Human Phenotype Ontology

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:0011334	HP:0011334	Facial shape deformation	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0011334	HP:0011334	Facial shape deformation	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0011334	HP:0011334	Facial shape deformation	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0011334	HP:0011334	Facial shape deformation	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0011334	HP:0011334	Facial shape deformation	0	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2		2
HP:0011334	HP:0011334	Facial shape deformation	0	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0011334	HP:0011334	Facial shape deformation	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0011334	HP:0011334	Facial shape deformation	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0011334	HP:0011334	Facial shape deformation	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0011334	HP:0011334	Facial shape deformation	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0011334	HP:0011334	Facial shape deformation	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011334	HP:0011334	Facial shape deformation	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011334	HP:0011334	Facial shape deformation	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0011334	HP:0011334	Facial shape deformation	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0011334	HP:0011334	Facial shape deformation	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0011334	HP:0002009	Potter facies	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0011334	HP:0002009	Potter facies	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0011334	HP:0002009	Potter facies	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0011334	HP:0002009	Potter facies	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0011334	HP:0002009	Potter facies	1	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2	.	2
HP:0011334	HP:0002009	Potter facies	1	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0011334	HP:0002009	Potter facies	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0011334	HP:0002009	Potter facies	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0011334	HP:0002009	Potter facies	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011334	HP:0002009	Potter facies	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011334	HP:0002009	Potter facies	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0011334	HP:0002009	Potter facies	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0011334	HP:0002009	Potter facies	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35