{"Name":"Ateleiotic dwarfism","DiseaseID__c":"GARD:0007399","id":7399,"encodedName":"ateleiotic-dwarfism","IsDeleted":false,"Disease_Name_Full__c":"Ateleiotic dwarfism","Xref_IDs__c":"237837007; 71003000; C0342573; C537404; DOID:0060873; MEDGEN:90986; MONDO:0009876; OMIM:262400; ORPHA:231662","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009876","Disease_Description__c":"An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.","GARD_Name__c":"Ateleiotic dwarfism","GARD_Synonym__c":"ateliotic dwarfism; autosomal recessive isolated growth hormone deficiency; congenital ighd type ia; congenital isolated gh deficiency type ia; congenital isolated growth hormone deficiency type ia; growth hormone deficiency, isolated autosomal recessive; growth hormone deficiency, isolated, type ia; hypopituitary dwarfism with normal sexual characteristics; idiopathic pituitary dwarfism; ighd ia; ighd1a; illig type growth hormone deficiency; illig-type growth hormone deficiency; isolated growth hormone deficiency type 1a; isolated growth hormone deficiency type ia; isolated growth hormone deficiency, type ia; pituitary dwarfism 1; pituitary dwarfism i; primordial dwarfism; sexual ateleiotic dwarfism; sexual ateliotic dwarfism; sexual dwarfism","Curated_Disease_Description_Source__c":"MONDO:9876","Curated_Disease_Description__c":"An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation. It is caused by mutations in the GH1 gene on chromosome 17q23.3.","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:231662","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009876","ORPHANET_ID__c":"ORPHA:231662","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia aislada de hormona de crecimiento tipo ia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia aislada de hormona de crecimiento tipo ia","Spanish_GARD_Synonym__c":"deficiencia congénita aislada de gh tipo ia; deficiencia congénita aislada de hormona de crecimiento tipo ia; ighd congénito tipo ia","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 severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation. It is caused by mutations in the GH1 gene on chromosome 17q23.3.","Curated_Disease_Description_Source__c":"MONDO:9876","GARD_Synonym__c":"ateliotic dwarfism; autosomal recessive isolated growth hormone deficiency; congenital ighd type ia; congenital isolated gh deficiency type ia; congenital isolated growth hormone deficiency type ia; growth hormone deficiency, isolated autosomal recessive; growth hormone deficiency, isolated, type ia; hypopituitary dwarfism with normal sexual characteristics; idiopathic pituitary dwarfism; ighd ia; ighd1a; illig type growth hormone deficiency; illig-type growth hormone deficiency; isolated growth hormone deficiency type 1a; isolated growth hormone deficiency type ia; isolated growth hormone deficiency, type ia; pituitary dwarfism 1; pituitary dwarfism i; primordial dwarfism; sexual ateleiotic dwarfism; sexual ateliotic dwarfism; sexual dwarfism","Name":"Ateleiotic dwarfism","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":"Neonatal","Provided_By__c":"ORPHA:231662"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231662"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007399","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237837007","Source__c":"MONDO:0009876","Xref__c":"237837007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90986","Source__c":"C0342573","Xref__c":"MEDGEN:90986"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342573","Source__c":"C0342573","Xref__c":"C0342573"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060873","Source__c":"MONDO:0009876","Xref__c":"DOID:0060873"},{"URL__c":"https://www.orpha.net/en/disease/detail/231662","Source__c":"C0342573; MONDO:0009876","Xref__c":"ORPHA:231662"},{"URL__c":"https://www.omim.org/entry/262400","Source__c":"C0342573; MONDO:0009876; ORPHA:231662","Xref__c":"OMIM:262400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537404","Source__c":"MONDO:0009876","Xref__c":"C537404"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009876","Source__c":"GARD:0007399","Xref__c":"MONDO:0009876"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=71003000","Source__c":"C0342573","Xref__c":"71003000"}],"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:262400","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"}},{"Provided_By__c":"OMIM:262400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262400","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:262400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262400","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:262400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004474","HPO_Synonym__c":"Front fontanelle stays open; Persistent, open anterior fontanel","HPO_Name__c":"Persistent open anterior fontanelle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased height of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000348","HPO_Synonym__c":"High forehead","HPO_Name__c":"High forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262400","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["ateliotic dwarfism"," autosomal recessive isolated growth hormone deficiency"," congenital ighd type ia"," congenital isolated gh deficiency type ia"," congenital isolated growth hormone deficiency type ia"," growth hormone deficiency, isolated autosomal recessive"," growth hormone deficiency, isolated, type ia"," hypopituitary dwarfism with normal sexual characteristics"," idiopathic pituitary dwarfism"," ighd ia"," ighd1a"," illig type growth hormone deficiency"," illig-type growth hormone deficiency"," isolated growth hormone deficiency type 1a"," isolated growth hormone deficiency type ia"," isolated growth hormone deficiency, type ia"," pituitary dwarfism 1"," pituitary dwarfism i"," primordial dwarfism"," sexual ateleiotic dwarfism"," sexual ateliotic dwarfism"," sexual dwarfism"]}