PedAM

Pediatric Disease Annotations & Medicines


	van buchem disease

Disease ID	1734
Disease	van buchem disease
Synonym	endosteal hyperostosis endosteal hyperostosis, autosomal recessive hyperostosis corticalis generalisata hyperphosphatasaemia tarda hyperphosphatasemia tarda hyperphosphatasemia tarda (disorder) hyperphosphatasia tarda leontiasis ossea generalisata sost sclerosing bone dysplasia sost-related sclerosing bone dysplasia van buchem's syndrome vbch
Orphanet	ORPHANET:3416
OMIM	OMIM:239100
DOID	DOID:0080036 DOID:0080034
UMLS	C0432272
SNOMED-CT	SNOMEDCT_US_2016_09_01:59763006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0029456 \| osteoporosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) LRP5 \| 4041 \| ORPHANET SOST \| 50964 \| ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 1277 \| COL1A1 \| DISEASES 4040 \| LRP6 \| DISEASES 59341 \| TRPV4 \| DISEASES 10863 \| ADAM28 \| DISEASES 1513 \| CTSK \| DISEASES 5741 \| PTH \| DISEASES 89780 \| WNT3A \| DISEASES 7471 \| WNT1 \| DISEASES 4041 \| LRP5 \| DISEASES 1278 \| COL1A2 \| DISEASES 50964 \| SOST \| DISEASES 7804 \| LRP8 \| DISEASES 6726 \| SRP9 \| DISEASES 649 \| BMP1 \| DISEASES 6578 \| SLCO2A1 \| DISEASES 4222 \| MEOX1 \| DISEASES 5745 \| PTH1R \| DISEASES 83999 \| KREMEN1 \| DISEASES 3840 \| KPNA4 \| DISEASES 4208 \| MEF2C \| DISEASES 1499 \| CTNNB1 \| DISEASES 4205 \| MEF2A \| DISEASES 632 \| BGLAP \| DISEASES 22943 \| DKK1 \| DISEASES 5251 \| PHEX \| DISEASES 4017 \| LOXL2 \| DISEASES 3949 \| LDLR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1734
Disease	van buchem disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000939 \| Osteoporosis \| 1

Disease ID	1734
Disease	van buchem disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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