Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 head blood vessel morphology (HP:3000036)

Grandparent Node:
Abnormal retinal vascular morphology (HP:0008046)

Grandparent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal retinal artery morphology (HP:0000630)

..Starting node
..Cherry red spot of the macula (HP:0010729)

Term ID:

10729

Name:

Cherry red spot of the macula

Synonym:

Macular cherry red spot

Definition:

Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.

Comments:

Reference:

HP:0010729

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central fundal arteriolar microaneurysms (HP:0008014)

Retinal arterial macroaneurysms (HP:0025355)

Retinal arterial occlusion (HP:0025326)

Retinal arterial tortuosity (HP:0000631)

Retinal arteriolar constriction (HP:0008043)

Retinal arteriolar occlusion (HP:0007985)

Retinal arteriolar tortuosity (HP:0001136)

Retinal arteritis (HP:0008030)

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:0010729	HP:0010729	Cherry red spot of the macula	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0010729	HP:0010729	Cherry red spot of the macula	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0010729	HP:0010729	Cherry red spot of the macula	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0010729	HP:0010729	Cherry red spot of the macula	0	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis	HP:0040281 - Very frequent	51
HP:0010729	HP:0010729	Cherry red spot of the macula	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0010729	HP:0010729	Cherry red spot of the macula	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	160
HP:0010729	HP:0010729	Cherry red spot of the macula	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040282 - Frequent	120
HP:0010729	HP:0010729	Cherry red spot of the macula	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0010729	HP:0010729	Cherry red spot of the macula	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent	69
HP:0010729	HP:0010729	Cherry red spot of the macula	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0010729	HP:0010729	Cherry red spot of the macula	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0010729	HP:0010729	Cherry red spot of the macula	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent	43
HP:0010729	HP:0010729	Cherry red spot of the macula	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040282 - Frequent	43
HP:0010729	HP:0010729	Cherry red spot of the macula	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0010729	HP:0010729	Cherry red spot of the macula	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0010729	HP:0010729	Cherry red spot of the macula	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	81
HP:0010729	HP:0010729	Cherry red spot of the macula	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0010729	HP:0010729	Cherry red spot of the macula	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0010729	HP:0010729	Cherry red spot of the macula	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040283 - Occasional	33

Genes (11) :ASAH1 CTSA DARS1 GALC GLB1 GM2A HEXB NEU1 PSAP SMPD1 TMEM231

Diseases (18) :ORPHA:333 OMIM:228000 OMIM:256540 ORPHA:351 OMIM:615281 ORPHA:206436 ORPHA:79255 OMIM:230500 ORPHA:309246 OMIM:268800 ORPHA:309155 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 ORPHA:77293 OMIM:257200 ORPHA:2752

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen