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:
Somatic sensory dysfunction (HP:0003474)

Parent Node:
Impaired proprioception (HP:0010831)

..Starting node
..Positive Romberg sign (HP:0002403)

Term ID:

2403

Name:

Positive Romberg sign

Synonym:

Definition:

The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.

Comments:

Reference:

HP:0002403

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired distal proprioception (HP:0006858)

Sensory ataxia (HP:0010871)

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:0002403	HP:0002403	Positive Romberg sign	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	111
HP:0002403	HP:0002403	Positive Romberg sign	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0002403	HP:0002403	Positive Romberg sign	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002403	HP:0002403	Positive Romberg sign	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002403	HP:0002403	Positive Romberg sign	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0002403	HP:0002403	Positive Romberg sign	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0002403	HP:0002403	Positive Romberg sign	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0002403	HP:0002403	Positive Romberg sign	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0002403	HP:0002403	Positive Romberg sign	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0002403	HP:0002403	Positive Romberg sign	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002403	HP:0002403	Positive Romberg sign	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0002403	HP:0002403	Positive Romberg sign	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0002403	HP:0002403	Positive Romberg sign	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0002403	HP:0002403	Positive Romberg sign	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0002403	HP:0002403	Positive Romberg sign	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0002403	HP:0002403	Positive Romberg sign	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0002403	HP:0002403	Positive Romberg sign	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0002403	HP:0002403	Positive Romberg sign	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.	3
HP:0002403	HP:0002403	Positive Romberg sign	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent	493
HP:0002403	HP:0002403	Positive Romberg sign	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002403	HP:0002403	Positive Romberg sign	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0002403	HP:0002403	Positive Romberg sign	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.	113
HP:0002403	HP:0002403	Positive Romberg sign	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0002403	HP:0002403	Positive Romberg sign	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0002403	HP:0002403	Positive Romberg sign	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4

Genes (19) :FLVCR1 IRF2BPL KNSTRN LITAF MFN2 MTTP NEFL OPA3 PIK3CD PLD3 POLG POLR3A RFC1 RNF170 SH3TC2 TBP TTPA TWNK XRCC1

Diseases (22) :OMIM:609033 ORPHA:88628 OMIM:618088 ORPHA:221139 OMIM:601098 OMIM:601152 ORPHA:14 ORPHA:101085 ORPHA:67036 OMIM:617770 OMIM:258450 ORPHA:94125 OMIM:607459 ORPHA:70595 ORPHA:447896 OMIM:614575 OMIM:608984 ORPHA:99949 OMIM:607136 OMIM:277460 OMIM:616138 OMIM:617633

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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