{"Name":"Hypotrichosis 7","DiseaseID__c":"GARD:0008178","id":8178,"encodedName":"hypotrichosis-7","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis 7","Xref_IDs__c":"C1836672; C536973; DOID:0110704; MEDGEN:322969; MONDO:0011452; OMIM:604379","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011452","Disease_Description__c":"Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.","GARD_Name__c":"Hypotrichosis 7","GARD_Synonym__c":"hypotrichosis caused by mutation in liph; hypotrichosis type 7; hypotrichosis, autosomal recessive; hypotrichosis, localized, autosomal recessive 2; hypt7; lah2; liph hypotrichosis; total mari type hypotrichosis,; woolly hair, autosomal recessive 2 with or without hypotrichosis; wooly hair, autosomal recessive 2 with or without hypotrichosis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Hypotrichosis 7 is a condition where a person has very little hair or woolly hair. This can happen when a person has two copies of a changed gene called LIPH. This gene is found on chromosome 3q27.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:604379","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011452","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 7 is a condition where a person has very little hair or woolly hair. This can happen when a person has two copies of a changed gene called LIPH. This gene is found on chromosome 3q27.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"hypotrichosis caused by mutation in liph; hypotrichosis type 7; hypotrichosis, autosomal recessive; hypotrichosis, localized, autosomal recessive 2; hypt7; lah2; liph hypotrichosis; total mari type hypotrichosis,; woolly hair, autosomal recessive 2 with or without hypotrichosis; wooly hair, autosomal recessive 2 with or without hypotrichosis","Name":"Hypotrichosis 7","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008178","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536973","Source__c":"MONDO:0011452","Xref__c":"C536973"},{"URL__c":"https://www.omim.org/entry/604379","Source__c":"C1836672; MONDO:0011452","Xref__c":"OMIM:604379"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110704","Source__c":"MONDO:0011452","Xref__c":"DOID:0110704"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836672","Source__c":"C1836672","Xref__c":"C1836672"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322969","Source__c":"C1836672","Xref__c":"MEDGEN:322969"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011452","Source__c":"GARD:0008178","Xref__c":"MONDO:0011452"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LIPH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/liph","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604379","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":"OMIM:604379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025249","HPO_Name__c":"Comedo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604379","Feature__r":{"HPO_Description__c":"Fragile, easily breakable hair, i.e., with reduced tensile strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002299","HPO_Synonym__c":"Brittle hair","HPO_Name__c":"Brittle hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604379","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:604379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604379","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":"OMIM:604379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["hypotrichosis caused by mutation in liph"," hypotrichosis type 7"," hypotrichosis, autosomal recessive"," hypotrichosis, localized, autosomal recessive 2"," hypt7"," lah2"," liph hypotrichosis"," total mari type hypotrichosis,"," woolly hair, autosomal recessive 2 with or without hypotrichosis"," wooly hair, autosomal recessive 2 with or without hypotrichosis"]}