{"Name":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","DiseaseID__c":"GARD:0016902","id":16902,"encodedName":"metaphyseal-chondromatosis-with-d-2-hydroxyglutaric-aciduria","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","Xref_IDs__c":"C3553958; MEDGEN:766872; MONDO:0013941; OMIM:614875; ORPHA:99646","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0013941","Disease_Description__c":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.","GARD_Name__c":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","GARD_Synonym__c":"mc-hga; metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria; metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria; spondyloenchondromatosis with d-2-hydroxyglutaric aciduria","Curated_Disease_Description_Source__c":"ORPHA:99646","Curated_Disease_Description__c":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:99646","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013941","ORPHANET_ID__c":"ORPHA:99646","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Condromatosis metafisaria con aciduria d-2-hidroxiglutárica","Spanish_Description_Source__c":"ORPHA:99646","Spanish_Description__c":"Es un trastorno genético extremadamente poco frecuente caracterizado por una combinación única de encondromatosis con aciduria D-2-hidroxiglutárica. Las características clínicas incluyen encondromatosis (con talla baja, displasia metafisaria grave y leve afectación vertebral), niveles elevados de ácido 2-hidroxiglutárico en orina y leve retraso en el desarrollo.","Spanish_Disease_Name__c":"condromatosis metafisaria con aciduria d-2-hidroxiglutárica","Spanish_GARD_Synonym__c":"mc-hga","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":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.","Curated_Disease_Description_Source__c":"ORPHA:99646","GARD_Synonym__c":"mc-hga; metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria; metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria; spondyloenchondromatosis with d-2-hydroxyglutaric aciduria","Name":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.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:99646"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99646"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99646"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766872","Source__c":"C3553958","Xref__c":"MEDGEN:766872"},{"URL__c":"https://www.omim.org/entry/614875","Source__c":"C3553958; MONDO:0013941; ORPHA:99646","Xref__c":"OMIM:614875"},{"URL__c":"https://www.orpha.net/en/disease/detail/99646","Source__c":"C3553958; MONDO:0013941; ORPHA:99646","Xref__c":"ORPHA:99646"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3553958","Source__c":"C3553958","Xref__c":"C3553958"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013941","Source__c":"GARD:0016902","Xref__c":"MONDO:0013941"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IDH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/idh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001601","HPO_Synonym__c":"Softening of voice box tissue","HPO_Name__c":"Laryngomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005868","HPO_Name__c":"Metaphyseal enchondromatosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Irregularity of the iliac crest, which is the superior border of the wing of the ilium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003796","HPO_Name__c":"Irregular iliac crest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011849","HPO_Name__c":"Abnormal bone ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001367","HPO_Synonym__c":"Abnormal shape of joints; Abnormality of the joints; Anomaly of the joints","HPO_Name__c":"Abnormal joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030295","HPO_Name__c":"Metaphyseal chondromatosis of femur","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000233","HPO_Synonym__c":"Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermillion","HPO_Name__c":"Thin vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003029","HPO_Synonym__c":"Enlargement of the ankles","HPO_Name__c":"Enlargement of the ankles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030294","HPO_Name__c":"Metaphyseal chondromatosis of tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007486","HPO_Name__c":"Cavernous hemangioma of the face","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the globus pallidus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002453","HPO_Name__c":"Abnormal globus pallidus morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of dysplastic regions in metaphyseal regions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100255","HPO_Name__c":"Metaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A larger than usual distance between the left and right nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006610","HPO_Synonym__c":"Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples","HPO_Name__c":"Wide intermamillary distance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","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:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030296","HPO_Name__c":"Metaphyseal chondromatosis of radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005701","HPO_Name__c":"Multiple enchondromatosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011681","HPO_Synonym__c":"Conal ventricular septal defect; Doubly committed ventricular septal defect; Infundibular ventricular septal defect; Supracristal ventricular septal defect; Type 1 ventricular septal defect","HPO_Name__c":"Subarterial ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal widening of the metaphyseal regions of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003016","HPO_Synonym__c":"Broad wide portion of long bone; Wide metaphyses; Widened long bone metaphyses; Widened metaphyses","HPO_Name__c":"Metaphyseal widening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed myelination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012448","HPO_Name__c":"Delayed myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of atrophy (wasting) of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012762","HPO_Name__c":"Cerebral white matter atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007375","HPO_Synonym__c":"Abnormality of the septum pellucidum","HPO_Name__c":"Abnormal septum pellucidum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025473","HPO_Name__c":"Hyperpigmented papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001684","HPO_Synonym__c":"Atrial septal defect, ostium secundum type; Ostium secundum atrial septal defect; Patent ostium secundum","HPO_Name__c":"Secundum atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A broad chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000914","HPO_Synonym__c":"Shield chest","HPO_Name__c":"Shield chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","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:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating nasogastric tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011470","HPO_Name__c":"Nasogastric tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003021","HPO_Name__c":"Metaphyseal cupping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004242","HPO_Synonym__c":"Wide carpal bones","HPO_Name__c":"Broad carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012766","HPO_Name__c":"Widened cerebral subarachnoid space","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004820","HPO_Name__c":"Acute myelomonocytic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the knee joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030866","HPO_Name__c":"Large knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:99646","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased concentration of 2-hydroxyglutaric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012321","HPO_Name__c":"D-2-hydroxyglutaric aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007033","HPO_Name__c":"Cerebellar dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the pons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007361","HPO_Synonym__c":"Abnormality of the pons","HPO_Name__c":"Abnormal pons morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal twisting of arteries or veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004948","HPO_Synonym__c":"Twisted blood vessels","HPO_Name__c":"Vascular tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cystic lesion originating within the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010576","HPO_Synonym__c":"Cerebral cystic malformation","HPO_Name__c":"Intracranial cystic lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100764","HPO_Name__c":"Lymphangioma","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030297","HPO_Name__c":"Metaphyseal chondromatosis of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001048","HPO_Synonym__c":"Cavernous angioma; Cavernous haemangioma; Collection of dilated blood vessels that forms mass","HPO_Name__c":"Cavernous hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:99646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002828","HPO_Name__c":"Multiple joint contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["mc-hga"," metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria"," metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria"," spondyloenchondromatosis with d-2-hydroxyglutaric aciduria"]}