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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated growth hormone deficiency type IA
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Accession:DOID:0060873 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: Growth hormone deficiency, isolated, autosomal recessive;   IGHD IA;   IGHD1A;   ILLIG-TYPE GROWTH HORMONE DEFICIENCY;   Isolated growth hormone deficiency, type 1b;   Nanism due to growth hormone isolated deficiency;   PRIMORDIAL DWARFISM;   Pituitary Dwarfism 1;   Pituitary Dwarfism I;   Sexual ateleiotic dwarfism
 primary_id: MESH:C537404
 alt_id: OMIM:262400;   RDO:0003244
 xref: ORDO:231662
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isolated growth hormone deficiency type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:8554872
G Dna2 DNA replication helicase/nuclease 2 RGD:8694132
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:12904729
RGD:7240710
G Ghrh growth hormone releasing hormone JBrowse link 3 153,449,124 153,468,794 RGD:13592920
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:8554872
G Poc1a POC1 centriolar protein A JBrowse link 8 114,982,764 115,050,844 RGD:8554872
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      endocrine system disease 4808
        Endocrine Bone Diseases 84
          isolated growth hormone deficiency 28
            isolated growth hormone deficiency type IA 8
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            thalamic disease 187
              hypothalamic disease 187
                pituitary gland disease 145
                  hypopituitarism 40
                    isolated growth hormone deficiency 28
                      isolated growth hormone deficiency type IA 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.