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	lethal osteosclerotic bone dysplasia

Disease ID	1596
Disease	lethal osteosclerotic bone dysplasia
Synonym	osteosclerotic bone dysplasia, lethal raine syndrome rns
Orphanet	ORPHANET:1832
OMIM	OMIM:259775
UMLS	C1850106
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0029464 \| osteosclerosis \| 1 C0004134 \| ataxia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 56975 \| FAM20C \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) FAM20C \| 7p22.3

Disease ID	1596
Disease	lethal osteosclerotic bone dysplasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:11) HP:0000278 \| Retrognathia HP:0000470 \| Short neck HP:0000347 \| Micrognathia HP:0000457 \| Depressed nasal ridge HP:0000239 \| Large fontanelles HP:0000369 \| Low-set ears HP:0008501 \| Median cleft lip and palate HP:0000463 \| Anteverted nares HP:0000252 \| Microcephaly HP:0000358 \| Posteriorly rotated ears HP:0000270 \| Delayed cranial suture closure
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0011001 \| Increased bone mineral density \| 1 HP:0001251 \| Ataxia \| 1 HP:0001250 \| Seizures \| 1 HP:0002148 \| Hypophosphataemia \| 1

Disease ID	1596
Disease	lethal osteosclerotic bone dysplasia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0029464 \| osteosclerosis \| 1

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

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

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs267606795	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	255869	G	C
rs796051849	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	255939	T	G
rs796051850	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	259870	C	T
rs796051851	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	248312	C	G
rs796051852	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	255912	G	A
rs796051853	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	257003	A	G
rs796051854	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	246512	G	C
rs796051855	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	258645	G	A
rs796051874	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	195685	T	A
rs796051875	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	208909	G	A
rs797044462	NA	56975	FAM20C	umls:C1850106	CLINVAR	NA	0.482714419	NA	FAM20C	7	248340	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:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000457	Depressed nasal ridge	MP:0004872	absent nasal septum	absence of the structure that separates the two nasal cavities
HP:0008501	Median cleft lip and palate	MP:0009890	cleft secondary palate	congenital fissure of the tissues normally uniting to form the secondary palate
HP:0000470	Short neck	MP:0012720	elongated neck	increased length of the neck
HP:0000270	Delayed cranial suture closure	MP:0010743	delayed suture closure	late onset of the fusion of the bones of the skull

Mapped by homologous gene(Total Items:11)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000278	Retrognathia	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000270	Delayed cranial suture closure	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000470	Short neck	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000369	Low-set ears	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000358	Posteriorly rotated ears	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0008501	Median cleft lip and palate	MP:0013906	absent embryonic telencephalon	absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops
HP:0000463	Anteverted nares	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000252	Microcephaly	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000457	Depressed nasal ridge	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000239	Large fontanelles	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000347	Micrognathia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death

Disease ID	1596
Disease	lethal osteosclerotic bone dysplasia
Case	(Waiting for update.)

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