent nasal bridge; Agenesis of bridge of nose; Agenesis of nasal bridge; Missing bridge of nose; Missing nasal bridge","HPO_Name__c":"Absent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171866","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal function of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002795","HPO_Synonym__c":"Abnormal respiration; Functional respiratory abnormality","HPO_Name__c":"Abnormal respiratory system physiology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["semd, aggrecan type"," spondyloepimetaphyseal dysplasia aggrecan type"]}