{"Name":"Short stature due to partial GHR deficiency","DiseaseID__c":"GARD:0017435","id":17435,"encodedName":"short-stature-due-to-partial-ghr-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Short stature due to partial GHR deficiency","Xref_IDs__c":"C1858656; C565805; MEDGEN:346958; MONDO:0011420; OMIM:604271; ORPHA:314802","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011420","Disease_Description__c":"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.","GARD_Name__c":"Short stature due to partial GHR deficiency","GARD_Synonym__c":"growth hormone deficiency, isolated partial; growth hormone insensitivity, partial; growth hormone, insensitivity to, partial; short stature due to partial growth hormone receptor deficiency","Curated_Disease_Description_Source__c":"MONDO:0011420","Curated_Disease_Description__c":"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:314802","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011420","ORPHANET_ID__c":"ORPHA:314802","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Talla baja por deficiencia parcial de ghr","Spanish_Description_Source__c":"ORPHA:314802","Spanish_Description__c":"La talla baja por deficiencia parcial de GHR es una enfermedad endocrina, genética y poco frecuente, caracterizada por talla baja idiopática debida a la disminución de la función del GHR (disminución de la unión del ligando o disponibilidad reducida del receptor), lo que resulta en una insensibilidad parcial a la hormona del crecimiento.","Spanish_Disease_Name__c":"talla baja por deficiencia parcial de ghr","Spanish_GARD_Synonym__c":"talla baja por deficiencia parcial del receptor de la hormona de crecimiento","Category_Linearization__c":"ORPHA:97978","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":"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.","Curated_Disease_Description_Source__c":"MONDO:0011420","GARD_Synonym__c":"growth hormone deficiency, isolated partial; growth hormone insensitivity, partial; growth hormone, insensitivity to, partial; short stature due to partial growth hormone receptor deficiency","Name":"Short stature due to partial GHR deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.org/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:314802"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346958","Source__c":"C1858656","Xref__c":"MEDGEN:346958"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565805","Source__c":"MONDO:0011420","Xref__c":"C565805"},{"URL__c":"https://www.omim.org/entry/604271","Source__c":"C1858656; MONDO:0011420; ORPHA:314802","Xref__c":"OMIM:604271"},{"URL__c":"https://www.orpha.net/en/disease/detail/314802","Source__c":"C1858656; MONDO:0011420","Xref__c":"ORPHA:314802"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858656","Source__c":"C1858656","Xref__c":"C1858656"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011420","Source__c":"GARD:0017435","Xref__c":"MONDO:0011420"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GHR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ghr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:314802","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314802","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:314802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314802","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314802","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030353","HPO_Name__c":"Decreased circulating serum insulin-like growth factor 1 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["growth hormone deficiency, isolated partial"," growth hormone insensitivity, partial"," growth hormone, insensitivity to, partial"," short stature due to partial growth hormone receptor deficiency"]}