{"Name":"Spondyloepimetaphyseal dysplasia, PAPSS2 type","DiseaseID__c":"GARD:0016813","id":16813,"encodedName":"spondyloepimetaphyseal-dysplasia-papss2-type","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia, PAPSS2 type","Xref_IDs__c":"719172003; C2748516; DOID:0050812; MEDGEN:440564; MONDO:0019666; OMIM:612847; ORPHA:93282","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019666","Disease_Description__c":"Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia, PAPSS2 type","GARD_Synonym__c":"brachyolmia 4 with mild epiphyseal and metaphyseal changes; brachyolmia type 4 with mild epiphyseal and metaphyseal changes; semd, pakistani type; spondylodysplasia and premature pubarche; spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type; spondyloepimetaphyseal dysplasia pakistani type; spondyloepimetaphyseal dysplasia papss2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type; spondyloepimetaphyseal dysplasia papss2 type; spondyloepimetaphyseal dysplasia, pakistani type","Curated_Disease_Description_Source__c":"ORPHA:93282","Curated_Disease_Description__c":"Spondyloepimetaphyseal dysplasia, PAPSS2 type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.","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:93282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019666","ORPHANET_ID__c":"ORPHA:93282","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepifisaria tipo paquistaní","Spanish_Description_Source__c":"ORPHA:93282","Spanish_Description__c":"La displasia espondiloepimetafisaria (SEMD), tipo paquistaní, se caracteriza por talla baja, extremidades inferiores cortas y arqueadas, braquidactilia moderada, cifoescoliosis, trastornos de la marcha, articulaciones de las rodillas agrandadas, osteoartropatía temprana e inteligencia normal.","Spanish_Disease_Name__c":"displasia espondiloepifisaria tipo paquistaní","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, PAPSS2 type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.","Curated_Disease_Description_Source__c":"ORPHA:93282","GARD_Synonym__c":"brachyolmia 4 with mild epiphyseal and metaphyseal changes; brachyolmia type 4 with mild epiphyseal and metaphyseal changes; semd, pakistani type; spondylodysplasia and premature pubarche; spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type; spondyloepimetaphyseal dysplasia pakistani type; spondyloepimetaphyseal dysplasia papss2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type; spondyloepimetaphyseal dysplasia papss2 type; spondyloepimetaphyseal dysplasia, pakistani type","Name":"Spondyloepimetaphyseal dysplasia, PAPSS2 type","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":"Neonatal","Provided_By__c":"ORPHA:93282"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93282"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050812","Source__c":"MONDO:0019666","Xref__c":"DOID:0050812"},{"URL__c":"https://www.orpha.net/en/disease/detail/93282","Source__c":"C2748516; MONDO:0019666","Xref__c":"ORPHA:93282"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719172003","Source__c":"C2748516; MONDO:0019666","Xref__c":"719172003"},{"URL__c":"https://www.omim.org/entry/612847","Source__c":"C2748516; MONDO:0019666","Xref__c":"OMIM:612847"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748516","Source__c":"C2748516","Xref__c":"C2748516"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=440564","Source__c":"C2748516","Xref__c":"MEDGEN:440564"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019666","Source__c":"GARD:0016813","Xref__c":"MONDO:0019666"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAPSS2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612847","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:612847","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":"OMIM:612847","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:612847","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612847","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000869","HPO_Synonym__c":"Previous menstrual periods stop","HPO_Name__c":"Secondary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612847","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004626","HPO_Name__c":"Lumbar scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612847","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":"OMIM:612847","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612847","Feature__r":{"HPO_Description__c":"Leg shortening because of underdevelopment of one or more bones of the lower extremity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009816","HPO_Synonym__c":"Hypoplasia involving bones of the lower limbs; Hypoplasia of the lower limbs; Lower limb undergrowth; Underdeveloped lower limb bones","HPO_Name__c":"Lower limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612847","Feature__r":{"HPO_Description__c":"The onset of growth of pubic hair at an earlier age than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012411","HPO_Synonym__c":"Premature pubic hair growth","HPO_Name__c":"Premature pubarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612847","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612847","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:612847","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["brachyolmia 4 with mild epiphyseal and metaphyseal changes"," brachyolmia type 4 with mild epiphyseal and metaphyseal changes"," semd, pakistani type"," spondylodysplasia and premature pubarche"," spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type"," spondyloepimetaphyseal dysplasia pakistani type"," spondyloepimetaphyseal dysplasia papss2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type"," spondyloepimetaphyseal dysplasia papss2 type"," spondyloepimetaphyseal dysplasia, pakistani type"]}