Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 brain morphology (HP:0012443)

Grandparent Node:
Abnormality of the hypothalamus-pituitary axis (HP:0000864)

Parent Node:
Abnormality of the pituitary gland (HP:0012503)

..Starting node
..Abnormality of the posterior pituitary (HP:0011751)

Term ID:

11751

Name:

Abnormality of the posterior pituitary

Synonym:

Abnormality of the neurohypophysis

Definition:

An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.

Comments:

Reference:

HP:0011751

Genes and Diseases:

Child Nodes:

........

Central diabetes insipidus (HP:0000863)

........

Neoplasm of the posterior pituitary (HP:0011752)

................... HP:0011754 Pituicytoma

........

Posterior pituitary dysgenesis (HP:0011753)

................... HP:0011755 Ectopic posterior pituitary
................... HP:0011756 Posterior pituitary agenesis
................... HP:0011757 Posterior pituitary hypoplasia

Sister Nodes:

Abnormal size of pituitary gland (HP:0012504)

Abnormal thyroid-stimulating hormone level (HP:0031097)

Abnormality of the anterior pituitary (HP:0011747)

Prolactinoma (HP:0040278)

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:0011751	HP:0011751	Abnormality of the posterior pituitary	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type		22
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly		200
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly		22
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly		3
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly		17
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly		48
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly		2
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly		173
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly		45
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly		665
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly		67
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency		24
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly		99
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly		1
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome		389
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0011751	HP:0011751	Abnormality of the posterior pituitary	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly		34
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0011751	HP:0000863	Central diabetes insipidus	1	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0011751	HP:0000863	Central diabetes insipidus	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0011751	HP:0000863	Central diabetes insipidus	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0011751	HP:0000863	Central diabetes insipidus	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0011751	HP:0000863	Central diabetes insipidus	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0011751	HP:0000863	Central diabetes insipidus	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0011751	HP:0000863	Central diabetes insipidus	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011751	HP:0000863	Central diabetes insipidus	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0011751	HP:0000863	Central diabetes insipidus	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0011751	HP:0000863	Central diabetes insipidus	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0011751	HP:0000863	Central diabetes insipidus	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0011751	HP:0000863	Central diabetes insipidus	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0011751	HP:0000863	Central diabetes insipidus	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0011751	HP:0000863	Central diabetes insipidus	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0011751	HP:0000863	Central diabetes insipidus	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency		24
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0011751	HP:0000863	Central diabetes insipidus	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0011751	HP:0000863	Central diabetes insipidus	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0011751	HP:0000863	Central diabetes insipidus	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0011751	HP:0000863	Central diabetes insipidus	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0011751	HP:0011752	Neoplasm of the posterior pituitary	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0011751	HP:0011753	Posterior pituitary dysgenesis	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0011751	HP:0000863	Central diabetes insipidus	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent	389
HP:0011751	HP:0000863	Central diabetes insipidus	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0011751	HP:0000863	Central diabetes insipidus	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34
HP:0011751	HP:0011754	Pituicytoma	2	CL E G H
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	200
HP:0011751	HP:0011757	Posterior pituitary hypoplasia	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0011751	HP:0011757	Posterior pituitary hypoplasia	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional	12
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	2
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	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:0011751	HP:0011755	Ectopic posterior pituitary	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	21
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	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:0011751	HP:0011755	Ectopic posterior pituitary	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	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:0011751	HP:0011755	Ectopic posterior pituitary	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	43
HP:0011751	HP:0011756	Posterior pituitary agenesis	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	183
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	HP:0040283 - Occasional	41
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6	.	41
HP:0011751	HP:0011757	Posterior pituitary hypoplasia	2	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	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:0011751	HP:0011755	Ectopic posterior pituitary	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	34
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	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:0011751	HP:0011755	Ectopic posterior pituitary	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	54
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	7
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	24
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0011751	HP:0011756	Posterior pituitary agenesis	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	2
HP:0011751	HP:0011755	Ectopic posterior pituitary	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	10

Genes (53) :ADGRG1 AKT1 AVP BAP1 BRAF CDON CTNNB1 DISP1 DLL1 DYRK1A ERF FGF8 FOXA2 FOXH1 GAS1 GLI2 GPR161 HESX1 KIAA0753 LHX3 LHX4 MTHFR NF2 NODAL OTX2 PDGFB PI4KA PIK3CA POU1F1 PROKR2 PROP1 PTCH1 PUF60 ROBO1 SHH SIX3 SMARCB1 SMARCE1 SMO SOX3 SRPX2 STIL SUFU TBX3 TDGF1 TERT TGIF1 TP63 TRAF7 VANGL2 WDR11 WFS1 ZIC2

Diseases (24) :ORPHA:98889 ORPHA:2495 OMIM:125700 ORPHA:54595 ORPHA:95496 ORPHA:280195 ORPHA:268261 ORPHA:464311 OMIM:600775 ORPHA:95494 OMIM:615849 ORPHA:226307 OMIM:619476 ORPHA:563612 OMIM:610125 OMIM:613986 ORPHA:90695 ORPHA:508488 OMIM:142945 ORPHA:67045 OMIM:181450 OMIM:604292 ORPHA:411590 OMIM:609637

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen