{"Name":"Hypotrichosis simplex of the scalp","DiseaseID__c":"GARD:0016789","id":16789,"encodedName":"hypotrichosis-simplex-of-the-scalp","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis simplex of the scalp","Xref_IDs__c":"717256009; CN294233; MEDGEN:977122; MONDO:0019575; ORPHA:90368","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019575","Disease_Description__c":"Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.","GARD_Name__c":"Hypotrichosis simplex of the scalp","GARD_Synonym__c":"hereditary hypotrichosis simplex of the scalp","Curated_Disease_Description_Source__c":"MONDO:0019575","Curated_Disease_Description__c":"Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:90368","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019575","ORPHANET_ID__c":"ORPHA:90368","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipotricosis simple del cuero cabelludo","Spanish_Description_Source__c":"ORPHA:90368","Spanish_Description__c":"La hipotricosis simple del cuero cabelludo (HSS, siglas en inglés) se caracteriza por una pérdida progresiva y difusa de pelo, limitada al cuero cabelludo.","Spanish_Disease_Name__c":"hipotricosis simple del cuero cabelludo","Spanish_GARD_Synonym__c":"hipotricosis simple del cuero cabelludo hereditaria","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":"Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.","Curated_Disease_Description_Source__c":"MONDO:0019575","GARD_Synonym__c":"hereditary hypotrichosis simplex of the scalp","Name":"Hypotrichosis simplex of the scalp","estimateUsa":""}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90368"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/90368","Source__c":"CN294233; MONDO:0019575","Xref__c":"ORPHA:90368"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717256009","Source__c":"MONDO:0019575","Xref__c":"717256009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019575","Source__c":"GARD:0016789","Xref__c":"MONDO:0019575"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=977122","Source__c":"CN294233","Xref__c":"MEDGEN:977122"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294233","Source__c":"CN294233","Xref__c":"CN294233"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT74","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CDSN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Absence of facial hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002550","HPO_Synonym__c":"Absent facial hair","HPO_Name__c":"Absent facial hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100134","HPO_Name__c":"Abnormality of the axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Reduced or lacking hair growth in a generalized distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004528","HPO_Synonym__c":"Hypotrichosis, generalized","HPO_Name__c":"Generalized hypotrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Scalp hair whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100038","HPO_Synonym__c":"Slow-growing scalp hair","HPO_Name__c":"Slow-growing scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000499","HPO_Synonym__c":"Abnormal eyelashes; Abnormality of the eyelashes; Eyelash abnormality","HPO_Name__c":"Abnormal eyelash morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000534","HPO_Synonym__c":"Abnormality of the eyebrow","HPO_Name__c":"Abnormal eyebrow morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007550","HPO_Synonym__c":"Lack of sweating or excessive sweating","HPO_Name__c":"Hypohidrosis or hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100133","HPO_Synonym__c":"Abnormality of the pubic hair","HPO_Name__c":"Abnormality of the pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003193","HPO_Synonym__c":"Hay fever; Hayfever","HPO_Name__c":"Allergic rhinitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90368","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hereditary hypotrichosis simplex of the scalp"]}