Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Facies (D019066)
Parent Node: Urologic Diseases (D014570)
..Starting node ..Urofacial syndrome (C536480)
Child Nodes:
Sister Nodes:
..Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities (C567716)
..Kidney Diseases (D007674) 345
..Ureteral Diseases (D014515) 6
..Urethral Diseases (D014522) 12
..Urinary Bladder Diseases (D001745) 23
..Urinary Tract Infections (D014552) 3
..Urination Disorders (D014555) 26
..Urofacial syndrome (C536480)
..Urolithiasis (D052878) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11429

Name:

Urofacial syndrome

Definition:

Alternative IDs:

OMIM:236730

ParentIDs:

MESH:D014570|MESH:D019066

TreeNumbers:

C12.777/C536480 |C13.351.968/C536480 |C23.550.291.812/C536480

Synonyms:

Slim Mappings:

Pathology (process)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C536480
MeSH: C536480
OMIM: 236730;

Genes: HPSE2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005346	Abnormal facial expression
3	HP:0001999	Abnormal facial shape
4	HP:0002019	Constipation
5	HP:0000028	Cryptorchidism
6	HP:0000805	Enuresis
7	HP:0000126	Hydronephrosis
8	HP:0000072	Hydroureter
9	HP:0000010	Recurrent urinary tract infections
10	HP:0010481	Urethral valve

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_021828.4(HPSE2):c.1628A>T (p.Asn543Ile)	60495	HPSE2	Pathogenic	397515452	RCV000054516;	N	MedGen:C0403555,OMIM:236730,ORPHA:2704,SNOMED CT:236533008	10	100219482	100219482	NM_021828.4:c.1628A>T	NP_068600.4:p.Asn543Ile	NC_000010.10:g.100219482T>A	OMIM Allelic Variant:613469.0009	C0403555 236730 Ochoa syndrome
NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter)	60495	HPSE2	Pathogenic	267606866	RCV000000103;	N	MedGen:C0403555,OMIM:236730,ORPHA:2704,SNOMED CT:236533008	10	100242490	100242490	NM_021828.4:c.1516C>T	NP_068600.4:p.Arg506Ter	NC_000010.10:g.100242490G>A	OMIM Allelic Variant:613469.0001	C0403555 236730 Ochoa syndrome
NM_021828.4(HPSE2):c.1465_1466delAA (p.Asn489Profs)	60495	HPSE2	Pathogenic	397515338	RCV000000104;	N	MedGen:C0403555,OMIM:236730,ORPHA:2704,SNOMED CT:236533008	10	100249808	100249809	NM_021828.4:c.1465_1466delAA	NP_068600.4:p.Asn489Profs	NC_000010.10:g.100249808_100249809delTT	OMIM Allelic Variant:613469.0002	C0403555 236730 Ochoa syndrome
NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter)	60495	HPSE2	Pathogenic	267606864	RCV000000108;	N	MedGen:C0403555,OMIM:236730,ORPHA:2704,SNOMED CT:236533008	10	100249860	100249860	NM_021828.4:c.1414C>T	NP_068600.4:p.Arg472Ter	NC_000010.10:g.100249860G>A	OMIM Allelic Variant:613469.0006	C0403555 236730 Ochoa syndrome
NM_021828.4(HPSE2):c.457C>T (p.Arg153Ter)	60495	HPSE2	Pathogenic	267606865	RCV000000109;	N	MedGen:C0403555,OMIM:236730,ORPHA:2704,SNOMED CT:236533008	10	100904148	100904148	NM_021828.4:c.457C>T	NP_068600.4:p.Arg153Ter	NC_000010.10:g.100904148G>A	OMIM Allelic Variant:613469.0007	C0403555 236730 Ochoa syndrome