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 endocrine system (HP:0000818)

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

Parent Node:
Diabetes insipidus (HP:0000873)

..Starting node
..Central diabetes insipidus (HP:0000863)

Term ID:

863

Name:

Central diabetes insipidus

Synonym:

Neurohypophyseal diabetes insipidus

Definition:

A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.

Comments:

Reference:

HP:0000863

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nephrogenic diabetes insipidus (HP:0009806)

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:0000863	HP:0000863	Central diabetes insipidus	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0000863	HP:0000863	Central diabetes insipidus	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0000863	HP:0000863	Central diabetes insipidus	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0000863	HP:0000863	Central diabetes insipidus	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0000863	HP:0000863	Central diabetes insipidus	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0000863	HP:0000863	Central diabetes insipidus	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0000863	HP:0000863	Central diabetes insipidus	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0000863	HP:0000863	Central diabetes insipidus	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0000863	HP:0000863	Central diabetes insipidus	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0000863	HP:0000863	Central diabetes insipidus	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0000863	HP:0000863	Central diabetes insipidus	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0000863	HP:0000863	Central diabetes insipidus	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0000863	HP:0000863	Central diabetes insipidus	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0000863	HP:0000863	Central diabetes insipidus	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0000863	HP:0000863	Central diabetes insipidus	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0000863	HP:0000863	Central diabetes insipidus	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0000863	HP:0000863	Central diabetes insipidus	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0000863	HP:0000863	Central diabetes insipidus	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0000863	HP:0000863	Central diabetes insipidus	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000863	HP:0000863	Central diabetes insipidus	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent	389
HP:0000863	HP:0000863	Central diabetes insipidus	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000863	HP:0000863	Central diabetes insipidus	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34

Genes (20) :AVP BRAF CDON CTNNB1 DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH SIX3 STIL TDGF1 TGIF1 TP63 WFS1 ZIC2

Diseases (7) :OMIM:125700 ORPHA:54595 ORPHA:280195 OMIM:142945 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.

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