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 iris morphology (HP:0000525)

Parent Node:
Abnormal iris pigmentation (HP:0008034)

..Starting node
..Brushfield spots (HP:0001088)

Term ID:

1088

Name:

Brushfield spots

Synonym:

Iris brushfield spots; Speckled iris

Definition:

The presence of whitish spots in a ring-like arrangement at the periphery of the iris.

Comments:

Reference:

HP:0001088

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetry of iris pigmentation (HP:0200064)

Blue irides (HP:0000635)

Iris hypopigmentation (HP:0007730)

Iris pigment dispersion (HP:0012634)

Iris transillumination defect (HP:0012805)

Stellate iris (HP:0012775)

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:0001088	HP:0001088	Brushfield spots	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001088	HP:0001088	Brushfield spots	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001088	HP:0001088	Brushfield spots	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	169
HP:0001088	HP:0001088	Brushfield spots	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	75
HP:0001088	HP:0001088	Brushfield spots	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	4
HP:0001088	HP:0001088	Brushfield spots	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	65
HP:0001088	HP:0001088	Brushfield spots	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	66
HP:0001088	HP:0001088	Brushfield spots	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	46
HP:0001088	HP:0001088	Brushfield spots	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	59
HP:0001088	HP:0001088	Brushfield spots	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	62
HP:0001088	HP:0001088	Brushfield spots	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0001088	HP:0001088	Brushfield spots	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	82
HP:0001088	HP:0001088	Brushfield spots	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	106
HP:0001088	HP:0001088	Brushfield spots	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	47
HP:0001088	HP:0001088	Brushfield spots	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0001088	HP:0001088	Brushfield spots	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	99
HP:0001088	HP:0001088	Brushfield spots	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	98
HP:0001088	HP:0001088	Brushfield spots	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1

Genes (15) :GATA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PRR12

Diseases (6) :OMIM:190685 OMIM:214100 ORPHA:912 OMIM:614866 OMIM:214110 OMIM:619539

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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