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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
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Accession:DOID:0060870 term browser browse the term
Definition:A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO)
Synonyms:exact_synonym: Growth Hormone Deficiency Dwarfism;   Hypophysial Dwarf;   Hyposomatotrophic Dwarfism;   IGHD;   Isolated GH Deficiency;   Isolated HGH Deficiency;   Isolated Human Growth Hormone Deficiency;   Isolated Somatotropin Deficiency;   Isolated Somatotropin Deficiency Disorder;   Pituitary Dwarf;   congenital IGHD;   congenital isolated GH deficiency;   congenital isolated growth hormone deficiency;   familial isolated growth hormone deficiency;   non-acquired isolated growth hormone deficiency;   pituitary dwarfism;   pituitary nanism
 broad_synonym: GROWTH HORMONE DEFICIENCY
 primary_id: MESH:D004393
 alt_id: OMIA:000307
 xref: EFO:1001109;   GARD:12556;   ICD9CM:253.3;   NCI:C34555;   OMIM:PS262400;   ORDO:631


show annotations for term's descendants           Sort by:
isolated growth hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr24:37,211,776...37,245,938
Ensembl chr24:37,213,942...37,243,702 		JBrowse link
G GHR growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency ClinVar NCBI chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		JBrowse link
G HPCA hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652 		JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24480542 PMID:29255062 NCBI chr 6:46,960,033...47,044,272
Ensembl chr 6:47,016,038...47,044,236 		JBrowse link
G TG thyroglobulin ISO RGD PMID:3366187 PMID:11089535 RGD:12880373 RGD:730133 NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131 		JBrowse link
G MIR302D microRNA mir-302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101 		JBrowse link
G MIR367 microRNA mir-367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635 		JBrowse link
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHMP2B charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341 NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 OMIM
ClinVar		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533 		JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome OMIM
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
Idiopathic Short Stature, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal OMIM
ClinVar		 PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652 		JBrowse link
G SPAG17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr17:55,248,136...55,468,036
Ensembl chr17:55,248,137...55,467,902 		JBrowse link
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 ISO ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr10:48,840,243...48,851,461
Ensembl chr10:48,839,509...48,851,258 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr 4:19,626,001...19,683,819
Ensembl chr 4:19,626,977...19,684,660 		JBrowse link
G GH1 growth hormone ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:11,832,265...11,834,123
Ensembl chr 9:11,832,265...11,834,123 		JBrowse link
G GHRH growth hormone releasing hormone ISO OMIM:262400 MouseDO NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More... NCBI chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		JBrowse link
G POC1A POC1 centriolar protein A ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chr20:37,592,080...37,659,783
Ensembl chr20:37,544,186...37,681,725 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 3:24,316,598...24,547,463
Ensembl chr 3:24,269,974...24,533,465 		JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB OMIM
ClinVar		 PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr 9:34,638,892...34,742,235
Ensembl chr 9:34,641,601...34,738,352 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,912,223...74,919,327 JBrowse link
G ARMCX1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,424,083...75,428,414
Ensembl chr  X:75,424,336...75,428,402 		JBrowse link
G ARMCX2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,517,183...75,521,486
Ensembl chr  X:75,517,407...75,519,218 		JBrowse link
G ARMCX3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,485,994...75,490,752
Ensembl chr  X:75,487,854...75,488,993 		JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,394,315...75,412,888
Ensembl chr  X:75,397,802...75,405,301 		JBrowse link
G ARMCX6 armadillo repeat containing X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,477,955...75,480,908
Ensembl chr  X:75,478,568...75,479,470 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562 		JBrowse link
G CENPI centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,035,147...75,112,991
Ensembl chr  X:75,035,141...75,211,971 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,758,399...74,782,470
Ensembl chr  X:74,758,496...74,782,194 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,171,816...75,217,777
Ensembl chr  X:75,171,507...75,212,782 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,320,505...75,326,651
Ensembl chr  X:75,324,481...75,325,830 		JBrowse link
G LOC100687687 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr 4:62,275,030...62,275,422 JBrowse link
G LOC102155800 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr17:52,628,292...52,628,713 JBrowse link
G NOX1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,513,473...74,536,446
Ensembl chr  X:74,513,774...74,534,910 		JBrowse link
G SYTL4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,537,937...74,617,580
Ensembl chr  X:74,539,183...74,565,753 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,219,448...75,238,309
Ensembl chr  X:75,220,248...75,239,041 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		JBrowse link
G TMEM35A transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:75,020,157...75,033,714
Ensembl chr  X:75,020,238...75,032,525 		JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,459,111...74,475,010
Ensembl chr  X:74,459,313...74,478,170 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,921,406...75,001,373 JBrowse link
G TSPAN6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,499,684...74,510,079
Ensembl chr  X:74,499,686...74,505,683 		JBrowse link
G XKRX XK related X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,854,947...74,872,918
Ensembl chr  X:74,859,659...74,872,259 		JBrowse link
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNPC3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 OMIM
ClinVar		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 NCBI chr 6:46,960,033...47,044,272
Ensembl chr 6:47,016,038...47,044,236 		JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency OMIM
ClinVar		 PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More... NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 ISO DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      endocrine system disease 6018
        Endocrine Bone Diseases 348
          isolated growth hormone deficiency 52
            Alazami Syndrome 4
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Combined Pituitary Hormone Deficiency, 2 4
            Combined Pituitary Hormone Deficiency, 3 1
            Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
            Idiopathic Short Stature, Autosomal 4
            Isolated Growth Hormone Deficiency Type V 1
            Isolated Growth Hormone Deficiency, Partial 2
            Kowarski Syndrome 0
            Pituitary Dwarfism with Large Sella Turcica 0
            X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
            isolated growth hormone deficiency type IA 8
            isolated growth hormone deficiency type IB 1
            isolated growth hormone deficiency type II 1
            isolated growth hormone deficiency type III 25
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            hypothalamic disease 475
              pituitary gland disease 245
                hypopituitarism 75
                  isolated growth hormone deficiency 52
                    Alazami Syndrome 4
                    CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                    Combined Pituitary Hormone Deficiency, 2 4
                    Combined Pituitary Hormone Deficiency, 3 1
                    Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
                    Idiopathic Short Stature, Autosomal 4
                    Isolated Growth Hormone Deficiency Type V 1
                    Isolated Growth Hormone Deficiency, Partial 2
                    Kowarski Syndrome 0
                    Pituitary Dwarfism with Large Sella Turcica 0
                    X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
                    isolated growth hormone deficiency type IA 8
                    isolated growth hormone deficiency type IB 1
                    isolated growth hormone deficiency type II 1
                    isolated growth hormone deficiency type III 25
paths to the root