{"Name":"Gorlin syndrome","DiseaseID__c":"GARD:0007166","id":7166,"encodedName":"gorlin-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Gorlin syndrome","Xref_IDs__c":"69408002; C0004779; C2892; D001478; DOID:0070365; DOID:2512; MEDGEN:2554; MONDO:0007187; OMIMPS:109400; ORPHA:377","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007187","Disease_Description__c":"A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.","GARD_Name__c":"Gorlin syndrome","GARD_Synonym__c":"basal cell carcinoma syndrome; basal cell nevus syndrome; bcns - basal cell nevus syndrome; gorlin-goltz syndrome; gorlin's syndrome; multiple basal cell carcinomas; nbccs; nbccs - nevoid basal cell carcinoma syndrome; nevoid basal cell cancer syndrome; nevoid basal cell carcinoma syndrome","Curated_Disease_Description_Source__c":"GARD:0007166","Curated_Disease_Description__c":"Gorlin syndrome leads to the growth of non-cancerous and cancerous tumors. The symptoms include basal cell cancers, jaw cysts, skin pits on the hands and feet, and abnormal deposits of calcium in the brain. Other symptoms may include bone abnormalities of the spine, ribs, or skull, and a large head. Some of the signs and symptoms of Gorlin syndrome are present at birth. There is an increased risk for a type of brain tumor (medulloblastoma) in childhood. Jaw cysts and basal cell cancers typically appear by adulthood. Gorlin syndrome occurs when the PTCH1, PTCH2, or the SUFU gene is not working correctly. It is inherited in an autosomal dominant manner. Gorlin syndrome is diagnosed based on clinical examination for specific features and genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:377","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007187","ORPHANET_ID__c":"ORPHA:377","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de gorlin","Spanish_Description_Source__c":"ORPHA:377","Spanish_Description__c":"Es un trastorno hereditario poco frecuente de transmisión autosómica dominante con hamartosis caracterizado por múltiples carcinomas basocelulares (CBC) de aparición temprana, múltiples queratoquistes mandibulares y anomalías esqueléticas.","Spanish_Disease_Name__c":"síndrome de gorlin","Spanish_GARD_Synonym__c":"nbccs; síndrome de carcinoma nevoide de células basales; síndrome de gorlin-goltz; síndrome de nevo de células basales; síndrome del carcinoma nevoide de células basales; síndrome del nevo de células basales","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":"Gorlin syndrome leads to the growth of non-cancerous and cancerous tumors. The symptoms include basal cell cancers, jaw cysts, skin pits on the hands and feet, and abnormal deposits of calcium in the brain. Other symptoms may include bone abnormalities of the spine, ribs, or skull, and a large head. Some of the signs and symptoms of Gorlin syndrome are present at birth. There is an increased risk for a type of brain tumor (medulloblastoma) in childhood. Jaw cysts and basal cell cancers typically appear by adulthood. Gorlin syndrome occurs when the PTCH1, PTCH2, or the SUFU gene is not working correctly. It is inherited in an autosomal dominant manner. Gorlin syndrome is diagnosed based on clinical examination for specific features and genetic testing.","Curated_Disease_Description_Source__c":"GARD:0007166","GARD_Synonym__c":"basal cell carcinoma syndrome; basal cell nevus syndrome; bcns - basal cell nevus syndrome; gorlin-goltz syndrome; gorlin's syndrome; multiple basal cell carcinomas; nbccs; nbccs - nevoid basal cell carcinoma syndrome; nevoid basal cell cancer syndrome; nevoid basal cell carcinoma syndrome","Name":"Gorlin syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.org/"},{"Account_Name__c":"Children's Brain Tumor Foundation","Website__c":"https://cbtf.org/"},{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"},{"Account_Name__c":"Gorlin Syndrome Alliance","Website__c":"https://gorlinsyndrome.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:377"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:377"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007166","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1151","Source__c":"Gene Review","Xref__c":"NBK1151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2554","Source__c":"C0004779","Xref__c":"MEDGEN:2554"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0004779","Source__c":"C0004779","Xref__c":"C0004779"},{"URL__c":"https://www.orpha.net/en/disease/detail/377","Source__c":"C0004779; MONDO:0007187; ORPHA:377","Xref__c":"ORPHA:377"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001478","Source__c":"C0004779; MONDO:0007187","Xref__c":"D001478"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS109400","Source__c":"MONDO:0007187","Xref__c":"OMIMPS:109400"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070365","Source__c":"MONDO:0007187","Xref__c":"DOID:0070365"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=69408002","Source__c":"C0004779; MONDO:0007187","Xref__c":"69408002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