{"Name":"Isolated growth hormone deficiency type IB","DiseaseID__c":"GARD:0003919","id":3919,"encodedName":"isolated-growth-hormone-deficiency-type-ib","IsDeleted":false,"Disease_Name_Full__c":"Isolated growth hormone deficiency type IB","Xref_IDs__c":"C2748571; C567564; DOID:0060874; MEDGEN:411242; MONDO:0013006; OMIM:612781; ORPHA:231671","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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013006","Disease_Description__c":"An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.","GARD_Name__c":"Isolated growth hormone deficiency type IB","GARD_Synonym__c":"congenital ighd type ib; congenital isolated gh deficiency type ib; congenital isolated growth hormone deficiency type ib; dwarfism of sindh; growth hormone deficiency, isolated, type ib; ighd 1b; ighd ib; ighd1b","Curated_Disease_Description_Source__c":"MONDO:0013006","Curated_Disease_Description__c":"An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231671","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013006","ORPHANET_ID__c":"ORPHA:231671","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia aislada de hormona de crecimiento tipo ib","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia aislada de hormona de crecimiento tipo ib","Spanish_GARD_Synonym__c":"deficiencia congénita aislada de gh tipo ib; deficiencia congénita aislada de hormona de crecimiento tipo ib; ighd congénito tipo ib","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":"An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.","Curated_Disease_Description_Source__c":"MONDO:0013006","GARD_Synonym__c":"congenital ighd type ib; congenital isolated gh deficiency type ib; congenital isolated growth hormone deficiency type ib; dwarfism of sindh; growth hormone deficiency, isolated, type ib; ighd 1b; ighd ib; ighd1b","Name":"Isolated growth hormone deficiency type IB","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Raymond A. Wood Foundation","Website__c":"https://www.rawoodfoundation.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":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231671"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231671"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2748571"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003919","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748571","Source__c":"C2748571","Xref__c":"C2748571"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411242","Source__c":"C2748571","Xref__c":"MEDGEN:411242"},{"URL__c":"https://www.orpha.net/en/disease/detail/231671","Source__c":"C2748571; MONDO:0013006; ORPHA:231671","Xref__c":"ORPHA:231671"},{"URL__c":"https://www.omim.org/entry/612781","Source__c":"C2748571; MONDO:0013006; ORPHA:231671","Xref__c":"OMIM:612781"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060874","Source__c":"MONDO:0013006","Xref__c":"DOID:0060874"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567564","Source__c":"MONDO:0013006","Xref__c":"C567564"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013006","Source__c":"GARD:0003919","Xref__c":"MONDO:0013006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612781","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":"OMIM:612781","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"}},{"Provided_By__c":"OMIM:612781","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612781","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":"OMIM:612781","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of growth hormone in the blood circulation below normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034323","HPO_Synonym__c":"Growth hormone deficiency; Somatotropin deficiency","HPO_Name__c":"Reduced circulating growth hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612781","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Small hands and feet in proportion to the rest of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031878","HPO_Name__c":"Acromicria","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["congenital ighd type ib"," congenital isolated gh deficiency type ib"," congenital isolated growth hormone deficiency type ib"," dwarfism of sindh"," growth hormone deficiency, isolated, type ib"," ighd 1b"," ighd ib"," ighd1b"]}