{"Name":"Brachydactyly type A1","DiseaseID__c":"GARD:0000978","id":978,"encodedName":"brachydactyly-type-a1","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly type A1","Xref_IDs__c":"715720006; C1862151; C537088; DOID:0110964; MEDGEN:354673; MONDO:0007215; OMIM:112500; ORPHA:93388","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007215","Disease_Description__c":"A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","GARD_Name__c":"Brachydactyly type A1","GARD_Synonym__c":"bda1; brachydactyly farabee type; brachydactyly, farabee type; farabee type brachydactyly; farabee-type brachydactyly; short stature with nonspecific skeletal abnormalities 2; type a1 brachydactyly","Curated_Disease_Description_Source__c":"MONDO:0007215","Curated_Disease_Description__c":"A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93388","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007215","ORPHANET_ID__c":"ORPHA:93388","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia tipo a1","Spanish_Description_Source__c":"ORPHA:93388","Spanish_Description__c":"Es una malformación congénita poco frecuente de las extremidades que se caracteriza por el acortamiento o el infradesarrollo de las falanges medias de todos los dedos, que en ocasiones se fusionan con las falanges terminales. Las falanges proximales de los pulgares y los primeros dedos del pie también están acortadas. Se ha descrito la asociación con talla baja en la edad adulta.","Spanish_Disease_Name__c":"braquidactilia tipo a1","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","Curated_Disease_Description_Source__c":"MONDO:0007215","GARD_Synonym__c":"bda1; brachydactyly farabee type; brachydactyly, farabee type; farabee type brachydactyly; farabee-type brachydactyly; short stature with nonspecific skeletal abnormalities 2; type a1 brachydactyly","Name":"Brachydactyly type A1","estimateUsa":""}],"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93388"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93388"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1862151"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000978","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/112500","Source__c":"C1862151; MONDO:0007215; ORPHA:93388","Xref__c":"OMIM:112500"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715720006","Source__c":"C1862151; MONDO:0007215","Xref__c":"715720006"},{"URL__c":"https://www.orpha.net/en/disease/detail/93388","Source__c":"MONDO:0007215","Xref__c":"ORPHA:93388"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110964","Source__c":"MONDO:0007215","Xref__c":"DOID:0110964"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=354673","Source__c":"C1862151","Xref__c":"MEDGEN:354673"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862151","Source__c":"C1862151","Xref__c":"C1862151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537088","Source__c":"MONDO:0007215","Xref__c":"C537088"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009371","Source__c":"C1862151","Xref__c":"HP:0009371"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007215","Source__c":"GARD:0000978","Xref__c":"MONDO:0007215"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IHH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:93388","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:93388","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010579","HPO_Synonym__c":"Cone-shaped end part of bone; Cone-shaped epiphyses; Coned epiphyses","HPO_Name__c":"Cone-shaped epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001204","HPO_Synonym__c":"Distal symphalangism of hands; Fused outermost bones of hand; Symphalangism affecting the distal phalanges of the hand; Synostosis of distal phalanges; Terminal symphalangism","HPO_Name__c":"Distal finger symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010109","HPO_Synonym__c":"Hypoplastic big toes; Hypoplastic hallux; Short big toe; Short halluces; Small hallux","HPO_Name__c":"Short hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93388","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["bda1"," brachydactyly farabee type"," brachydactyly, farabee type"," farabee type brachydactyly"," farabee-type brachydactyly"," short stature with nonspecific skeletal abnormalities 2"," type a1 brachydactyly"]}