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encyclopedia of Rare Disease Annotation for Precision Medicine

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	extramammary paget disease

Disease ID	1104
Disease	extramammary paget disease
Definition	A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.
Synonym	[m]paget's disease, extramammary, excluding paget's disease of bone [m]paget's disease, extramammary, excluding paget's disease of bone (morphologic abnormality) cutaneous paget's disease diseases paget's skin extra mammary paget dis extra mammary paget disease extra mammary paget's disease extra mammary pagets dis extra-mammary paget disease extra-mammary paget's disease extra-mammary pagets disease extramammary paget dis extramammary paget's disease extramammary paget's disease (morphologic abnormality) extramammary pagets dis extramammary pagets disease extramammary, paget disease paget dis extra mammary paget dis extramammary paget disease extramammary paget disease of skin paget disease, extra mammary paget disease, extra-mammary paget disease, extramammary paget disease, extramammary (except paget disease of bone) paget disease, extramammary [disease/finding] paget's disease extramammary paget's disease of skin paget's disease of skin (morphologic abnormality) paget's disease of the skin paget's disease, extra mammary paget's disease, extra-mammary paget's disease, extramammary paget's disease, extramammary (except paget's disease of bone) paget's disease, extramammary (except paget's disease of bone) (morphologic abnormality) paget's skin disease pagets dis extra mammary pagets dis extramammary pagets disease, extra-mammary pagets disease, extramammary
Orphanet	ORPHANET:2800
OMIM	OMIM:167300
DOID	DOID:2099 DOID:3450
UMLS	C0030186
MeSH	D010145
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0686619 \| lymph node metastases \| 1 C0751498 \| sigmoid colon cancer \| 1 C0007102 \| colon cancer \| 1 C0033860 \| psoriasis \| 1 C0001418 \| adenocarcinoma \| 1 C0376358 \| prostate cancer \| 1 C0699885 \| bladder carcinoma \| 1 C0153676 \| pulmonary metastases \| 1 C0153446 \| anal cancer \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 501 \| ALDH7A1 \| 5.148 \| DISEASES 91074 \| ANKRD30A \| 2.652 \| DISEASES 367 \| AR \| 1.929 \| DISEASES 369 \| ARAF \| 1.803 \| DISEASES 1045 \| CDX2 \| 2.359 \| DISEASES 56259 \| CTNNBL1 \| 1.115 \| DISEASES 9166 \| EBAG9 \| 3.176 \| DISEASES 2066 \| ERBB4 \| 2.079 \| DISEASES 2526 \| FUT4 \| 1.883 \| DISEASES 3880 \| KRT19 \| 2.567 \| DISEASES 3855 \| KRT7 \| 5.073 \| DISEASES 440900 \| LINC01191 \| 2.494 \| DISEASES 9516 \| LITAF \| 1.974 \| DISEASES 9361 \| LONP1 \| 1.774 \| DISEASES 2315 \| MLANA \| 1.325 \| DISEASES 64386 \| MMP25 \| 2.063 \| DISEASES 4478 \| MSN \| 1.102 \| DISEASES 4582 \| MUC1 \| 3.048 \| DISEASES 4583 \| MUC2 \| 2.664 \| DISEASES 4586 \| MUC5AC \| 3.39 \| DISEASES 4588 \| MUC6 \| 1.819 \| DISEASES 100129528 \| MUC8 \| 2.504 \| DISEASES 9060 \| PAPSS2 \| 2.531 \| DISEASES 5879 \| RAC1 \| 1.901 \| DISEASES 5962 \| RDX \| 1.176 \| DISEASES 6194 \| RPS6 \| 1.121 \| DISEASES 6273 \| S100A2 \| 1.627 \| DISEASES 6277 \| S100A6 \| 1.099 \| DISEASES 6278 \| S100A7 \| 1.364 \| DISEASES 6441 \| SFTPD \| 1.021 \| DISEASES 23583 \| SMUG1 \| 1.257 \| DISEASES 6654 \| SOS1 \| 1.041 \| DISEASES 6817 \| SULT1A1 \| 1.333 \| DISEASES 6942 \| TCF20 \| 1.953 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1104
Disease	extramammary paget disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0000976 \| Eczematoid dermatitis HP:0002664 \| Neoplasia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0030731 \| Carcinoma \| 2 HP:0002862 \| Bladder carcinoma \| 1 HP:0003003 \| Colon cancer \| 1 HP:0003765 \| Psoriasis \| 1 HP:0012125 \| Prostate cancer \| 1

Disease ID	1104
Disease	extramammary paget disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1512411 \| hepatocellular carcinoma C0153690 \| bone metastases
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0001418 \| adenocarcinoma \| 1 C0376358 \| prostate cancer \| 1

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

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:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000976	Eczematoid dermatitis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002664	Neoplasm	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells

Disease ID	1104
Disease	extramammary paget disease
Case	(Waiting for update.)

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