{"Name":"Ulnar hemimelia","DiseaseID__c":"GARD:0019182","id":19182,"encodedName":"ulnar-hemimelia","IsDeleted":false,"Disease_Name_Full__c":"Ulnar hemimelia","Xref_IDs__c":"21893008; C0265583; MEDGEN:539346; MONDO:0019670; ORPHA:93320","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019670","Disease_Description__c":"A rare congenital limb malformation characterized by complete or partial absence of the ulna.","GARD_Name__c":"Ulnar hemimelia","GARD_Synonym__c":"congenital longitudinal deficiency of the ulna; longitudinal deficiency of ulna; longitudinal reduction defect of ulna; ulnar clubhand; ulnar longitudinal meromelia","Curated_Disease_Description_Source__c":"MONDO:0019670","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by complete or partial absence of the ulna.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93320","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019670","ORPHANET_ID__c":"ORPHA:93320","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemimelia cubital aislada","Spanish_Description_Source__c":"ORPHA:93320","Spanish_Description__c":"Es una malformación congénita poco frecuente de las extremidades caracterizada por la ausencia total o parcial del cúbito.","Spanish_Disease_Name__c":"hemimelia cubital aislada","Spanish_GARD_Synonym__c":"deficiencia cubital del antebrazo aislada; deficiencia longitudinal congénita aislada del cúbito; mano zamba cubital aislada; meromelia longitudinal cubital aislada","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 complete or partial absence of the ulna.","Curated_Disease_Description_Source__c":"MONDO:0019670","GARD_Synonym__c":"congenital longitudinal deficiency of the ulna; longitudinal deficiency of ulna; longitudinal reduction defect of ulna; ulnar clubhand; ulnar longitudinal meromelia","Name":"Ulnar hemimelia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Infancy","Provided_By__c":"ORPHA:93320"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93320"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265583","Source__c":"C0265583","Xref__c":"C0265583"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539346","Source__c":"C0265583","Xref__c":"MEDGEN:539346"},{"URL__c":"https://www.orpha.net/en/disease/detail/93320","Source__c":"C0265583; MONDO:0019670","Xref__c":"ORPHA:93320"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=21893008","Source__c":"MONDO:0019670","Xref__c":"21893008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44444001","Source__c":"C0265583","Xref__c":"44444001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019670","Source__c":"GARD:0019182","Xref__c":"MONDO:0019670"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009380","HPO_Synonym__c":"Absent fingers; Aplasia of the fingers; Hand has less than 5 fingers; Hand oligodactyly","HPO_Name__c":"Finger aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002996","HPO_Synonym__c":"Decreased elbow mobility; Limited elbow mobility; Limited elbow movement; Restricted elbow motion","HPO_Name__c":"Limited elbow movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009702","HPO_Synonym__c":"Carpal bone fusion; Carpal fusion; Fused carpal bones; Fusion of carpal bones; Synostosis involving the carpal bones","HPO_Name__c":"Carpal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deviation from the normal straight form of one or more toe phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010176","HPO_Synonym__c":"Curved phalanges of the toes; Curved toe bone","HPO_Name__c":"Curved toe phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absent 5th (little) finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009238","HPO_Synonym__c":"Absent little finger; Absent pinkie finger; Absent pinky finger","HPO_Name__c":"Aplasia of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009471","HPO_Synonym__c":"Camptodactyly of the 3rd finger; Camptodactyly of the third finger","HPO_Name__c":"Contracture of the proximal interphalangeal joint of the 3rd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006376","HPO_Name__c":"Limited elbow flexion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multiple bent (flexed) finger joints that cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005879","HPO_Synonym__c":"Congenital finger contractures","HPO_Name__c":"Congenital finger flexion contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003967","HPO_Synonym__c":"Increased bone density of forearm bones","HPO_Name__c":"Sclerotic forearm bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unilateral atrophy (reduction in size) of an arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100558","HPO_Synonym__c":"Asymmetric upper limb shortening; Hemihypotrophy of upper limb","HPO_Name__c":"Hemiatrophy of upper limb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100745","HPO_Name__c":"Abnormality of the humeroulnar joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006495","HPO_Synonym__c":"Absence/underdevelopment of inner forearm bone; Absent-hypoplastic ulnae; Absent/small ulna; Hypoplasia or unilateral/bilateral absence of