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 prenatal development or birth (HP:0001197)

Parent Node:
Abnormality of the amniotic fluid (HP:0001560)

..Starting node
..Fetal polyuria (HP:0001563)

Term ID:

1563

Name:

Fetal polyuria

Synonym:

Foetal polyuria

Definition:

Abnormally increased production of urine by the fetus resulting in polyhydramnios.

Comments:

Reference:

HP:0001563

Genes and Diseases:

Child Nodes:

Sister Nodes:

Meconium stained amniotic fluid (HP:0012420)

Oligohydramnios (HP:0001562)

Polyhydramnios (HP:0001561)

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:0001563	HP:0001563	Fetal polyuria	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0001563	HP:0001563	Fetal polyuria	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0001563	HP:0001563	Fetal polyuria	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0001563	HP:0001563	Fetal polyuria	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	2
HP:0001563	HP:0001563	Fetal polyuria	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	1
HP:0001563	HP:0001563	Fetal polyuria	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0001563	HP:0001563	Fetal polyuria	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	4
HP:0001563	HP:0001563	Fetal polyuria	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0001563	HP:0001563	Fetal polyuria	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient	.	6
HP:0001563	HP:0001563	Fetal polyuria	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	572
HP:0001563	HP:0001563	Fetal polyuria	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0001563	HP:0001563	Fetal polyuria	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent

Genes (12) :BSND CLCNKA CLCNKB FGF20 GFRA1 GREB1L ITGA8 KCNJ1 MAGED2 RET SLC12A1 WNT9B

Diseases (6) :OMIM:602522 OMIM:613090 ORPHA:1848 OMIM:241200 OMIM:300971 OMIM:601678

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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