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 pituitary gland (HP:0012503)

Parent Node:
Abnormality of the posterior pituitary (HP:0011751)

..Starting node
..Posterior pituitary dysgenesis (HP:0011753)

Term ID:

11753

Name:

Posterior pituitary dysgenesis

Synonym:

Neurohypophysis dysplasia; Posterior pituitary dysplasia

Definition:

Abnormal development of the neurohypophysis during embryonic growth and development.

Comments:

Reference:

HP:0011753

Genes and Diseases:

Child Nodes:

........

Ectopic posterior pituitary (HP:0011755)

........

Posterior pituitary agenesis (HP:0011756)

........

Posterior pituitary hypoplasia (HP:0011757)

Sister Nodes:

Central diabetes insipidus (HP:0000863)

Neoplasm of the posterior pituitary (HP:0011752)

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:0011753	HP:0011753	Posterior pituitary dysgenesis	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency		24
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0011753	HP:0011753	Posterior pituitary dysgenesis	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	200
HP:0011753	HP:0011757	Posterior pituitary hypoplasia	1	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:0011753	HP:0011757	Posterior pituitary hypoplasia	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional	12
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	2
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0011753	HP:0011755	Ectopic posterior pituitary	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:0011753	HP:0011755	Ectopic posterior pituitary	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	21
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0011753	HP:0011755	Ectopic posterior pituitary	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:0011753	HP:0011755	Ectopic posterior pituitary	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0011753	HP:0011755	Ectopic posterior pituitary	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:0011753	HP:0011755	Ectopic posterior pituitary	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	43
HP:0011753	HP:0011756	Posterior pituitary agenesis	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	183
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	HP:0040283 - Occasional	41
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6	.	41
HP:0011753	HP:0011757	Posterior pituitary hypoplasia	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0011753	HP:0011755	Ectopic posterior pituitary	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:0011753	HP:0011755	Ectopic posterior pituitary	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	34
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0011753	HP:0011755	Ectopic posterior pituitary	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:0011753	HP:0011755	Ectopic posterior pituitary	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	54
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	7
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	24
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0011753	HP:0011756	Posterior pituitary agenesis	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	2
HP:0011753	HP:0011755	Ectopic posterior pituitary	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040280 - Obligate	10

Genes (24) :ADGRG1 CDON DYRK1A ERF FOXA2 GLI2 GPR161 HESX1 KIAA0753 LHX3 LHX4 MTHFR OTX2 PI4KA POU1F1 PROKR2 PROP1 PUF60 ROBO1 SOX3 SRPX2 TBX3 VANGL2 WDR11

Diseases (16) :ORPHA:98889 ORPHA:95496 ORPHA:268261 ORPHA:464311 OMIM:600775 ORPHA:95494 OMIM:615849 ORPHA:226307 OMIM:619476 ORPHA:563612 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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