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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:hypopituitarism
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Accession:DOID:9406 term browser browse the term
Definition:Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.
Synonyms:exact_synonym: Adenohypophyseal Hyposecretion;   Anterior Pituitary Hyposecretion Syndrome;   pituitary hormone deficiency;   pituitary hypofunction;   pituitary insufficiency
 primary_id: MESH:D007018
 xref: GARD:2917;   NCI:C62591;   ORDO:95494
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 1:120,596,235...120,627,806
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,741
JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C RGD PMID:9768691 RGD:1601503 NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270
JBrowse link
G SOX3 SRY-box transcription factor 3 ISO RGD PMID:14981518 RGD:1300422 NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 PMID:28492532 PMID:30576320 PMID:31273949 NCBI chr 6:144,206,078...144,229,471
Ensembl chr 6:144,206,077...144,293,709
JBrowse link
G TBX19 T-box transcription factor 19 ISO OMIM NCBI chr 4:82,663,121...82,699,261
Ensembl chr 4:82,663,581...82,697,813
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO OMIM NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
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 OMIM NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,700...9,737,192
JBrowse link
Combined Pituitary Hormone Deficiency, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr 9:121,913,050...122,116,031
Ensembl chr 9:121,913,050...122,115,783
JBrowse link
G CHMP2B charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr13:168,534,950...168,569,574
Ensembl chr13:168,533,693...168,569,567
JBrowse link
G HESX1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive
ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 NCBI chr13:39,046,961...39,088,926
Ensembl chr13:39,046,465...39,088,875
JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar PMID:28492532
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr 9:121,850,997...121,898,622
Ensembl chr 9:121,851,232...121,898,605
JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO OMIM NCBI chr13:168,510,671...168,530,394
Ensembl chr13:168,510,774...168,529,345
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:26467025 PMID:28492532 NCBI chr13:168,534,950...168,569,574
Ensembl chr13:168,533,693...168,569,567
JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar
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 NCBI chr13:168,510,671...168,530,394
Ensembl chr13:168,510,774...168,529,345
JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO OMIM NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270
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 OMIM
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr 9:121,913,050...122,116,031
Ensembl chr 9:121,913,050...122,115,783
JBrowse link
G LHX4 LIM homeobox 4 ISO OMIM NCBI chr 9:121,850,997...121,898,622
Ensembl chr 9:121,851,232...121,898,605
JBrowse link
Combined Pituitary Hormone Deficiency, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HESX1 HESX homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 5
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies
CTD
ClinVar
PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 NCBI chr13:39,046,961...39,088,926
Ensembl chr13:39,046,465...39,088,875
JBrowse link
Combined Pituitary Hormone Deficiency, 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 9:121,913,050...122,116,031
Ensembl chr 9:121,913,050...122,115,783
JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 9:121,850,997...121,898,622
Ensembl chr 9:121,851,232...121,898,605
JBrowse link
G OTX2 orthodenticle homeobox 2 ISO OMIM NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229
JBrowse link
Culler-Jones syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 ISO OMIM NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 ISO OMIM NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
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 OMIM NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,286...27,422,268
JBrowse link
G GHSR growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,981,604...111,107,423
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 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,785
JBrowse link
G SPAG17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 4:102,596,465...102,826,213 JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
JBrowse link
G GHR growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,286...27,422,268
JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar Annotator: match by term: Isolated growth hormone deficiency
DNA:deletion
RGD
ClinVar
PMID:8528260 PMID:9845677 RGD:1601337 RGD:1601338 NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184
JBrowse link
G GHSR growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,981,604...111,107,423
JBrowse link
G HPCA hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 6:89,187,544...89,197,049
Ensembl chr 6:89,186,670...89,200,441
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 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,785
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr 1:43,449,354...43,458,925 JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism
Dwarfism, pituitary, generic
CTD
OMIA
