{"Name":"Gollop syndrome","DiseaseID__c":"GARD:0002390","id":2390,"encodedName":"gollop-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Gollop syndrome","Xref_IDs__c":"716022002; C2931720; C538063; MEDGEN:444125; MONDO:0009247; OMIM:229400; ORPHA:1791","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009247","Disease_Description__c":"A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.","GARD_Name__c":"Gollop syndrome","GARD_Synonym__c":"ffnd; fronto-facio-nasal dysplasia; frontofacionasal dysostosis; frontofacionasal dysplasia; frontofacionasal dysplasia syndrome","Curated_Disease_Description_Source__c":"MONDO:0009247","Curated_Disease_Description__c":"A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1791","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009247","ORPHANET_ID__c":"ORPHA:1791","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia frontofacionasal","Spanish_Description_Source__c":"ORPHA:1791","Spanish_Description__c":"Es una enfermedad poco frecuente de origen genético caracterizada por múltiples anomalías craneofaciales congénitas variables, que incluyen braquicefalia, cráneo bífido oculto, hipertelorismo, hipoplasia mediofacial, hipoplasia nasal o hendidura labio/palatina, entre otras, así como anomalías oculares y palpebrales. También se ha descrito la asociación de encefalocele y espina bífida.","Spanish_Disease_Name__c":"displasia frontofacionasal","Spanish_GARD_Synonym__c":"síndrome de gollop; síndrome óculo aurículo fronto nasal","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 genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.","Curated_Disease_Description_Source__c":"MONDO:0009247","GARD_Synonym__c":"ffnd; fronto-facio-nasal dysplasia; frontofacionasal dysostosis; frontofacionasal dysplasia; frontofacionasal dysplasia syndrome","Name":"Gollop syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1791"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538063","Source__c":"MONDO:0009247","Xref__c":"C538063"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716022002","Source__c":"C2931720; MONDO:0009247","Xref__c":"716022002"},{"URL__c":"https://www.omim.org/entry/229400","Source__c":"C2931720; MONDO:0009247; ORPHA:1791","Xref__c":"OMIM:229400"},{"URL__c":"https://www.orpha.net/en/disease/detail/1791","Source__c":"C2931720; MONDO:0009247; ORPHA:1791","Xref__c":"ORPHA:1791"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444125","Source__c":"C2931720","Xref__c":"MEDGEN:444125"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931720","Source__c":"C2931720","Xref__c":"C2931720"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009247","Source__c":"GARD:0002390","Xref__c":"MONDO:0009247"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1791","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:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A short discontinuity of the margin of the upper eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000636","HPO_Synonym__c":"Cleft upper eyelid; Coloboma of the upper eyelid; Full thickness defect of the upper eyelid; Notched upper eyelid; Upper eyelid colobomas","HPO_Name__c":"Upper eyelid coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal indentation of the skin in the region of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004132","HPO_Synonym__c":"Dimple on nasal tip; Dimpled tip of nose","HPO_Name__c":"Dimple on nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001140","HPO_Synonym__c":"Epibulbar dermoid; Epibulbar dermoids","HPO_Name__c":"Limbal dermoid","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","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:1791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000456","HPO_Synonym__c":"Bifid tip of nose; Cleft nasal tip","HPO_Name__c":"Bifid nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","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:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007708","HPO_Synonym__c":"Absent inner eyelashes","HPO_Name__c":"Absent inner eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002084","HPO_Synonym__c":"Bifid skull; Cranium bifidum","HPO_Name__c":"Encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","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":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","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:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital malformation with a cleft (gap or opening) in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002006","HPO_Synonym__c":"Cleft of the face; Facial cleft; Tessier facial cleft","HPO_Name__c":"Tessier cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007036","HPO_Synonym__c":"Underdeveloped olfactory tract","HPO_Name__c":"Hypoplasia of olfactory tract","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000384","HPO_Synonym__c":"Ear tag; Periauricular skin tag; Preauricular acrochordon; Preauricular fibroepithelial polyp; Preauricular skin tags; Preauricular tag; Preauricular tags","HPO_Name__c":"Preauricular skin tag","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","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:1791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of whitish spots in a ring-like arrangement at the periphery of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001088","HPO_Synonym__c":"Iris brushfield spots","HPO_Name__c":"Brushfield spots","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100335","HPO_Synonym__c":"Non-midline cleft of the upper lip; Paramedian cleft of the upper lip","HPO_Name__c":"Non-midline cleft of the upper lip","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["ffnd"," fronto-facio-nasal dysplasia"," frontofacionasal dysostosis"," frontofacionasal dysplasia"," frontofacionasal dysplasia syndrome"]}