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encyclopedia of Rare Disease Annotation for Precision Medicine

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	perrault syndrome

Disease ID	501
Disease	perrault syndrome
Definition	An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. [url:http://ghr.nlm.nih.gov/gene/LARS2, url:http://www.ncbi.nlm.nih.gov/pubmed/23541340] - NORD Reference: NORD
Synonym	gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance gonadal dysgenesis xx type deafness gonadal dysgenesis, xx type, with deafness ovarian dysgenesis with sensorineural deafness perrault syndrome 1 prlts1
Orphanet	ORPHANET:2855
OMIM	OMIM:233400
DOID	DOID:0050857
UMLS	C0685838
SNOMED-CT	SNOMEDCT_US_2016_09_01:93466004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0013338 \| growth hormone deficiency \| 1 C0018051 \| gonadal dysgenesis \| 1 C0004134 \| ataxia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 3295 \| HSD17B4 \| CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET 8192 \| CLPP \| ORPHANET;GHR 23395 \| LARS2 \| ORPHANET;GHR 23438 \| HARS2 \| ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:14) 64072 \| CDH23 \| 2.747 \| DISEASES 23562 \| CLDN14 \| 3.33 \| DISEASES 7401 \| CLRN1 \| 3.534 \| DISEASES 1285 \| COL4A3 \| 2.23 \| DISEASES 1297 \| COL9A1 \| 3.229 \| DISEASES 1908 \| EDN3 \| 2.011 \| DISEASES 668 \| FOXL2 \| 2.172 \| DISEASES 2706 \| GJB2 \| 1.528 \| DISEASES 3035 \| HARS \| 3.201 \| DISEASES 3295 \| HSD17B4 \| 6.125 \| DISEASES 4538 \| MT-ND4 \| 1.62 \| DISEASES 4693 \| NDP \| 2.97 \| DISEASES 65217 \| PCDH15 \| 2.85 \| DISEASES 29893 \| PSMC3IP \| 4.074 \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) HSD17B4 \| 5q23.1 TWNK \| 10q24.31 CLPP \| 19p13.3 HARS2 \| 5q31.3 LARS2 \| 3p21.31

Disease ID	501
Disease	perrault syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0001251 \| Ataxia \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0000133 \| Mixed gonadal dysgenesis \| 1

Disease ID	501
Disease	perrault syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs201009485	NA	3295	HSD17B4	umls:C0685838	CLINVAR	NA	0.480814326	NA	HSD17B4	5	119525971	G	A,C
rs387906825	NA	3295	HSD17B4	umls:C0685838	CLINVAR	NA	0.480814326	NA	HSD17B4	5	119489219	A	G
rs587777442	NA	3295	HSD17B4	umls:C0685838	CLINVAR	NA	0.480814326	NA	HSD17B4	5	119456357	C	T
rs587777443	NA	3295	HSD17B4	umls:C0685838	CLINVAR	NA	0.480814326	NA	HSD17B4	5	119525259	T	C
rs587777444	NA	3295	HSD17B4	umls:C0685838	CLINVAR	NA	0.480814326	NA	HSD17B4	5	119525250	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	501
Disease	perrault syndrome
Case	(Waiting for update.)

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