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	enchondromatosis

Disease ID	136
Disease	enchondromatosis
Definition	Benign growths of cartilage in the metaphyses of several bones.
Synonym	chondromatosis, unilateral congenital enchondromatosis disease, ollier disease, ollier's enchondroma, multiple enchondromas, multiple enchondromatoses enchondromatosis (disorder) enchondromatosis [disease/finding] enchondromatosis multiple enchondromatosis, multiple enchondromatosis, multiple, ollier type enchondroses, multiple enchondroses, multiple, cartilaginous enchondrosis, multiple multiple enchondroma multiple enchondromas multiple enchondromata multiple enchondromatosis multiple enchondroses multiple enchondrosis ollier dis ollier disease ollier's disease olliers dis olliers disease osteochondromatosis
Orphanet	ORPHANET:296
OMIM	OMIM:166000
DOID	DOID:4625 DOID:4624
ICD10	ICD10CM:Q78.4
UMLS	C0014084
MeSH	D004687 D018216
SNOMED-CT	SNOMEDCT_US_2016_09_01:268274005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:14) C0024454 \| maffucci syndrome \| 3 C0018916 \| hemangiomas \| 3 C0029423 \| osteochondroma \| 2 C0242379 \| lung cancer \| 1 C0334576 \| gliomatosis cerebri \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0018206 \| granulosa cell tumour \| 1 C0017551 \| gilbert's syndrome \| 1 C0036202 \| sarcoidosis \| 1 C0349661 \| intracranial glioma \| 1 C0002871 \| anemia \| 1 C0007131 \| non-small cell lung cancer \| 1 C0008479 \| chondrosarcoma \| 1 C0149925 \| small cell lung cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 3417 \| IDH1 \| CTD_human;ORPHANET 5781 \| PTPN11 \| CTD_human 3418 \| IDH2 \| CTD_human;ORPHANET 5745 \| PTH1R \| CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:44) 65985 \| AACS \| 2.464 \| DISEASES 176 \| ACAN \| 2.573 \| DISEASES 249 \| ALPL \| 1.351 \| DISEASES 250 \| ALPP \| 1.855 \| DISEASES 56899 \| ANKS1B \| 3.124 \| DISEASES 546 \| ATRX \| 1.031 \| DISEASES 633 \| BGN \| 1.208 \| DISEASES 655 \| BMP7 \| 1.85 \| DISEASES 813 \| CALU \| 2.418 \| DISEASES 1280 \| COL2A1 \| 1.934 \| DISEASES 1734 \| DIO2 \| 1.735 \| DISEASES 2131 \| EXT1 \| 5.121 \| DISEASES 2132 \| EXT2 \| 4.004 \| DISEASES 2261 \| FGFR3 \| 2.028 \| DISEASES 2335 \| FN1 \| 1.029 \| DISEASES 668 \| FOXL2 \| 1.256 \| DISEASES 2582 \| GALE \| 2.657 \| DISEASES 2591 \| GALNT3 \| 3.134 \| DISEASES 25801 \| GCA \| 2.382 \| DISEASES 2778 \| GNAS \| 2.193 \| DISEASES 3091 \| HIF1A \| 1.126 \| DISEASES 3320 \| HSP90AA1 \| 2.831 \| DISEASES 3418 \| IDH2 \| 3.488 \| DISEASES 3481 \| IGF2 \| 2.143 \| DISEASES 4038 \| LRP4 \| 2.078 \| DISEASES 4148 \| MATN3 \| 2.827 \| DISEASES 4318 \| MMP9 \| 1.561 \| DISEASES 4514 \| MT-CO3 \| 1.434 \| DISEASES 92140 \| MTDH \| 1.465 \| DISEASES 5592 \| PRKG1 \| 1.537 \| DISEASES 5745 \| PTH1R \| 6.579 \| DISEASES 5744 \| PTHLH \| 3.387 \| DISEASES 5781 \| PTPN11 \| 3.233 \| DISEASES 80196 \| RNF34 \| 2.417 \| DISEASES 6194 \| RPS6 \| 1.344 \| DISEASES 860 \| RUNX2 \| 1.382 \| DISEASES 6696 \| SPP1 \| 2.539 \| DISEASES 55775 \| TDP1 \| 3.707 \| DISEASES 7053 \| TGM3 \| 1.68 \| DISEASES 7204 \| TRIO \| 2.668 \| DISEASES 51366 \| UBR5 \| 1.634 \| DISEASES 7421 \| VDR \| 1.208 \| DISEASES 7422 \| VEGFA \| 1.179 \| DISEASES 7784 \| ZP3 \| 2.217 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) IDH2 \| 15q26.1 IDH1 \| 2q34 PTH1R \| 3p21.31

