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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Blue irides (HP:0000635)help
Term ID: 635
Name: Blue irides
Synonym: Blue eyes
Definition: A markedly blue coloration of the iris.
Comments:
Reference: HP:0000635
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAsymmetry of iris pigmentation (HP:0200064) help
..expandBrushfield spots (HP:0001088) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000635HP:0000635Blue irides0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0000635HP:0000635Blue irides0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0000635HP:0000635Blue irides0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000635HP:0000635Blue irides0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000635HP:0000635Blue irides0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000635HP:0000635Blue irides0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000635HP:0000635Blue irides0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000635HP:0000635Blue irides0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0000635HP:0000635Blue irides0KITLG CL E G H42546343OMIM:6199479
HP:0000635HP:0000635Blue irides0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000635HP:0000635Blue irides0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0000635HP:0000635Blue irides0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0000635HP:0000635Blue irides0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000635HP:0000635Blue irides0MITF CL E G H42867105OMIM:103500Tietz syndrome.91
HP:0000635HP:0000635Blue irides0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000635HP:0000635Blue irides0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000635HP:0000635Blue irides0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000635HP:0000635Blue irides0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0000635HP:0000635Blue irides0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0000635HP:0000635Blue irides0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000635HP:0000635Blue irides0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000635HP:0000635Blue irides0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000635HP:0000635Blue irides0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040283 - Occasional113
HP:0000635HP:0000635Blue irides0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0000635HP:0000635Blue irides0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040283 - Occasional134
HP:0000635HP:0000635Blue irides0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000635HP:0000635Blue irides0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0000635HP:0000635Blue irides0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0000635HP:0000635Blue irides0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000635HP:0000635Blue irides0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000635HP:0000635Blue irides0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0000635HP:0000635Blue irides0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0000635HP:0000635Blue irides0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000635HP:0000635Blue irides0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000635HP:0000635Blue irides0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0000635HP:0000635Blue irides0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040282 - Frequent62
HP:0000635HP:0000635Blue irides0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000635HP:0000635Blue irides0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional


Genes (41) :BAZ1B BCL7B BUD23 CLIP2 DNAJC30 EDN3 EDNRB EIF4H ELN FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HERC2 KITLG LIMK1 MAPK1 MC1R METTL27 MITF MLXIPL NCF1 OCA2 PAX3 PDE4D PRKAR1A PRR12 RFC2 RLIM SLC45A2 SNRPN SOS1 SOX10 STX1A TBL2 TMEM270 TP63 TYR TYRP1 UBE3A VPS37D

Diseases (25) :ORPHA:904 OMIM:613265 OMIM:277580 OMIM:194050 OMIM:615516 OMIM:619947 OMIM:619087 OMIM:203200 ORPHA:79432 OMIM:103500 OMIM:193500 OMIM:148820 OMIM:614613 ORPHA:280651 OMIM:101800 OMIM:619539 OMIM:300978 OMIM:606574 OMIM:105830 OMIM:610733 OMIM:611584 OMIM:613266 OMIM:604292 OMIM:203100 ORPHA:79433
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.