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:
Abnormal facial shape (HP:0001999)

Parent Node:
Facial shape deformation (HP:0011334)

..Starting node
..Potter facies (HP:0002009)

Term ID:

2009

Name:

Potter facies

Synonym:

Definition:

A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.

Comments:

Reference:

HP:0002009

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002009	HP:0002009	Potter facies	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0002009	HP:0002009	Potter facies	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0002009	HP:0002009	Potter facies	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0002009	HP:0002009	Potter facies	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0002009	HP:0002009	Potter facies	0	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2	.	2
HP:0002009	HP:0002009	Potter facies	0	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0002009	HP:0002009	Potter facies	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0002009	HP:0002009	Potter facies	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0002009	HP:0002009	Potter facies	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0002009	HP:0002009	Potter facies	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0002009	HP:0002009	Potter facies	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0002009	HP:0002009	Potter facies	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0002009	HP:0002009	Potter facies	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35

Genes (13) :ACE AGT AGTR1 CEP55 FGF20 GFRA1 ITGA8 NPHP3 PAX2 PBX1 PKHD1 REN UBA1

Diseases (9) :OMIM:267430 OMIM:236500 OMIM:615721 OMIM:619887 OMIM:191830 OMIM:208540 ORPHA:97362 OMIM:263200 ORPHA:1145

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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