Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the anterior pituitary (HP:0011747)

Parent Node:
Hypopituitarism (HP:0040075)

..Starting node
..Anterior hypopituitarism (HP:0000830)

Term ID:

830

Name:

Anterior hypopituitarism

Synonym:

Definition:

A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.

Comments:

Reference:

HP:0000830

Genes and Diseases:

Child Nodes:

........

Growth hormone deficiency (HP:0000824)

................... HP:0000839 Pituitary dwarfism
................... HP:0008240 Secondary growth hormone deficiency

........

Panhypopituitarism (HP:0000871)

........

Gonadotropin deficiency (HP:0008213)

........

Pituitary hypothyroidism (HP:0008245)

........

Adrenocorticotropic hormone deficiency (HP:0011748)

........

Abnormal prolactin level (HP:0040086)

................... HP:0008202 Prolactin deficiency

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000830	HP:0000830	Anterior hypopituitarism	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000830	HP:0000830	Anterior hypopituitarism	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0000830	HP:0000830	Anterior hypopituitarism	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000830	HP:0000830	Anterior hypopituitarism	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0000830	HP:0000830	Anterior hypopituitarism	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0000830	HP:0000830	Anterior hypopituitarism	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000830	HP:0000830	Anterior hypopituitarism	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0000830	HP:0000830	Anterior hypopituitarism	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000830	HP:0000830	Anterior hypopituitarism	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0000830	HP:0000830	Anterior hypopituitarism	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0000830	HP:0000830	Anterior hypopituitarism	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0000830	HP:0000830	Anterior hypopituitarism	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0000830	HP:0000830	Anterior hypopituitarism	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000830	HP:0000830	Anterior hypopituitarism	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	115
HP:0000830	HP:0000830	Anterior hypopituitarism	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	11
HP:0000830	HP:0000830	Anterior hypopituitarism	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly		92
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0000830	HP:0000830	Anterior hypopituitarism	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB		50
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II		50
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4		44
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial		37
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000830	HP:0000830	Anterior hypopituitarism	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0000830	HP:0000830	Anterior hypopituitarism	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000830	HP:0000830	Anterior hypopituitarism	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0000830	HP:0000830	Anterior hypopituitarism	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0000830	HP:0000830	Anterior hypopituitarism	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0000830	HP:0000830	Anterior hypopituitarism	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia		21
HP:0000830	HP:0000830	Anterior hypopituitarism	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000830	HP:0000830	Anterior hypopituitarism	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0000830	HP:0000830	Anterior hypopituitarism	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		25
HP:0000830	HP:0000830	Anterior hypopituitarism	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000830	HP:0000830	Anterior hypopituitarism	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0000830	HP:0000830	Anterior hypopituitarism	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000830	HP:0000830	Anterior hypopituitarism	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000830	HP:0000830	Anterior hypopituitarism	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000830	HP:0000830	Anterior hypopituitarism	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000830	HP:0000830	Anterior hypopituitarism	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0000830	HP:0000830	Anterior hypopituitarism	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.	51
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0000830	HP:0000830	Anterior hypopituitarism	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0000830	HP:0000830	Anterior hypopituitarism	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0000830	HP:0000830	Anterior hypopituitarism	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0000830	HP:0000830	Anterior hypopituitarism	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0000830	HP:0000830	Anterior hypopituitarism	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency		65
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency		27
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair		27
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0000830	HP:0000830	Anterior hypopituitarism	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22		7
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2		54
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0000830	HP:0000830	Anterior hypopituitarism	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0000830	HP:0000830	Anterior hypopituitarism	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent	125
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency		24
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked		24
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency		24
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0000830	HP:0000830	Anterior hypopituitarism	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0000830	HP:0000830	Anterior hypopituitarism	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated		57
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0000830	HP:0000830	Anterior hypopituitarism	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0000830	HP:0000830	Anterior hypopituitarism	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0000830	HP:0000830	Anterior hypopituitarism	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0000830	HP:0000830	Anterior hypopituitarism	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000830	HP:0000830	Anterior hypopituitarism	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0000830	HP:0000830	Anterior hypopituitarism	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0000830	HP:0000830	Anterior hypopituitarism	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000830	HP:0000830	Anterior hypopituitarism	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040284 - Very rare	16
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma		95
HP:0000830	HP:0040086	Abnormal prolactin level	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000830	HP:0040086	Abnormal prolactin level	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma		636
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0000830	HP:0000871	Panhypopituitarism	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000871	Panhypopituitarism	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000871	Panhypopituitarism	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000871	Panhypopituitarism	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000871	Panhypopituitarism	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000830	HP:0008213	Gonadotropin deficiency	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000830	HP:0040086	Abnormal prolactin level	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0000830	HP:0000871	Panhypopituitarism	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000871	Panhypopituitarism	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000871	Panhypopituitarism	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000871	Panhypopituitarism	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000871	Panhypopituitarism	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000830	HP:0000871	Panhypopituitarism	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000871	Panhypopituitarism	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000871	Panhypopituitarism	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000871	Panhypopituitarism	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000871	Panhypopituitarism	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	5
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly		92
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000871	Panhypopituitarism	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000871	Panhypopituitarism	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000871	Panhypopituitarism	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000871	Panhypopituitarism	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000871	Panhypopituitarism	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000830	HP:0008213	Gonadotropin deficiency	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000830	HP:0000871	Panhypopituitarism	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0000830	HP:0000871	Panhypopituitarism	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0000830	HP:0000871	Panhypopituitarism	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0000830	HP:0040086	Abnormal prolactin level	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000871	Panhypopituitarism	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000871	Panhypopituitarism	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000871	Panhypopituitarism	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000871	Panhypopituitarism	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000871	Panhypopituitarism	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000830	HP:0008213	Gonadotropin deficiency	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040280 - Obligate	23
