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:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Retinal dystrophy (HP:0000556)

..Starting node
..Cone/cone-rod dystrophy (HP:0000548)

Term ID:

548

Name:

Cone/cone-rod dystrophy

Synonym:

Cone rod dystrophy; Cone-rod retinal dystrophy

Definition:

Comments:

Reference:

HP:0000548

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chorioretinal dystrophy (HP:0001135)

Congenital stationary night blindness (HP:0007642)

Macular dystrophy (HP:0007754)

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:0000548	HP:0000548	Cone/cone-rod dystrophy	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	ADAM9 CL E G H	8754	216	OMIM:612775	Cone-Rod dystrophy 9	.	41
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040281 - Very frequent	8
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	.	58
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4		129
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.	61
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.	24
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.	73
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040284 - Very rare	32
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.	80
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.	14
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.	135
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.	3
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.	6
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11		52
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13		109
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.	48
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0000548	HP:0000548	Cone/cone-rod dystrophy	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19	.	9
HP:0000548	HP:0008020	Cone dystrophy	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.	14

Genes (31) :ABCA4 ADAM9 AIPL1 ALMS1 ALPK1 ATXN7 CACNA1F CACNA2D4 CFAP410 CFAP418 CNNM4 CRX GUCA1A GUCY2D HMX1 KCNV2 LZTFL1 NGLY1 PCYT1A PDE6C PDE6H PITPNM3 POC1B PROM1 RAB28 RAX2 RIMS1 RPGRIP1 SEMA4A SLC19A2 TTLL5

Diseases (34) :OMIM:604116 OMIM:612775 OMIM:604393 ORPHA:64 OMIM:203800 OMIM:614979 ORPHA:94147 OMIM:300476 OMIM:610478 OMIM:602271 OMIM:617406 OMIM:614500 OMIM:217080 OMIM:120970 OMIM:602093 OMIM:601777 OMIM:612109 OMIM:610356 OMIM:615994 ORPHA:404454 OMIM:608940 ORPHA:85167 OMIM:613093 OMIM:610024 OMIM:600977 OMIM:615973 OMIM:612657 OMIM:615374 OMIM:610381 OMIM:603649 OMIM:608194 OMIM:610282 OMIM:249270 OMIM:615860

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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