Disease ID	136
Disease	enchondromatosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0000826 \| Precocious puberty HP:0002653 \| Bone pain HP:0001482 \| Subcutaneous nodule HP:0002797 \| Osteolysis HP:0006765 \| Chondrosarcoma HP:0200042 \| Skin ulcer HP:0100764 \| Lymphangioma HP:0001903 \| Anemia HP:0002763 \| Abnormal cartilage morphology HP:0001028 \| Hemangioma HP:0002664 \| Neoplasm HP:0004936 \| Venous thrombosis HP:0005701 \| Multiple enchondromatosis HP:0100242 \| Sarcoma HP:0100761 \| Visceral angiomatosis HP:0000926 \| Platyspondyly HP:0001028 \| Strawberry mark HP:0011314 \| Abnormal shape of long bone HP:0001928 \| Abnormality of coagulation HP:0001387 \| Joint stiffness HP:0000944 \| Abnormality of the metaphyses HP:0002983 \| Micromelia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0030431 \| Osteochondromas \| 2 HP:0006765 \| Chondrosarcoma \| 2 HP:0030038 \| Enchondroma \| 2 HP:0009733 \| Glioma \| 2 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0030358 \| Non-small cell lung carcinoma \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0001903 \| Anemia \| 1 HP:0005505 \| Refractory anemia \| 1 HP:0002664 \| Neoplasia \| 1 HP:0012531 \| Pain \| 1 HP:0030692 \| Brain tumor \| 1

Disease ID	136
Disease	enchondromatosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2697383 \| osteosarcoma C1384590 \| hemangiomatosis C0334403 \| juvenile granulosa cell tumor C0162375 \| giant cell reparative granuloma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C1704356 \| enchondromas \| 2 C0008479 \| chondrosarcoma \| 2 C0017638 \| glioma \| 1

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

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434601	15523647	5741	PTH	umls:C0014084	BeFree	Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis.	0.000271442	2004	PTH1R	3	46898097	C	T
rs121434601	15523647	5745	PTH1R	umls:C0014084	BeFree	Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.	0.24680591	2004	PTH1R	3	46898097	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:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000944	Abnormality of the metaphyses	MP:0013621	decreased internal diameter of femur	reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001387	Joint stiffness	MP:0003098	decreased tendon stiffness	reduced ability of tendon to maintain tensile strength and load
HP:0001928	Abnormality of coagulation	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h

Mapped by homologous gene(Total Items:19)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002797	Osteolysis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004936	Venous thrombosis	MP:0014166	ectopic cranial bone	the appearance of an extra bone structure at an atypical location in or near the cranium
HP:0002653	Bone pain	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001028	Hemangioma	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002664	Neoplasm	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000926	Platyspondyly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000826	Precocious puberty	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0006765	Chondrosarcoma	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0001387	Joint stiffness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0100761	Visceral angiomatosis	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002983	Micromelia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0100764	Lymphangioma	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0200042	Skin ulcer	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005701	Multiple enchondromatosis	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0001928	Abnormality of coagulation	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001482	Subcutaneous nodule	MP:0013542	abnormal submandibular gland branching morphogenesis
HP:0100242	Sarcoma	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000944	Abnormality of the metaphyses	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001903	Anemia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division

Disease ID	136
Disease	enchondromatosis
Case	(Waiting for update.)