PedAM

Pediatric Disease Annotations & Medicines


	melorheostosis

Disease ID	398
Disease	melorheostosis
Definition	A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs.
Synonym	candle wax disease flowing hyperostosis hyperostosis, monomelic leri syndrome leri's disease melorheostoses melorheostosis (disorder) melorheostosis [disease/finding] melorheostosis leri melorheostosis of leri osteopathia hyperostotica congenita periostitis, monomelic rheostosis
Orphanet	ORPHANET:2485
DOID	DOID:4253
UMLS	C0025239
MeSH	D008557
SNOMED-CT	SNOMEDCT_US_2016_09_01:44697002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0029455 \| osteopoikilosis \| 2
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) LEMD3 \| 23592 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 6678 \| SPARC \| DISEASES 8074 \| FGF23 \| DISEASES 2006 \| ELN \| DISEASES 3557 \| IL1RN \| DISEASES 4087 \| SMAD2 \| DISEASES 90 \| ACVR1 \| DISEASES 5290 \| PIK3CA \| DISEASES 4041 \| LRP5 \| DISEASES 27306 \| HPGDS \| DISEASES 121340 \| SP7 \| DISEASES 23592 \| LEMD3 \| DISEASES 5745 \| PTH1R \| DISEASES 4088 \| SMAD3 \| DISEASES 2261 \| FGFR3 \| DISEASES 355 \| FAS \| DISEASES 860 \| RUNX2 \| DISEASES 2131 \| EXT1 \| DISEASES 10631 \| POSTN \| DISEASES 2591 \| GALNT3 \| DISEASES 3122 \| HLA-DRA \| DISEASES 1747 \| DLX3 \| DISEASES 83876 \| MRO \| DISEASES 3347 \| HTN3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	398
Disease	melorheostosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0010739 \| Osteopoikilosis \| 2 HP:0002999 \| Dislocated kneecap \| 1 HP:0012531 \| Pain \| 1

Disease ID	398
Disease	melorheostosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C0037928 \| myelopathy C0037579 \| soft tissue tumor C0037268 \| skin abnormalities C0035067 \| renal artery stenosis C0020492 \| hyperostosis C0007286 \| carpal tunnel syndrome C0002940 \| aneurysms
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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001920	Renal artery stenosis	MP:0003588	ureter stenosis;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100774	Hyperostosis	MP:0001726	abnormal allantois morphology;HP:0002196	Myelopathy

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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