PMID:245902 PMID:462708 PMID:642476 PMID:723236 PMID:838602 PMID:980693 PMID:1178442 PMID:2061865 PMID:2295557 PMID:4055523 PMID:4449724 PMID:6247812 PMID:8116157 PMID:9392392 PMID:9444634 PMID:9532423 PMID:10399248 PMID:10602989 PMID:10789512 PMID:11064220 PMID:11996393 PMID:12431796 PMID:16271735 PMID:16624355 PMID:21287722 PMID:22105877 PMID:22132174 PMID:25273400 PMID:25586673 PMID:33550451 NCBI chr13:168,510,671...168,530,394
Ensembl chr13:168,510,774...168,529,345
JBrowse link
G TG thyroglobulin ISO RGD PMID:3366187 PMID:11089535 RGD:12880373 RGD:730133 NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
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: Primordial dwarfism ClinVar PMID:24389050 PMID:25558065 NCBI chr11:8,805,950...8,858,128 JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: PITUITARY DWARFISM I
ClinVar Annotator: match by term: Primordial dwarfism
ClinVar PMID:24389050 PMID:25558065 NCBI chr 3:93,911,425...93,925,916 JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds:
ClinVar Annotator: match by term: Primordial dwarfism
RGD
ClinVar
PMID:24389050 PMID:25558065 RGD:8694132 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,549,815...71,651,089
JBrowse link
G POC1A POC1 centriolar protein A ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:22840364 PMID:25558065 PMID:25741868 NCBI chr13:34,227,884...34,308,099
Ensembl chr13:34,199,409...34,313,073
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 2:91,358,348...91,643,697
Ensembl chr 2:91,358,399...91,811,208
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
ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 PMID:10944436 PMID:10946881 PMID:11232012 PMID:11298081 PMID:11443201 PMID:11502843 PMID:11875102 PMID:12163232 PMID:12181638 PMID:12414875 PMID:12788864 PMID:12794696 PMID:16284391 PMID:16522693 PMID:17356054 PMID:17911170 PMID:18297129 PMID:19622623 PMID:21044116 PMID:22489751 PMID:25541890 PMID:25741868 PMID:28492532 NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184
JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO OMIM NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
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 OMIM NCBI chr 4:115,279,557...115,311,960
Ensembl chr 4:115,251,717...115,311,652
JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHSR growth hormone secretagogue receptor ISO OMIM NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,981,604...111,107,423
JBrowse link
panhypopituitarism 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: Pituitary hormone deficiency, combined ClinVar PMID:16940453 PMID:25741868 PMID:28492532
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229
JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:28492532 NCBI chr13:168,510,671...168,530,394
Ensembl chr13:168,510,774...168,529,345
JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:15963055 PMID:18157385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457 JBrowse link
RHYNS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: RHYNS syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa syndrome
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:28492532 PMID:29891882 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr15:32,064,431...32,175,095 JBrowse link
G MAGEL2 MAGE family member L2 ISO OMIM NCBI chr 1:142,450,414...142,454,633
Ensembl chr 1:142,448,689...142,454,697
JBrowse link
G SIM1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr 1:67,213,685...67,294,455
Ensembl chr 1:67,214,337...67,294,397
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)
ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency
RGD
ClinVar
PMID:8826446 PMID:12428212 RGD:11535974 NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578
JBrowse link
X-Linked Mental Retardation with Panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 ISO OMIM NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578
JBrowse link
X-linked panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 ISO OMIM NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13608
    disease of anatomical entity 13264
      endocrine system disease 5002
        pituitary gland disease 132
          hypopituitarism 39
            Combined Pituitary Hormone Deficiency, 5 1
            Congenital Hypopituitarism with Central Diabetes Insipidus 0
            Culler-Jones syndrome 1
            Dincsoy Salih Patel Syndrome 0
            Kaplowitz Bodurtha syndrome 0
            Prolactin Deficiency with Obesity and Enlarged Testes 0
            RHYNS Syndrome 1
            Schaaf-Yang syndrome 3
            Sheehan syndrome 0
            adrenocorticotropic hormone deficiency 2
            holoprosencephaly 9 1
            isolated growth hormone deficiency + 25
            panhypopituitarism + 10
Path 2
Term Annotations click to browse term
  disease 13608
    disease of anatomical entity 13264
      nervous system disease 11034
        central nervous system disease 9660
          brain disease 9065
            thalamic disease 183
              hypothalamic disease 183
                pituitary gland disease 132
                  hypopituitarism 39
                    Combined Pituitary Hormone Deficiency, 5 1
                    Congenital Hypopituitarism with Central Diabetes Insipidus 0
                    Culler-Jones syndrome 1
                    Dincsoy Salih Patel Syndrome 0
                    Kaplowitz Bodurtha syndrome 0
                    Prolactin Deficiency with Obesity and Enlarged Testes 0
                    RHYNS Syndrome 1
                    Schaaf-Yang syndrome 3
                    Sheehan syndrome 0
                    adrenocorticotropic hormone deficiency 2
                    holoprosencephaly 9 1
                    isolated growth hormone deficiency + 25
                    panhypopituitarism + 10
paths to the root