{"Name":"Hypohidrotic X-linked ectodermal dysplasia","DiseaseID__c":"GARD:0010427","id":10427,"encodedName":"hypohidrotic-x-linked-ectodermal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Hypohidrotic X-linked ectodermal dysplasia","Xref_IDs__c":"239007005; C0162359; C84562; DOID:0111664; MEDGEN:57890; MONDO:0010585; OMIM:305100; ORPHA:181","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010585","Disease_Description__c":"An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.","GARD_Name__c":"Hypohidrotic X-linked ectodermal dysplasia","GARD_Synonym__c":"anhidrotic ectodermal dysplasia x-linked; christ siemens touraine syndrome; christ-siemans-touraine syndrome; christ-siemens-touraine syndrome; cst - christ-siemens-touraine syndrome; cst syndrome; ectodermal dysplasia 1; ectodermal dysplasia 1, anhidrotic; ectodermal dysplasia 1, hypohidrotic, x-linked; ectodermal dysplasia 1, hypohidrotic, x-linked, x-linked recessive; ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked; ectodermal dysplasia, hypohidrotic, 1; hypohidrotic ectodermal dysplasia, x-linked; hypohidrotic ectodermal dysplasia, x-linked (xlhed); x-linked anhidrotic ectodermal dysplasia; x-linked hypohidrotic ectodermal dysplasia; xhed","Curated_Disease_Description_Source__c":"MONDO:0010585","Curated_Disease_Description__c":"An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:181","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010585","ORPHANET_ID__c":"ORPHA:181","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia ectodérmica hipohidrótica ligada al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia ectodérmica hipohidrótica ligada al cromosoma x","Spanish_GARD_Synonym__c":"dehx; síndrome de christ-siemens-touraine","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 X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.","Curated_Disease_Description_Source__c":"MONDO:0010585","GARD_Synonym__c":"anhidrotic ectodermal dysplasia x-linked; christ siemens touraine syndrome; christ-siemans-touraine syndrome; christ-siemens-touraine syndrome; cst - christ-siemens-touraine syndrome; cst syndrome; ectodermal dysplasia 1; ectodermal dysplasia 1, anhidrotic; ectodermal dysplasia 1, hypohidrotic, x-linked; ectodermal dysplasia 1, hypohidrotic, x-linked, x-linked recessive; ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked; ectodermal dysplasia, hypohidrotic, 1; hypohidrotic ectodermal dysplasia, x-linked; hypohidrotic ectodermal dysplasia, x-linked (xlhed); x-linked anhidrotic ectodermal dysplasia; x-linked hypohidrotic ectodermal dysplasia; xhed","Name":"Hypohidrotic X-linked ectodermal dysplasia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"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":"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:181"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:181"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162359"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010427","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1112","Source__c":"Gene Review","Xref__c":"NBK1112"},{"URL__c":"https://www.omim.org/entry/305100","Source__c":"C0162359; MONDO:0010585; ORPHA:181","Xref__c":"OMIM:305100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239007005","Source__c":"C0162359; MONDO:0010585","Xref__c":"239007005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111664","Source__c":"MONDO:0010585","Xref__c":"DOID:0111664"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162359","Source__c":"C0162359","Xref__c":"C0162359"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57890","Source__c":"C0162359","Xref__c":"MEDGEN:57890"},{"URL__c":"https://www.orpha.net/en/disease/detail/181","Source__c":"C0162359; MONDO:0010585; ORPHA:181","Xref__c":"ORPHA:181"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053358","Source__c":"C0162359","Xref__c":"D053358"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010585","Source__c":"GARD:0010427","Xref__c":"MONDO:0010585"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84562","Source__c":"C0162359","Xref__c":"C84562"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EDA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/eda","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010803","HPO_Synonym__c":"Eclabium of upper lip; Everted prominent upper lip; Everted upper lip; Outward turned upper lip","HPO_Name__c":"Everted upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Frequent (30-79%)","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:181","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:181","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","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:181","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:181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000830","HPO_Name__c":"Anterior hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["anhidrotic ectodermal dysplasia x-linked"," christ siemens touraine syndrome"," christ-siemans-touraine syndrome"," christ-siemens-touraine syndrome"," cst - christ-siemens-touraine syndrome"," cst syndrome"," ectodermal dysplasia 1"," ectodermal dysplasia 1, anhidrotic"," ectodermal dysplasia 1, hypohidrotic, x-linked"," ectodermal dysplasia 1, hypohidrotic, x-linked, x-linked recessive"," ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked"," ectodermal dysplasia, hypohidrotic, 1"," hypohidrotic ectodermal dysplasia, x-linked"," hypohidrotic ectodermal dysplasia, x-linked (xlhed)"," x-linked anhidrotic ectodermal dysplasia"," x-linked hypohidrotic ectodermal dysplasia"," xhed"]}