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000871	Panhypopituitarism	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000871	Panhypopituitarism	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000871	Panhypopituitarism	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000871	Panhypopituitarism	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000871	Panhypopituitarism	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB		50
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II		50
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4		44
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial		37
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0040086	Abnormal prolactin level	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000830	HP:0040086	Abnormal prolactin level	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000830	HP:0000871	Panhypopituitarism	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000830	HP:0008213	Gonadotropin deficiency	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0000830	HP:0040086	Abnormal prolactin level	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	101
HP:0000830	HP:0040086	Abnormal prolactin level	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0000830	HP:0000871	Panhypopituitarism	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000830	HP:0040086	Abnormal prolactin level	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0000830	HP:0040086	Abnormal prolactin level	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	21
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0000830	HP:0000871	Panhypopituitarism	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia		21
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000830	HP:0040086	Abnormal prolactin level	1	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040284 - Very rare	283
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040284 - Very rare	283
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000830	HP:0000871	Panhypopituitarism	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000830	HP:0008213	Gonadotropin deficiency	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0000830	HP:0008213	Gonadotropin deficiency	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.	51
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism		51
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	51
HP:0000830	HP:0040086	Abnormal prolactin level	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0000830	HP:0000871	Panhypopituitarism	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0000830	HP:0008213	Gonadotropin deficiency	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040283 - Occasional	51
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0000830	HP:0040086	Abnormal prolactin level	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	43
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0000830	HP:0000871	Panhypopituitarism	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0000830	HP:0040086	Abnormal prolactin level	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000830	HP:0000871	Panhypopituitarism	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma		462
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0000830	HP:0040086	Abnormal prolactin level	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional	11
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0000830	HP:0008213	Gonadotropin deficiency	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0000830	HP:0000871	Panhypopituitarism	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000871	Panhypopituitarism	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000871	Panhypopituitarism	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000871	Panhypopituitarism	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000871	Panhypopituitarism	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0000830	HP:0040086	Abnormal prolactin level	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0000830	HP:0008213	Gonadotropin deficiency	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	113
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0000830	HP:0040086	Abnormal prolactin level	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0000830	HP:0040086	Abnormal prolactin level	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000830	HP:0000871	Panhypopituitarism	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0000830	HP:0008213	Gonadotropin deficiency	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0000830	HP:0008213	Gonadotropin deficiency	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair		27
HP:0000830	HP:0040086	Abnormal prolactin level	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0000830	HP:0000871	Panhypopituitarism	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0000830	HP:0040086	Abnormal prolactin level	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	36
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0000830	HP:0040086	Abnormal prolactin level	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22		7
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	134
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0000830	HP:0040086	Abnormal prolactin level	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	54
HP:0000830	HP:0000871	Panhypopituitarism	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0000830	HP:0040086	Abnormal prolactin level	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0000830	HP:0040086	Abnormal prolactin level	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0000830	HP:0000871	Panhypopituitarism	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0000830	HP:0040086	Abnormal prolactin level	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2		54
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000871	Panhypopituitarism	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000871	Panhypopituitarism	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000871	Panhypopituitarism	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000871	Panhypopituitarism	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000871	Panhypopituitarism	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000871	Panhypopituitarism	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0040086	Abnormal prolactin level	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	26
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000871	Panhypopituitarism	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000871	Panhypopituitarism	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000871	Panhypopituitarism	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000871	Panhypopituitarism	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000871	Panhypopituitarism	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000830	HP:0000871	Panhypopituitarism	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040284 - Very rare	104
HP:0000830	HP:0040086	Abnormal prolactin level	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0000830	HP:0040086	Abnormal prolactin level	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0000830	HP:0000871	Panhypopituitarism	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0000830	HP:0040086	Abnormal prolactin level	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency		24
HP:0000830	HP:0000871	Panhypopituitarism	1	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	.	24
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0000830	HP:0040086	Abnormal prolactin level	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0000830	HP:0000871	Panhypopituitarism	1	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked	.	24
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040281 - Very frequent	24
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0000830	HP:0000871	Panhypopituitarism	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000871	Panhypopituitarism	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000871	Panhypopituitarism	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000871	Panhypopituitarism	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000871	Panhypopituitarism	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000871	Panhypopituitarism	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	86
HP:0000830	HP:0040086	Abnormal prolactin level	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0000830	HP:0000871	Panhypopituitarism	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000830	HP:0000871	Panhypopituitarism	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000871	Panhypopituitarism	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000871	Panhypopituitarism	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000871	Panhypopituitarism	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000871	Panhypopituitarism	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0000830	HP:0040086	Abnormal prolactin level	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000871	Panhypopituitarism	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000830	HP:0040086	Abnormal prolactin level	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000830	HP:0040086	Abnormal prolactin level	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0000830	HP:0008245	Pituitary hypothyroidism	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000830	HP:0000871	Panhypopituitarism	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000871	Panhypopituitarism	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000871	Panhypopituitarism	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000871	Panhypopituitarism	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000871	Panhypopituitarism	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000830	HP:0000824	Decreased response to growth hormone stimulation test	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000830	HP:0011748	Adrenocorticotropic hormone deficiency	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040284 - Very rare	101
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0000830	HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional	1
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0000830	HP:0008240	Secondary growth hormone deficiency	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000830	HP:0008202	Reduced circulating prolactin concentration	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2

