{"Name":"Al-Gazali syndrome","DiseaseID__c":"GARD:0010054","id":10054,"encodedName":"al-gazali-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Al-Gazali syndrome","Xref_IDs__c":"C1836121; C536817; MEDGEN:373020; MONDO:0012282; OMIM:609465","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012282","Disease_Description__c":"An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.","GARD_Name__c":"Al-Gazali syndrome","GARD_Synonym__c":"al gazali al talabani syndrome; al gazali lytle syndrome; eye defects arachnodactyly cardiopathy; eye defects, arachnodactyly, cardiopathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0012282","Curated_Disease_Description__c":"An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2725","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012282","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.","Curated_Disease_Description_Source__c":"MONDO:0012282","GARD_Synonym__c":"al gazali al talabani syndrome; al gazali lytle syndrome; eye defects arachnodactyly cardiopathy; eye defects, arachnodactyly, cardiopathy syndrome","Name":"Al-Gazali syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836121"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010054","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536817","Source__c":"MONDO:0012282","Xref__c":"C536817"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373020","Source__c":"C1836121","Xref__c":"MEDGEN:373020"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836121","Source__c":"C1836121","Xref__c":"C1836121"},{"URL__c":"https://www.omim.org/entry/609465","Source__c":"C1836121; MONDO:0012282","Xref__c":"OMIM:609465"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208342001","Source__c":"C1836121","Xref__c":"1208342001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012282","Source__c":"GARD:0010054","Xref__c":"MONDO:0012282"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"B3GALT6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally wide (broad) distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009836","HPO_Synonym__c":"Broad distal phalanges; Broad distal phalanges of the hand; Broad distal phalanx; Broad outermost finger bone; Broad terminal phalanges; Broad, square ends of distal phalanges; Spatulate terminal phalanges","HPO_Name__c":"Broad distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005037","HPO_Name__c":"Proximal radio-ulnar synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating gastrojejunal tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030884","HPO_Synonym__c":"Gastro-jejunal tube feeding in infancy","HPO_Name__c":"Gastrojejunal tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001239","HPO_Synonym__c":"Wrist contracture; Wrist flexion deformity","HPO_Name__c":"Wrist flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral clubfoot deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001776","HPO_Synonym__c":"Bilateral clubfeet; Bilateral clubfoot; Club foot on both sides","HPO_Name__c":"Bilateral talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","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":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000647","HPO_Synonym__c":"Hardening of skin and connective tissue","HPO_Name__c":"Sclerocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003865","HPO_Synonym__c":"Bowed long bone in upper arm; Bowing of the humerus; Humeral bowing","HPO_Name__c":"Bowed humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["al gazali al talabani syndrome"," al gazali lytle syndrome"," eye defects arachnodactyly cardiopathy"," eye defects, arachnodactyly, cardiopathy syndrome"]}