Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal fundus morphology (HP:0001098)help
Parent Node:
expand
Abnormality of fundus pigmentation (HP:0031605)help
..Starting node
..expand
Hypopigmentation of the fundus (HP:0007894)help
Term ID: 7894
Name: Hypopigmentation of the fundus
Synonym: Decreased fundus pigmentation; Fundus hypopigmentation
Definition: Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
Comments:
Reference: HP:0007894
Genes and Diseases:
 
       Child Nodes:
........expandDepigmented fundus (HP:0007680) help
........expandAbsent retinal pigment epithelium (HP:0007980) help
........expandAchromatic retinal patches (HP:0009727) help

 Sister Nodes: 
..expandHyperpigmentation of the fundus (HP:0011512) 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:0007894HP:0007894Hypopigmentation of the fundus0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 9.35
HP:0007894HP:0007894Hypopigmentation of the fundus0CACNA1F CL E G H7781393ORPHA:178333Ă…land Islands eye diseaseHP:0040281 - Very frequent58
HP:0007894HP:0007894Hypopigmentation of the fundus0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007894HP:0007894Hypopigmentation of the fundus0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0007894HP:0007894Hypopigmentation of the fundus0EDNRB CL E G H19103180OMIM:600501Abcd syndrome.55
HP:0007894HP:0007894Hypopigmentation of the fundus0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0007894HP:0007894Hypopigmentation of the fundus0GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa129
HP:0007894HP:0007894Hypopigmentation of the fundus0GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I64
HP:0007894HP:0007894Hypopigmentation of the fundus0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent24
HP:0007894HP:0007894Hypopigmentation of the fundus0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent124
HP:0007894HP:0007894Hypopigmentation of the fundus0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0007894HP:0007894Hypopigmentation of the fundus0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0007894HP:0007894Hypopigmentation of the fundus0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0007894HP:0007894Hypopigmentation of the fundus0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0007894HP:0007894Hypopigmentation of the fundus0MITF CL E G H42867105OMIM:103500Tietz syndrome.91
HP:0007894HP:0007894Hypopigmentation of the fundus0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0007894HP:0007894Hypopigmentation of the fundus0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0007894HP:0007894Hypopigmentation of the fundus0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0007894HP:0007894Hypopigmentation of the fundus0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent159
HP:0007894HP:0007894Hypopigmentation of the fundus0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0007894HP:0007894Hypopigmentation of the fundus0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0007894HP:0007894Hypopigmentation of the fundus0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0007894HP:0007894Hypopigmentation of the fundus0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0007894HP:0007894Hypopigmentation of the fundus0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0007894HP:0007894Hypopigmentation of the fundus0TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0007894HP:0007980Absent retinal pigment epithelium1GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaHP:0040281 - Very frequent129
HP:0007894HP:0007680Depigmented fundus1GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I.64
HP:0007894HP:0007980Absent retinal pigment epithelium1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional24
HP:0007894HP:0007980Absent retinal pigment epithelium1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional124
HP:0007894HP:0009727Achromatic retinal patches1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0007894HP:0007980Absent retinal pigment epithelium1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional159
HP:0007894HP:0009727Achromatic retinal patches1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0007894HP:0009727Achromatic retinal patches1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738


Genes (25) :BLOC1S6 CACNA1F CHM COL4A1 EDNRB EPG5 GGCX GPR143 GUCA1A GUCY2D IFNG KIF7 LAMB2 MC1R MITF MTTP OCA2 PAX3 PRPH2 SLC25A15 SLC45A2 SOX10 TSC1 TSC2 TYR

Diseases (21) :OMIM:614171 ORPHA:178333 OMIM:303100 OMIM:175780 OMIM:600501 OMIM:242840 ORPHA:436274 OMIM:300500 ORPHA:75377 OMIM:613254 OMIM:200990 OMIM:609049 OMIM:203200 OMIM:103500 ORPHA:14 OMIM:193500 OMIM:238970 OMIM:606574 OMIM:611584 OMIM:191100 OMIM:606952
 

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