Human Phenotype Ontology 
Grandparent Node:
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Hypopituitarism (HP:0040075)help
Parent Node:
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Abnormal circulating hormone concentration (HP:0003117)help
Parent Node:
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Anterior hypopituitarism (HP:0000830)help
..Starting node
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Decreased response to growth hormone stimulation test (HP:0000824)help
Term ID: 824
Name: Decreased response to growth hormone stimulation test
Synonym: Growth hormone deficiency; Somatotropin deficiency
Definition: Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Comments:
Reference: HP:0000824
Genes and Diseases:
 
       Child Nodes:
........expandPituitary dwarfism (HP:0000839) help
........expandSecondary growth hormone deficiency (HP:0008240) help

 Sister Nodes: 
..expandAbnormal prolactin level (HP:0040086) help
..expandAdrenocorticotropic hormone deficiency (HP:0011748) help
..expandGonadotropin deficiency (HP:0008213) help
..expandPanhypopituitarism (HP:0000871) help
..expandPituitary hypothyroidism (HP:0008245) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040284 - Very rare16
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040283 - Occasional8
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly92
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasiaHP:0040281 - Very frequent233
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GH1 CL E G H26884261OMIM:612781Growth hormone deficiency, isolated, type IB50
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GH1 CL E G H26884261OMIM:173100Isolated growth hormone deficiency, type II50
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GHSR CL E G H26934267OMIM:615925Growth hormone deficiency, isolated partial37
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare101
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia21
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040284 - Very rare283
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040284 - Very rare283
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism51
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 2525
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent113
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair27
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 227
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent134
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0RNPC3 CL E G H5559918666OMIM:618160Isolated growth hormone deficiency, type V
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040284 - Very rare104
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency24
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040281 - Very frequent24
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040283 - Occasional80
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare86
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome52
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome166
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 183
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0000824HP:0000824Decreased response to growth hormone stimulation test0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0000824HP:0008240Secondary growth hormone deficiency1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0000824HP:0008240Secondary growth hormone deficiency1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0000824HP:0008240Secondary growth hormone deficiency1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0000824HP:0008240Secondary growth hormone deficiency1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0000824HP:0008240Secondary growth hormone deficiency1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000824HP:0008240Secondary growth hormone deficiency1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000824HP:0008240Secondary growth hormone deficiency1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0000824HP:0008240Secondary growth hormone deficiency1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0000824HP:0008240Secondary growth hormone deficiency1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0000824HP:0008240Secondary growth hormone deficiency1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0000824HP:0033579Decreased growth hormone responses to growth hormone-releasing hormone challenge1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000824HP:0008240Secondary growth hormone deficiency1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0000824HP:0008240Secondary growth hormone deficiency1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0000824HP:0008240Secondary growth hormone deficiency1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0000824HP:0008240Secondary growth hormone deficiency1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0000824HP:0008240Secondary growth hormone deficiency1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0000824HP:0008240Secondary growth hormone deficiency1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent


Genes (133) :ACP5 ADAT3 ADNP AFF4 AIP AKT1 ALMS1 ARNT2 BAP1 BRCC3 BTK CDH23 CDKN1C CDON CEP57 CHD7 CTSK DCAF17 DISP1 DLL1 DNAJC21 DYRK1A EFL1 EIF2S3 ESCO2 FANCF FANCI FGF8 FGFR1 FLNB FOXA2 FOXH1 GAS1 GH1 GHRHR GHSR GLI2 GLI3 GMNN GNAS GNB2 GRB10 GRM7 H19-ICR HERC2 HESX1 IARS2 IGF2 IPW KANSL1 KATNIP KIAA0753 KMT2A LEPR LHX3 LHX4 MADD MAGEL2 MAP2K2 MARS2 MEN1 MKRN3 MKRN3-AS1 MPDU1 NDN NF2 NFKB2 NKX2-1 NODAL NPAP1 OCA2 OTX2 PCSK1 PDE4D PDGFB PIK3CA PITX2 PLCH1 PNPLA6 POLE POLR3A POLR3GL POMC POU1F1 POU3F4 PREPL PRKAR1A PROP1 PTCH1 PWAR1 PWRN1 RBM28 RFWD3 RNPC3 RRAS2 SBDS SHH SIN3A SIX3 SLC29A3 SLC7A7 SMARCB1 SMARCE1 SMC1A SMO SNORD115-1 SNORD116-1 SNRPN SOX3 SRD5A3 SRP54 STAG2 STAT5B STIL STX16 SUFU TBCE TBCK TBX2 TDGF1 TERT TGIF1 THOC2 TMCO1 TMEM67 TP63 TRAF7 VPS13B WASHC5 WDR4 YY1 ZIC2 ZNF148

Diseases (108) :ORPHA:1855 ORPHA:363528 OMIM:615286 OMIM:615873 ORPHA:444077 ORPHA:2965 ORPHA:2495 ORPHA:64 OMIM:203800 OMIM:615926 ORPHA:280679 OMIM:307200 ORPHA:91347 OMIM:614732 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:614114 OMIM:214800 ORPHA:763 ORPHA:3464 ORPHA:811 ORPHA:268261 OMIM:300148 OMIM:216100 OMIM:603467 OMIM:609053 ORPHA:1263 ORPHA:95494 OMIM:612781 OMIM:173100 OMIM:618157 OMIM:615925 OMIM:610829 OMIM:146510 ORPHA:672 OMIM:616835 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:619503 ORPHA:96182 OMIM:618922 OMIM:180860 OMIM:176270 ORPHA:226307 OMIM:182230 ORPHA:436174 OMIM:616007 ORPHA:363958 ORPHA:363965 OMIM:616784 OMIM:619476 ORPHA:319182 OMIM:614963 OMIM:221750 ORPHA:231720 OMIM:619004 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615280 OMIM:616430 ORPHA:79323 ORPHA:293978 OMIM:615577 OMIM:610978 ORPHA:71528 ORPHA:280651 OMIM:180500 OMIM:275400 OMIM:618336 ORPHA:3455 OMIM:619234 ORPHA:71526 OMIM:609734 ORPHA:1435 OMIM:616224 OMIM:101800 ORPHA:90695 ORPHA:157954 OMIM:617784 OMIM:618160 OMIM:618624 OMIM:147250 ORPHA:94065 OMIM:613406 OMIM:602782 ORPHA:470 ORPHA:177907 OMIM:300123 ORPHA:67045 ORPHA:324737 OMIM:245590 OMIM:241410 ORPHA:488632 OMIM:618223 ORPHA:457240 OMIM:213980 OMIM:602152 OMIM:604292 ORPHA:1896 OMIM:216550 OMIM:220210 OMIM:618347 ORPHA:506358 OMIM:617260
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.