PedAM

Pediatric Disease Annotations & Medicines


	familial retinoblastoma

Disease ID	1203
Disease	familial retinoblastoma
Definition	An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
Synonym	familial retinoblastomas hereditary retinoblastoma hereditary retinoblastoma (rb1) hereditary retinoblastomas retinoblastoma, familial retinoblastoma, hereditary retinoblastomas, familial retinoblastomas, hereditary
Orphanet	ORPHANET:357027
DOID	DOID:4648
UMLS	C0751483
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0016045 \| fibromas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) RB1 \| 5925 \| ORPHANET MYCN \| 4613 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:28) 7249 \| TSC2 \| DISEASES 4292 \| MLH1 \| DISEASES 4436 \| MSH2 \| DISEASES 29079 \| MED4 \| DISEASES 5934 \| RBL2 \| DISEASES 4722 \| NDUFS3 \| DISEASES 5925 \| RB1 \| DISEASES 7157 \| TP53 \| DISEASES 4613 \| MYCN \| DISEASES 762 \| CA4 \| DISEASES 5745 \| PTH1R \| DISEASES 6794 \| STK11 \| DISEASES 5148 \| PDE6G \| DISEASES 5727 \| PTCH1 \| DISEASES 4221 \| MEN1 \| DISEASES 4128 \| MAOA \| DISEASES 4771 \| NF2 \| DISEASES 4194 \| MDM4 \| DISEASES 5728 \| PTEN \| DISEASES 5933 \| RBL1 \| DISEASES 7507 \| XPA \| DISEASES 3014 \| H2AFX \| DISEASES 54829 \| ASPN \| DISEASES 353 \| APRT \| DISEASES 2098 \| ESD \| DISEASES 1029 \| CDKN2A \| DISEASES 1028 \| CDKN1C \| DISEASES 4193 \| MDM2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1203
Disease	familial retinoblastoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1203
Disease	familial retinoblastoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0206663 \| primitive neuroectodermal tumor (pnet) C0016045 \| fibromas
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0016045 \| fibromas \| 1

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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