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encyclopedia of Rare Disease Annotation for Precision Medicine

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	jarcho-levin syndrome

Disease ID	735
Disease	jarcho-levin syndrome
Definition	A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs.
Synonym	costovertebral dysplasia jarcho-levin syndrome (disorder) scdo1 spondylocostal dysostosis spondylocostal dysostosis 1, autosomal recessive spondylocostal dysplasia, recessive form spondylothoracic dysostosis spondylothoracic dysplasia
Orphanet	ORPHANET:2311
OMIM	OMIM:277300
DOID	DOID:0050568
UMLS	C0265343
SNOMED-CT	SNOMEDCT_US_2016_09_01:61367005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0020255 \| hydrocephalus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 145873 \| MESP2 \| ORPHANET;GHR 84667 \| HES7 \| ORPHANET;GHR 134701 \| RIPPLY2 \| ORPHANET 10683 \| DLL3 \| CTD_human;GHR;ORPHANET;UNIPROT 3955 \| LFNG \| ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:18) 257 \| ALX3 \| 2.313 \| DISEASES 414 \| ARSD \| 3.076 \| DISEASES 28514 \| DLL1 \| 2.401 \| DISEASES 2253 \| FGF8 \| 1.943 \| DISEASES 2591 \| GALNT3 \| 1.859 \| DISEASES 2737 \| GLI3 \| 1.494 \| DISEASES 84667 \| HES7 \| 6.49 \| DISEASES 23493 \| HEY2 \| 2.396 \| DISEASES 26508 \| HEYL \| 2.542 \| DISEASES 145873 \| MESP2 \| 7.327 \| DISEASES 4855 \| NOTCH4 \| 1.148 \| DISEASES 5075 \| PAX1 \| 2.955 \| DISEASES 5083 \| PAX9 \| 2.688 \| DISEASES 23509 \| POFUT1 \| 3.153 \| DISEASES 3516 \| RBPJ \| 2.864 \| DISEASES 6152 \| RPL24 \| 2.135 \| DISEASES 6261 \| RYR1 \| 1.796 \| DISEASES 6628 \| SNRPB \| 2.23 \| DISEASES
Locus	(Waiting for update.)

Disease ID	735
Disease	jarcho-levin syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0045005 \| Neural tube defect \| 2 HP:0000119 \| Genitourinary abnormality \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0006882 \| Severe hydrocephalus \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1

Disease ID	735
Disease	jarcho-levin syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1963220 \| pulmonary hypertension
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
DLL3	c.395delG	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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	735
Disease	jarcho-levin syndrome
Case	(Waiting for update.)

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