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	hydrops fetalis, idiopathic

Disease ID	1657
Disease	hydrops fetalis, idiopathic
Definition	Fluid accumulation in multiple fetal anatomic cavities that is of non-immune origin.(NICHD)
Synonym	familial non immune hydrops fetalis familial non-immune hydrops fetalis fetali, idiopathic hydrops fetalis nonimmune, hydrops fetalis nonimmunes, hydrops fetalis, idiopathic hydrops hydrops fetali, idiopathic hydrops fetali, nonimmune hydrops fetalis no isoim hydrops fetalis nonimmune hydrops fetalis nonimmunes hydrops fetalis not due to isoimmunisation hydrops fetalis not due to isoimmunization hydrops fetalis, non-immune hydrops fetalis, nonimmune hydrops foetalis not due to isoimmunisation hydrops foetalis not due to isoimmunization idiopathic hydrops fetali idiopathic hydrops fetalis idiopathic hydrops fetalis (disorder) idiopathic hydrops fetalis (disorder) [ambiguous] idiopathic hydrops foetalis nihf non immune hydrops fetalis non-immune fetal hydrops non-immune hydrops fetalis non-immune hydrops fetalis (disorder) non-immune hydrops foetalis nonimmune hydrops nonimmune hydrops fetali nonimmune hydrops fetalis nonimmune, hydrops fetalis nonimmunes, hydrops fetalis
Orphanet	ORPHANET:363999
OMIM	OMIM:236750
DOID	DOID:11604
UMLS	C0455988
SNOMED-CT	SNOMEDCT_US_2016_09_01:206538000;SNOMEDCT_US_2016_09_01:276509008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0039538 \| teratoma \| 1 C0677608 \| chorioangioma \| 1 C0018801 \| heart failure \| 1 C0004775 \| bartter syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 1134 \| CHRNA1 \| CLINVAR 29855 \| UBN1 \| CLINVAR 8323 \| FZD6 \| CLINVAR 2990 \| GUSB \| CLINVAR 3039 \| HBA1 \| ORPHANET 3040 \| HBA2 \| ORPHANET 127602 \| DNAH14 \| CLINVAR 4758 \| NEU1 \| CLINVAR 79623 \| GALNT14 \| CLINVAR 8736 \| MYOM1 \| CLINVAR 4703 \| NEB \| CLINVAR 5476 \| CTSA \| CLINVAR 55901 \| THSD1 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1657
Disease	hydrops fetalis, idiopathic
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0001635 \| Congestive heart failure HP:0001903 \| Anemia HP:0001789 \| Hydrops fetalis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002202 \| Pleural effusion \| 2 HP:0030741 \| Teratoma of the mediastinum \| 1 HP:0009792 \| Teratoma \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0030736 \| Sacrococcygeal teratoma \| 1

Disease ID	1657
Disease	hydrops fetalis, idiopathic
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:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918173	NA	2990	GUSB	umls:C0455988	CLINVAR	NA	0.12	NA	GUSB	7	65974626	G	A
rs121918185	NA	2990	GUSB	umls:C0455988	CLINVAR	NA	0.12	NA	GUSB	7	65974701	G	A
rs201118996	NA	79623	GALNT14	umls:C0455988	CLINVAR	NA	0.12	NA	GALNT14	2	30924226	G	A
rs545520806	NA	1134	CHRNA1	umls:C0455988	CLINVAR	NA	0.12	NA	CHRNA1	2	174753594	G	A
rs746607723	NA	4758	NEU1	umls:C0455988	CLINVAR	NA	0.12	NA	NEU1	6	31859797	G	A,C
rs751200138	NA	8736	MYOM1	umls:C0455988	CLINVAR	NA	0.12	NA	MYOM1	18	3067333	C	T
rs765004815	NA	29855	UBN1	umls:C0455988	CLINVAR	NA	0.12	NA	UBN1	16	4874766	T	A
rs769345284	NA	4703	NEB	umls:C0455988	CLINVAR	NA	0.12	NA	NEB	2	151537898	G	A
rs786205668	NA	127602	DNAH14	umls:C0455988	CLINVAR	NA	0.12	NA	DNAH14	1	225100772	T	A
rs786205669	NA	55901	THSD1	umls:C0455988	CLINVAR	NA	0.12	NA	THSD1	13	52397636	C	T
rs786205670	NA	5476	CTSA	umls:C0455988	CLINVAR	NA	0.12	NA	CTSA;NEURL2	20	45892875	C	-
rs786205671	NA	2990	GUSB	umls:C0455988	CLINVAR	NA	0.12	NA	GUSB	7	65979910	C	G
rs786205672	NA	8323	FZD6	umls:C0455988	CLINVAR	NA	0.12	NA	FZD6	8	103324975	A	G
rs786205673	NA	2990	GUSB	umls:C0455988	CLINVAR	NA	0.12	NA	GUSB	7	65980313	G	A
rs786205674	NA	2990	GUSB	umls:C0455988	CLINVAR	NA	0.12	NA	GUSB	7	65967798	T	C
rs864309513	NA	4758	NEU1	umls:C0455988	CLINVAR	NA	0.12	NA	NEU1	6	31861452	T	C
rs9536062	NA	55901	THSD1	umls:C0455988	CLINVAR	NA	0.12	NA	THSD1	13	52397583	G	A,C

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001635	Congestive heart failure	MP:0011925	abnormal heart echocardiography feature	any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001903	Anemia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001635	Congestive heart failure	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001789	Hydrops fetalis	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine

Disease ID	1657
Disease	hydrops fetalis, idiopathic
Case	(Waiting for update.)

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