{"Name":"Hypogonadotropic hypogonadism 7 with or without anosmia","DiseaseID__c":"GARD:0002897","id":2897,"encodedName":"hypogonadotropic-hypogonadism-7-with-or-without-anosmia","IsDeleted":false,"Disease_Name_Full__c":"Hypogonadotropic hypogonadism 7 with or without anosmia","Xref_IDs__c":"123953004; C0342384; C562785; DOID:0090078; MEDGEN:87440; MONDO:0007794; OMIM:146110","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:0007794","Disease_Description__c":"A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.","GARD_Name__c":"Hypogonadotropic hypogonadism 7 with or without anosmia","GARD_Synonym__c":"hh7; hypogonadotropic hypogonadism 7 without anosmia; idiopathic gonadotrophin deficiency; idiopathic hypogonadotropic hypogonadism","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Hypogonadotropic hypogonadism 7 with or without anosmia is a condition where a person's sexual development remains incomplete or absent by the age of 18. This happens because the body doesn't produce enough hormones that are needed for sexual development. This disease is caused by gene variants in the gonadotropin-releasing hormone receptor (GNRHR). It is inherited in an autosomal recessive manner. Some people with hypogonadotropic hypogonadism 7 may also have other problems like difficulty smelling, a cleft palate, or hearing loss. When a person has difficulty smelling, the condition is called Kallmann syndrome (KS). When a person has a normal sense of smell, it is called normosmic idiopathic hypogonadotropic hypogonadism (nIHH).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:146110","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007794","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":"Hypogonadotropic hypogonadism 7 with or without anosmia is a condition where a person's sexual development remains incomplete or absent by the age of 18. This happens because the body doesn't produce enough hormones that are needed for sexual development. This disease is caused by gene variants in the gonadotropin-releasing hormone receptor (GNRHR). It is inherited in an autosomal recessive manner. Some people with hypogonadotropic hypogonadism 7 may also have other problems like difficulty smelling, a cleft palate, or hearing loss. When a person has difficulty smelling, the condition is called Kallmann syndrome (KS). When a person has a normal sense of smell, it is called normosmic idiopathic hypogonadotropic hypogonadism (nIHH).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"hh7; hypogonadotropic hypogonadism 7 without anosmia; idiopathic gonadotrophin deficiency; idiopathic hypogonadotropic hypogonadism","Name":"Hypogonadotropic hypogonadism 7 with or without anosmia","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002897","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1334","Source__c":"Gene Review","Xref__c":"NBK1334"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87440","Source__c":"C0342384","Xref__c":"MEDGEN:87440"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=123953004","Source__c":"C0342384; MONDO:0007794","Xref__c":"123953004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342384","Source__c":"C0342384","Xref__c":"C0342384"},{"URL__c":"https://www.omim.org/entry/146110","Source__c":"C0342384; MONDO:0007794","Xref__c":"OMIM:146110"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090078","Source__c":"MONDO:0007794","Xref__c":"DOID:0090078"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562785","Source__c":"MONDO:0007794","Xref__c":"C562785"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007794","Source__c":"GARD:0002897","Xref__c":"MONDO:0007794"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNRHR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:146110","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:146110","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:146110","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":"OMIM:146110","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:146110","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:146110","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:146110","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000789","HPO_Synonym__c":"Infertility","HPO_Name__c":"Infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:146110","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["hh7"," hypogonadotropic hypogonadism 7 without anosmia"," idiopathic gonadotrophin deficiency"," idiopathic hypogonadotropic hypogonadism"]}