Human Phenotype Ontology 
Grandparent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
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Abnormal iris pigmentation (HP:0008034)help
..Starting node
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Brushfield spots (HP:0001088)help
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: 
..expandAsymmetry of iris pigmentation (HP:0200064) help
..expandBlue irides (HP:0000635) help
..expandIris hypopigmentation (HP:0007730) help
..expandIris pigment dispersion (HP:0012634) help
..expandIris transillumination defect (HP:0012805) help
..expandStellate iris (HP:0012775) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001088HP:0001088Brushfield spots0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0001088HP:0001088Brushfield spots0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0001088HP:0001088Brushfield spots0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0001088HP:0001088Brushfield spots0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001088HP:0001088Brushfield spots0PEX1 CL E G H5189912ORPHA01404898850602136
HP:0001088HP:0001088Brushfield spots0PEX10 CL E G H5192912ORPHA0323478851602859
HP:0001088HP:0001088Brushfield spots0PEX11B CL E G H8799912ORPHA082478853603867
HP:0001088HP:0001088Brushfield spots0PEX12 CL E G H5193912ORPHA0371818854601758
HP:0001088HP:0001088Brushfield spots0PEX13 CL E G H5194912ORPHA0101968855601789
HP:0001088HP:0001088Brushfield spots0PEX14 CL E G H5195912ORPHA051768856601791
HP:0001088HP:0001088Brushfield spots0PEX16 CL E G H9409912ORPHA0151498857603360
HP:0001088HP:0001088Brushfield spots0PEX19 CL E G H5824912ORPHA041339713600279
HP:0001088HP:0001088Brushfield spots0PEX2 CL E G H5828912ORPHA0182089717170993
HP:0001088HP:0001088Brushfield spots0PEX26 CL E G H55670912ORPHA02727722965608666
HP:0001088HP:0001088Brushfield spots0PEX3 CL E G H8504912ORPHA0101168858603164
HP:0001088HP:0001088Brushfield spots0PEX5 CL E G H5830912ORPHA0142809719600414
HP:0001088HP:0001088Brushfield spots0PEX6 CL E G H5190912ORPHA01093758859601498


Genes (14) :GATA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6

Diseases (5) :190685 912 214100 614866 214110
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.