Genes (176) :AAAS ACP5 ADAT3 ADNP AFF4 AIP AKT1 ALMS1 ANOS1 ARNT2 ATP8 B3GLCT BAP1 BMP4 BRAF BRCC3 BTK CCDC141 CDH23 CDKN1C CDKN2A CDON CEP57 CHD7 CTNNB1 CTSK DBH DCAF17 DCC DISP1 DLL1 DNAJC21 DUSP6 DYRK1A EDA EDA2R EFL1 EIF2S3 ESCO2 FANCF FANCI FEZF1 FGF17 FGF8 FGFR1 FLNB FLRT3 FOXA2 FOXH1 FSHB GAS1 GH1 GHRHR GHSR GLI2 GLI3 GMNN GMPPA GNAS GNB2 GPR101 GRB10 GRM7 H19-ICR HERC2 HESX1 HID1 HS6ST1 IARS2 IGF2 IGSF1 IL17RD IPW KANSL1 KATNIP KIAA0753 KISS1R KMT2A LEP LEPR LHX3 LHX4 MADD MAGEL2 MAP2K2 MARS2 MEN1 MKRN3 MKRN3-AS1 MPDU1 NDN NDNF NF2 NFKB2 NKX2-1 NODAL NPAP1 OCA2 OTX2 PCSK1 PDE4D PDGFB PIK3CA PITX2 PLCH1 PNPLA6 POLE POLR3A POLR3GL POMC POU1F1 POU3F4 PREPL PRKAR1A PROK2 PROKR2 PROP1 PTCH1 PWAR1 PWRN1 RBM28 RFWD3 RNPC3 RRAS2 RRM2B SBDS SEMA3A SEMA3E SHH SIN3A SIX3 SLC29A3 SLC7A7 SMARCB1 SMARCE1 SMC1A SMO SNORD115-1 SNORD116-1 SNRPN SOX10 SOX3 SPRY4 SRD5A3 SRP54 STAG2 STAT5B STIL STX16 SUFU TACR3 TBCE TBCK TBX19 TBX2 TDGF1 TERT TGIF1 THOC2 TMCO1 TMEM67 TP53 TP63 TRAF7 TRAPPC11 TRHR TRNL1 TSHB VPS13B WASHC5 WDR11 WDR4 YY1 ZIC2 ZNF148 ZNRF3

Diseases (136) :ORPHA:869 ORPHA:1855 ORPHA:363528 OMIM:615286 OMIM:615873 ORPHA:444077 ORPHA:963 ORPHA:2965 ORPHA:2495 ORPHA:64 OMIM:203800 ORPHA:478 OMIM:615926 ORPHA:480 ORPHA:709 OMIM:607932 ORPHA:54595 ORPHA:280679 OMIM:307200 ORPHA:91347 OMIM:614732 ORPHA:1501 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:614114 OMIM:214800 ORPHA:138 ORPHA:763 OMIM:223360 ORPHA:3464 ORPHA:811 ORPHA:268261 ORPHA:181 OMIM:300148 OMIM:216100 OMIM:603467 OMIM:609053 OMIM:615465 ORPHA:1263 ORPHA:95494 ORPHA:52901 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 OMIM:619983 ORPHA:436174 OMIM:616007 OMIM:300888 ORPHA:363958 ORPHA:363965 OMIM:616784 OMIM:619476 OMIM:614837 ORPHA:319182 ORPHA:66628 OMIM:614963 ORPHA:179494 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 OMIM:613038 ORPHA:1435 OMIM:616224 OMIM:101800 ORPHA:90695 OMIM:262600 OMIM:610828 ORPHA:157954 OMIM:617784 OMIM:618160 OMIM:618624 OMIM:147250 ORPHA:94065 OMIM:613406 OMIM:602782 ORPHA:470 OMIM:241800 ORPHA:177907 OMIM:300123 OMIM:312000 ORPHA:67045 ORPHA:324737 OMIM:245590 OMIM:241410 ORPHA:488632 OMIM:201400 OMIM:618223 ORPHA:457240 OMIM:213980 OMIM:602152 OMIM:604292 ORPHA:1896 ORPHA:99832 ORPHA:90674 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.

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