Human Phenotype Ontology

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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 posterior pituitary (HP:0011751)

Parent Node:
Posterior pituitary dysgenesis (HP:0011753)

..Starting node
..Ectopic posterior pituitary (HP:0011755)

Term ID:

11755

Name:

Ectopic posterior pituitary

Synonym:

Ectopic neurohypophysis

Definition:

An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.

Comments:

Reference:

HP:0011755

Genes and Diseases:

Child Nodes:

Sister Nodes:

Posterior pituitary agenesis (HP:0011756)

Posterior pituitary hypoplasia (HP:0011757)

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:0011755	HP:0011755	Ectopic posterior pituitary	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	200
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional	12
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	2
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	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:0011755	HP:0011755	Ectopic posterior pituitary	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	21
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	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:0011755	HP:0011755	Ectopic posterior pituitary	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	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:0011755	HP:0011755	Ectopic posterior pituitary	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	43
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	HP:0040283 - Occasional	41
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6	.	41
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	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:0011755	HP:0011755	Ectopic posterior pituitary	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	34
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	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:0011755	HP:0011755	Ectopic posterior pituitary	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	54
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	7
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	24
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0011755	HP:0011755	Ectopic posterior pituitary	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	10

Genes (21) :ADGRG1 CDON ERF FOXA2 GLI2 GPR161 HESX1 KIAA0753 LHX3 LHX4 OTX2 PI4KA POU1F1 PROKR2 PROP1 PUF60 ROBO1 SOX3 SRPX2 TBX3 WDR11

Diseases (13) :ORPHA:98889 ORPHA:95496 OMIM:600775 ORPHA:95494 OMIM:615849 ORPHA:226307 OMIM:619476 OMIM:610125 OMIM:613986 ORPHA:90695 ORPHA:508488 ORPHA:67045 OMIM:181450

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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