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	escobar syndrome

Disease ID	1445
Disease	escobar syndrome
Definition	A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
Synonym	escobar syndrome (disorder) evmps familial pterygium syndrome multiple pterygium syndrome multiple pterygium syndrome (disorder) multiple pterygium syndrome, escobar variant multiple pterygium syndrome, nonlethal type pterygium colli syndrome pterygium multiple syndrome pterygium syndrome pterygium syndrome, multiple pterygium universale
Orphanet	ORPHANET:2990 ORPHANET:294060
OMIM	OMIM:265000
DOID	DOID:0080110
UMLS	C0265261
SNOMED-CT	SNOMEDCT_US_2016_09_01:80773006;SNOMEDCT_US_2016_09_01:205819008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0206157 \| nemaline myopathy \| 2 C0036439 \| scoliosis \| 2 C0026848 \| myopathy \| 2 C0032285 \| pneumonia \| 1 C0014850 \| esophageal atresia \| 1 C0022735 \| klinefelter syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 7169 \| TPM2 \| UNIPROT 1146 \| CHRNG \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:12) 617 \| BCS1L \| 3.184 \| DISEASES 1146 \| CHRNG \| 7.059 \| DISEASES 1272 \| CNTN1 \| 3.248 \| DISEASES 285489 \| DOK7 \| 5.518 \| DISEASES 2632 \| GBE1 \| 3.568 \| DISEASES 3339 \| HSPG2 \| 1.856 \| DISEASES 3767 \| KCNJ11 \| 1.237 \| DISEASES 4703 \| NEB \| 2.948 \| DISEASES 135250 \| RAET1E \| 3.003 \| DISEASES 6261 \| RYR1 \| 3.226 \| DISEASES 23345 \| SYNE1 \| 2.841 \| DISEASES 7169 \| TPM2 \| 3.967 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1445
Disease	escobar syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0002650 \| Scoliosis \| 2 HP:0003198 \| Myopathic changes \| 2 HP:0001040 \| Multiple pterygia \| 1 HP:0000278 \| Receding lower jaw \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0012531 \| Pain \| 1 HP:0002032 \| Esophageal atresia \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0001838 \| Rocker bottom foot \| 1

Disease ID	1445
Disease	escobar 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:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912670	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232542992	C	T
rs121912671	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232545570	C	T
rs121912672	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232540072	C	T
rs267606725	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232539760	C	T
rs267606726	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232540681	T	G
rs765746795	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232541451	C	G
rs767503038	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232543030	CT	-
rs797044677	NA	1146	CHRNG	umls:C0265261	CLINVAR	NA	0.481085767	NA	CHRNG	2	232540053	-	C

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	1445
Disease	escobar syndrome
Case	(Waiting for update.)

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