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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: 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;   isolated growth hormone deficiency, autosomal recessive
 primary_id: MESH:C537404
 alt_id: OMIM:262400
 xref: ORDO:231662


show annotations for term's descendants           Sort by:
isolated growth hormone deficiency type IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176 		JBrowse link
G CSHL1 chorionic somatomammotropin hormone like 1 IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:63,909,608...63,911,258
Ensembl chr17:63,909,597...63,911,341 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP DNA:mutation:cds:
ClinVar Annotator: match by term: Pituitary dwarfism 1		 ClinVar
RGD		 PMID:24389050 PMID:25558065 PMID:24389050 RGD:8694132 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1		 ClinVar PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
EXP		 DNA:deletion: :
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:9152628 More... RGD:12904729 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHRH growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More... NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G POC1A POC1 centriolar protein A IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7704
        Endocrine Bone Diseases 404
          isolated growth hormone deficiency 59
            isolated growth hormone deficiency type IA 10
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            hypothalamic disease 557
              pituitary gland disease 285
                hypopituitarism 85
                  isolated growth hormone deficiency 59
                    isolated growth hormone deficiency type IA 10
paths to the root