{"Name":"Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome","DiseaseID__c":"GARD:0004047","id":4047,"encodedName":"arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome","Xref_IDs__c":"715217004; C1862472; DOID:0111608; MEDGEN:350678; MONDO:0007158; OMIM:108145; ORPHA:1154","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007158","Disease_Description__c":"An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.","GARD_Name__c":"Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome","GARD_Synonym__c":"arthrogryposis multiple congenita, ophthalmoplegia, ptosis; arthrogryposis with oculomotor limitation and electroretinal abnormalities; arthrogryposis with oculomotor limitation and electroretinal anomaly; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; arthrogryposis, distal, type 5; arthrogryposis, distal, type iib; distal arthrogryposis type 5; distal arthrogryposis type iib; distal arthrogryposis with ophthalmoplegia; oculomelic amyoplasia","Curated_Disease_Description_Source__c":"MONDO:0007158","Curated_Disease_Description__c":"An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1154","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007158","ORPHANET_ID__c":"ORPHA:1154","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de artrogriposis-limitaciones óculo-motoras-anomalías electro-retinianas","Spanish_Description_Source__c":"ORPHA:1154","Spanish_Description__c":"Es un síndrome hereditario de trastornos del desarrollo que se caracteriza por contracturas congénitas múltiples de los miembros, sin enfermedades neurológicas y/o musculares primarias que afecten la función de los miembros, y anomalías oculares (ptosis, oftalmoplejia externa y/o estrabismo). La inteligencia es normal.","Spanish_Disease_Name__c":"síndrome de artrogriposis-limitaciones óculo-motoras-anomalías electro-retinianas","Spanish_GARD_Synonym__c":"amioplasia oculomélica; artrogriposis distal con oftalmoplejía; artrogriposis distal tipo 5; artrogriposis distal tipo iib","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":"An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.","Curated_Disease_Description_Source__c":"MONDO:0007158","GARD_Synonym__c":"arthrogryposis multiple congenita, ophthalmoplegia, ptosis; arthrogryposis with oculomotor limitation and electroretinal abnormalities; arthrogryposis with oculomotor limitation and electroretinal anomaly; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; arthrogryposis, distal, type 5; arthrogryposis, distal, type iib; distal arthrogryposis type 5; distal arthrogryposis type iib; distal arthrogryposis with ophthalmoplegia; oculomelic amyoplasia","Name":"Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.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":"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:1154"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1862472"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004047","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1154","Source__c":"C1862472; MONDO:0007158; ORPHA:1154","Xref__c":"ORPHA:1154"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715217004","Source__c":"C1862472; MONDO:0007158","Xref__c":"715217004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111608","Source__c":"MONDO:0007158","Xref__c":"DOID:0111608"},{"URL__c":"https://www.omim.org/entry/108145","Source__c":"C1862472; MONDO:0007158; ORPHA:1154","Xref__c":"OMIM:108145"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350678","Source__c":"C1862472","Xref__c":"MEDGEN:350678"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862472","Source__c":"C1862472","Xref__c":"C1862472"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007158","Source__c":"GARD:0004047","Xref__c":"MONDO:0007158"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIEZO2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A persistent midline depression of the skin over the fat pad of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010751","HPO_Synonym__c":"Chin butt; Chin dent; Chin dimple; Chin skin dimple; Dimple chin; Gelasin of chin; Indentation of chin","HPO_Name__c":"Dimple chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","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:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","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:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010489","HPO_Synonym__c":"Absence of the palmar creases; Absent palm lines; Aplasia of the palmar creases","HPO_Name__c":"Absent palmar crease","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004097","HPO_Synonym__c":"Atypical position of finger; Deviated fingers; Finger pointing in a different direction than usual","HPO_Name__c":"Deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis of one or more extraocular muscles that are responsible for eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000602","HPO_Synonym__c":"Eye muscle paralysis; Paralysis of extraocular eye movement","HPO_Name__c":"Ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["arthrogryposis multiple congenita, ophthalmoplegia, ptosis"," arthrogryposis with oculomotor limitation and electroretinal abnormalities"," arthrogryposis with oculomotor limitation and electroretinal anomaly"," arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"," arthrogryposis, distal, type 5"," arthrogryposis, distal, type iib"," distal arthrogryposis type 5"," distal arthrogryposis type iib"," distal arthrogryposis with ophthalmoplegia"," oculomelic amyoplasia"]}