{"Name":"Follicular atrophoderma and basal cell epitheliomata","DiseaseID__c":"GARD:0000838","id":838,"encodedName":"follicular-atrophoderma-and-basal-cell-epitheliomata","IsDeleted":false,"Disease_Name_Full__c":"Follicular atrophoderma and basal cell epitheliomata","Xref_IDs__c":"238640007; 254820002; C0346104; MEDGEN:87539; MONDO:0010535; OMIM:301845","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010535","Disease_Description__c":"Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.","GARD_Name__c":"Follicular atrophoderma and basal cell epitheliomata","GARD_Synonym__c":"acrokeratosis of bazex; acrokeratosis paraneoplastica; acrokeratosis paraneoplastica of bazex; bazex syndrome; bazex syndrome, x-linked dominant; bazex-dupre-christol syndrome; bazex-dupré-christol syndrome; bdcs; follicular atrophoderma and basal cell carcinomas","Curated_Disease_Description_Source__c":"MONDO:0010535","Curated_Disease_Description__c":"Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:113","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010535","ORPHANET_ID__c":"ORPHA:113; ORPHA:166113","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:113","Spanish_Description__c":"El síndrome de Bazex-Dupré-Christol es una genodermatosis rara que predispone a la aparición temprana de carcinomas basocelulares.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.","Curated_Disease_Description_Source__c":"MONDO:0010535","GARD_Synonym__c":"acrokeratosis of bazex; acrokeratosis paraneoplastica; acrokeratosis paraneoplastica of bazex; bazex syndrome; bazex syndrome, x-linked dominant; bazex-dupre-christol syndrome; bazex-dupré-christol syndrome; bdcs; follicular atrophoderma and basal cell carcinomas","Name":"Follicular atrophoderma and basal cell epitheliomata","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/301845","Source__c":"C0346104; MONDO:0010535","Xref__c":"OMIM:301845"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87539","Source__c":"C0346104","Xref__c":"MEDGEN:87539"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238640007","Source__c":"MONDO:0010535","Xref__c":"238640007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0346104","Source__c":"C0346104","Xref__c":"C0346104"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254820002","Source__c":"C0346104; MONDO:0010535","Xref__c":"254820002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010535","Source__c":"GARD:0000838","Xref__c":"MONDO:0010535"}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009886","HPO_Name__c":"Trichorrhexis nodosa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003777","HPO_Synonym__c":"Flattened and twisted hair","HPO_Name__c":"Pili torti","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","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":"OMIM:301845","Feature__r":{"HPO_Description__c":"Hair shafts are rough in texture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002208","HPO_Synonym__c":"Coarse hair; Coarse hair texture","HPO_Name__c":"Coarse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Decreased width of the nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000418","HPO_Synonym__c":"Decreased width of dorsum of nose; Decreased width of nasal dorsum; Decreased width of nasal ridge; Narrow dorsum of nose; Narrow nasal dorsum; Narrow nasal ridge; Pinched nose; Thin dorsum of nose; Thin nasal dorsum; Thin nasal ridge","HPO_Name__c":"Narrow nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Accentuation of the grooves on the dorsal surface of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000221","HPO_Synonym__c":"Fissured tongue; Grooved tongue; Lingua plicata; Lingual furrow; Plicated tongue; Prominent tongue grooves; Scrotal tongue","HPO_Name__c":"Furrowed tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Columella extending inferior to the level of the nasal base, when viewed from the side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009765","HPO_Synonym__c":"Columella, low; Columella, low hanging; Extension of the columella below the ala nasi; Low-hanging columella","HPO_Name__c":"Low hanging columella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001047","HPO_Synonym__c":"Allergic eczema; Atopic dermatitis, chronic; Atopic eczema; Dermatitis, Atopic; Infantile eczema; Neurodermatitis; Prurigo Besnier","HPO_Name__c":"Atopic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032152","HPO_Synonym__c":"Carpet tack sign; Chicken skin; Follicular keratosis; Follicular keratotic plug; Follicular plugging; Hyperkeratosis pilaris; Lichen pilaris","HPO_Name__c":"Keratosis pilaris","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040154","HPO_Synonym__c":"Hidradenitis suppurativa; Pyoderma fistulans significa; Smoker's boils; Verneuil's disease","HPO_Name__c":"Acne inversa","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025367","HPO_Name__c":"Trichoepithelioma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301845","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology"],"Disease Category":["Cancer","Genetics","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["acrokeratosis of bazex"," acrokeratosis paraneoplastica"," acrokeratosis paraneoplastica of bazex"," bazex syndrome"," bazex syndrome, x-linked dominant"," bazex-dupre-christol syndrome"," bazex-dupré-christol syndrome"," bdcs"," follicular atrophoderma and basal cell carcinomas"]}