ulna; Ulnar hypoplasia/aplasia","HPO_Name__c":"Aplasia/Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009760","HPO_Synonym__c":"Pterygium cubitale; Webbed elbow","HPO_Name__c":"Antecubital pterygium","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009959","HPO_Synonym__c":"Duplication of middle finger bone; Partial/complete duplication of phalanges of the 3rd finger","HPO_Name__c":"Duplication of phalanx of 3rd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental defect associated with absence of one or more metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010048","HPO_Synonym__c":"Absent long bone of hand; Absent metacarpal; Absent metacarpals","HPO_Name__c":"Aplasia of metacarpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002986","HPO_Synonym__c":"Bowed radii; Bowed radius; Bowing of outer large bone of the forearm; Bowing of radius bone of the forearm","HPO_Name__c":"Radial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A limitation of the range of movement of the shoulder joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006467","HPO_Synonym__c":"Limited shoulder movement","HPO_Name__c":"Limited shoulder movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003316","HPO_Synonym__c":"Anterior rachischisis; Butterfly vertebrae; Sagittal clefting of vertebrae","HPO_Name__c":"Butterfly vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010331","HPO_Synonym__c":"Absent/hypoplastic third toe; Absent/small 3rd toe; Absent/underdeveloped 3rd toe","HPO_Name__c":"Aplasia/Hypoplasia of the 3rd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003041","HPO_Synonym__c":"Fusion of upper and lower arm bones; Humeral radial synostosis; Humeral-radial synostosis; Radiohumeral synostosis of elbow; Synostosis of radius and humerus","HPO_Name__c":"Humeroradial synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the third metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010011","HPO_Synonym__c":"Abnormality of the 3rd long bone of hand; Abnormality of the 3rd metacarpal","HPO_Name__c":"Abnormal 3rd metacarpal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006055","HPO_Name__c":"Ulnar deviated club hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009701","HPO_Synonym__c":"Fused long bones of hand; Synostosis involving metacarpal bones; Synostosis involving the metacarpal bones","HPO_Name__c":"Metacarpal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absent 4th finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009281","HPO_Synonym__c":"Absent ring finger","HPO_Name__c":"Aplasia of the 4th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009164","HPO_Synonym__c":"Abnormal calcification of the wrist bones; Carpal calcifications","HPO_Name__c":"Abnormal calcification of the carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006633","HPO_Synonym__c":"Glenoid hypoplasia; Hypoplastic glenoid fossa","HPO_Name__c":"Glenoid fossa hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003059","HPO_Name__c":"Abnormality of the radioulnar joints","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009813","HPO_Name__c":"Upper limb phocomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003083","HPO_Synonym__c":"Congenital radial head dislocation; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation","HPO_Name__c":"Dislocated radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","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"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005773","HPO_Synonym__c":"Hypoplasia of both radius and ulna; Short forearm","HPO_Name__c":"Short forearm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010301","HPO_Synonym__c":"Incomplete closure of the vertebral arch","HPO_Name__c":"Spinal dysraphism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003887","HPO_Synonym__c":"Abnormal head of long bone in upper arm; Abnormality of the humeral heads","HPO_Name__c":"Abnormal humeral head morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030835","HPO_Synonym__c":"Elbow pain","HPO_Name__c":"Elbow pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdeveloped scapula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000882","HPO_Synonym__c":"Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae; Small shoulder blade","HPO_Name__c":"Hypoplastic scapulae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040070","HPO_Synonym__c":"Abnormal morphology of bones of the upper limbs; Abnormal shape of bones of the upper limbs; Abnormality of upper limb bone","HPO_Name__c":"Abnormal upper limb bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006433","HPO_Synonym__c":"Abnormal radial ray morphology; Deformity of radial ray; Dysplastic radii; Radial club hand; Radial dysplasia; Radial longitudinal deficiency; Radial ray anomaly; Radial ray deformity","HPO_Name__c":"Radial ray deficiency","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":["congenital longitudinal deficiency of the ulna"," longitudinal deficiency of ulna"," longitudinal reduction defect of ulna"," ulnar clubhand"," ulnar longitudinal meromelia"]}