Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Abnormal macular morphology (HP:0001103)

Parent Node:
Retinal dystrophy (HP:0000556)

..Starting node
..Macular dystrophy (HP:0007754)

Term ID:

7754

Name:

Macular dystrophy

Synonym:

Definition:

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.

Comments:

Reference:

HP:0007754

Genes and Diseases:

Child Nodes:

........

Occult macular dystrophy (HP:0030636)

Sister Nodes:

Chorioretinal dystrophy (HP:0001135)

Cone/cone-rod dystrophy (HP:0000548)

Congenital stationary night blindness (HP:0007642)

Pattern dystrophy of the retina (HP:0007963)

Retinal dystrophy with early macular involvement (HP:0030635)

Rod-cone dystrophy (HP:0000510)

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:0007754	HP:0007754	Macular dystrophy	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0007754	HP:0007754	Macular dystrophy	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.	182
HP:0007754	HP:0007754	Macular dystrophy	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0007754	HP:0007754	Macular dystrophy	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.	87
HP:0007754	HP:0007754	Macular dystrophy	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040281 - Very frequent	87
HP:0007754	HP:0007754	Macular dystrophy	0	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy		87
HP:0007754	HP:0007754	Macular dystrophy	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	86
HP:0007754	HP:0007754	Macular dystrophy	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	57
HP:0007754	HP:0007754	Macular dystrophy	0	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.	129
HP:0007754	HP:0007754	Macular dystrophy	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	54
HP:0007754	HP:0007754	Macular dystrophy	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0007754	HP:0007754	Macular dystrophy	0	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.	4
HP:0007754	HP:0007754	Macular dystrophy	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.	4
HP:0007754	HP:0007754	Macular dystrophy	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.	120
HP:0007754	HP:0007754	Macular dystrophy	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0007754	HP:0007754	Macular dystrophy	0	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.	120
HP:0007754	HP:0007754	Macular dystrophy	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0007754	HP:0007754	Macular dystrophy	0	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	HP:0040283 - Occasional	169
HP:0007754	HP:0007754	Macular dystrophy	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0007754	HP:0007754	Macular dystrophy	0	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	.	159
HP:0007754	HP:0007754	Macular dystrophy	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	159
HP:0007754	HP:0007754	Macular dystrophy	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD		284
HP:0007754	HP:0007754	Macular dystrophy	0	SYCE1 CL E G H	93426	28852	OMIM:616947	PREMATURE OVARIAN FAILURE 12; POF12		4
HP:0007754	HP:0007754	Macular dystrophy	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy	.	95
HP:0007754	HP:0007754	Macular dystrophy	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040281 - Very frequent	95
HP:0007754	HP:0007754	Macular dystrophy	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0007754	HP:0007754	Macular dystrophy	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0007754	HP:0007754	Macular dystrophy	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0007754	HP:0030636	Occult macular dystrophy	1	CL E G H

Genes (23) :BBS5 BEST1 CCNQ CDH3 CFH CFI CHST6 EFEMP1 ELOVL4 IMPG1 IMPG2 LOC111365204 MFSD8 MYO5A PEX1 PROM1 PRPH2 RP1L1 SYCE1 TIMP3 TRNE TRNK TRNL1

Diseases (24) :OMIM:615983 OMIM:153700 ORPHA:140952 OMIM:225280 ORPHA:1897 OMIM:601553 ORPHA:75376 OMIM:217800 OMIM:600110 OMIM:153870 OMIM:616151 OMIM:616152 OMIM:136550 OMIM:616170 ORPHA:33445 OMIM:234580 OMIM:608051 OMIM:169150 OMIM:608161 OMIM:613587 OMIM:616947 OMIM:136900 ORPHA:59181 ORPHA:225

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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