2512","Source__c":"MONDO:0007187","Xref__c":"DOID:2512"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2892","Source__c":"C0004779; MONDO:0007187","Xref__c":"C2892"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007187","Source__c":"GARD:0007166","Xref__c":"MONDO:0007187"},{"URL__c":"https://gorlinsyndrome.org/science-articles/report-of-fda-gorlin-syndrome-patient-led-listening-session-11-09-2020/"},{"URL__c":"https://medlineplus.gov/genetics/condition/gorlin-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/gorlin-syndrome","Source__c":"GARD:0007166","Xref__c":"https://medlineplus.gov/genetics/condition/gorlin-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PTCH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ptch1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PTCH2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SUFU","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002858","HPO_Name__c":"Meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wide, concave anterior rib end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000907","HPO_Synonym__c":"Anterior cupping of ribs; Anteriorly splayed ribs","HPO_Name__c":"Anterior rib cupping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect leading to the union of two adjacent vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002948","HPO_Synonym__c":"Congenital spinal fusion; Congenitally fused vertebrae; Fusion of vertebral bodies; Vertebral body fusion","HPO_Name__c":"Vertebral fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003468","HPO_Synonym__c":"Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies","HPO_Name__c":"Abnormal vertebral morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to perceive and distinguish scents (odors).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004408","HPO_Synonym__c":"Abnormal sense of smell; Abnormality of olfaction; Abnormality of the sense of smell; Smell defect","HPO_Name__c":"Abnormality of the sense of smell","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition in the falx cerebri.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005462","HPO_Name__c":"Calcification of falx cerebri","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002885","HPO_Name__c":"Medulloblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","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:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","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:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","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:377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008422","HPO_Synonym__c":"anterior wedging; Wedge-shaped vertebrae; Wedged vertebrae","HPO_Name__c":"Vertebral wedging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete or partial merging of adjacent ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000902","HPO_Synonym__c":"Fused ribs; Rib fusion","HPO_Name__c":"Rib fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","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:377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","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:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a fibroma of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010618","HPO_Name__c":"Ovarian fibroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010610","HPO_Name__c":"Palmar pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005449","HPO_Name__c":"Bridged sella turcica","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010612","HPO_Name__c":"Plantar pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000892","HPO_Synonym__c":"Cleft ribs; Split ribs","HPO_Name__c":"Bifid ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A fibroma of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010617","HPO_Name__c":"Cardiac fibroma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of one half of the vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002937","HPO_Synonym__c":"Hemi-vertebrae; Hemivertebra; Missing part of vertebrae","HPO_Name__c":"Hemivertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","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:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010603","HPO_Synonym__c":"Keratocystic odontogenic tumor; Keratocysts of the jaw","HPO_Name__c":"Odontogenic keratocysts of the jaw","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:377","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Dermatology","Odontology","Pediatrics"],"Disease Category":["Cancer","Genetics","Neurology","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["basal cell carcinoma syndrome"," basal cell nevus syndrome"," bcns - basal cell nevus syndrome"," gorlin-goltz syndrome"," gorlin's syndrome"," multiple basal cell carcinomas"," nbccs"," nbccs - nevoid basal cell carcinoma syndrome"," nevoid basal cell cancer syndrome"," nevoid basal cell carcinoma syndrome"]}