{"Name":"Agnathia-otocephaly complex","DiseaseID__c":"GARD:0009126","id":9126,"encodedName":"agnathia-otocephaly-complex","IsDeleted":false,"Disease_Name_Full__c":"Agnathia-otocephaly complex","Xref_IDs__c":"48180002; C0265242; C124568; DOID:0060341; MEDGEN:78541; MONDO:0008740; OMIM:202650; ORPHA:990","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008740","Disease_Description__c":"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.","GARD_Name__c":"Agnathia-otocephaly complex","GARD_Synonym__c":"agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephalic syndrome; otocephalus; otocephaly","Curated_Disease_Description_Source__c":"MONDO:0008740","Curated_Disease_Description__c":"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:990","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008740","ORPHANET_ID__c":"ORPHA:990","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de agnatia-holoprosencefalia-situs inversus","Spanish_Description_Source__c":"ORPHA:990","Spanish_Description__c":"Es una asociación sindrómica muy poco frecuente y fatal caracterizada por la ausencia de mandíbula, malformaciones cerebrales con anomalías faciales relacionadas con un defecto en el desarrollo del cerebro embrionario (p. ej., sinoftalmia, orejas malformadas y de implantación baja fusionadas en la línea media (otocefalia), agenesia de los bulbos olfativos, microstomía, hipoglosia/ aglosia) y situs inversus parcial o total.","Spanish_Disease_Name__c":"síndrome de agnatia-holoprosencefalia-situs inversus","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":"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.","Curated_Disease_Description_Source__c":"MONDO:0008740","GARD_Synonym__c":"agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephalic syndrome; otocephalus; otocephaly","Name":"Agnathia-otocephaly complex","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations","Website__c":"https://www.hperesearch.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:990"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:990"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009126","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060341","Source__c":"MONDO:0008740","Xref__c":"DOID:0060341"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265242","Source__c":"C0265242","Xref__c":"C0265242"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C124568","Source__c":"C0265242; MONDO:0008740","Xref__c":"C124568"},{"URL__c":"https://www.orpha.net/en/disease/detail/990","Source__c":"C0265242; MONDO:0008740","Xref__c":"ORPHA:990"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=48180002","Source__c":"C0265242; MONDO:0008740","Xref__c":"48180002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78541","Source__c":"C0265242","Xref__c":"MEDGEN:78541"},{"URL__c":"https://www.omim.org/entry/202650","Source__c":"C0265242; MONDO:0008740; ORPHA:990","Xref__c":"OMIM:202650"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008740","Source__c":"GARD:0009126","Xref__c":"MONDO:0008740"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRRX1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The nostrils (the paired channels of the nose) are not present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100596","HPO_Synonym__c":"Abouphalia; Aplasia of the nares; Missing nostrils","HPO_Name__c":"Absent nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment or absence of the nose or parts thereof.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009924","HPO_Synonym__c":"Decreased nasal size; Decreased size of nose","HPO_Name__c":"Aplasia/Hypoplasia involving the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007360","HPO_Synonym__c":"Absent/small cerebellum; Absent/underdeveloped cerebellum; Atrophy/Degeneration affecting the cerebellum; Atrophy/Hypoplasia of the cerebellum; Cerebellar hypoplasia/atrophy","HPO_Name__c":"Aplasia/Hypoplasia of the cerebellum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001291","HPO_Synonym__c":"Abnormality of cranial nerve; Abnormality of the cranial nerves; Cranial nerve disease; Cranial nerve involvement","HPO_Name__c":"Abnormal cranial nerve morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100663","HPO_Name__c":"Synotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000171","HPO_Synonym__c":"Decreased size of tongue; Hypoglossia; Hypoplasia of the tongue; Hypoplastic tongue; Lingual hypoplasia; Rudimentary tongue; Small tongue; Underdevelopment of the tongue; Abnormally small tongue","HPO_Name__c":"Microglossia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","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":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009939","HPO_Synonym__c":"Absence of lower jaw; Absence of lower jaw bone; Absence of mandible; Absent mandible; Agenesis of the mandible; Aplasia of the lower jaw bone; Failure of development of lower jaw; Failure of development of mandible; Missing lower jaw","HPO_Name__c":"Mandibular aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in diameter of the internal auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011386","HPO_Name__c":"Narrow internal auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","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:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001360","HPO_Synonym__c":"Single brain ventricle","HPO_Name__c":"Holoprosencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009914","HPO_Synonym__c":"Cyclops eye; Single central eye","HPO_Name__c":"Cyclopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100840","HPO_Synonym__c":"Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow","HPO_Name__c":"Aplasia/Hypoplasia of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:990","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["agnathia-holoprosencephaly-situs inversus syndrome"," dysgnathia complex agnathia-holoprosencephaly"," holoprosencephaly-agnathia"," otocephalic syndrome"," otocephalus"," otocephaly"]}