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encyclopedia of Rare Disease Annotation for Precision Medicine

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	albright hereditary osteodystrophy

Disease ID	879
Disease	albright hereditary osteodystrophy
Synonym	aho - albright hereditary osteodystrophy albright hereditary osteodystrophy (disorder) albright hereditary osteodystrophy -retired- albright hereditary osteodystrophy, nos albright's hereditary osteodystrophy osteodystrophy, hereditary of albright
Orphanet	ORPHANET:665
DOID	DOID:0080053
UMLS	C2931404
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0028754 \| obesity \| 3 C0033806 \| pseudohypoparathyroidism \| 2 C0033835 \| pseudopseudohypoparathyroidism \| 1 C0086543 \| cataract \| 1 C0033806 \| pseudohypoparathyroidism type ia \| 1 C0023234 \| perthes disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2778 \| GNAS \| CTD_human;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:25) 84890 \| ADO \| 1.084 \| DISEASES 11132 \| CAPN10 \| 1.037 \| DISEASES 1146 \| CHRNG \| 2.42 \| DISEASES 1301 \| COL11A1 \| 1.246 \| DISEASES 2116 \| ETV2 \| 2.908 \| DISEASES 2261 \| FGFR3 \| 1.104 \| DISEASES 2778 \| GNAS \| 7.86 \| DISEASES 149775 \| GNAS-AS1 \| 3.78 \| DISEASES 2859 \| GPR35 \| 2.373 \| DISEASES 2887 \| GRB10 \| 2.583 \| DISEASES 23560 \| GTPBP4 \| 1.219 \| DISEASES 10984 \| KCNQ1OT1 \| 1.453 \| DISEASES 547 \| KIF1A \| 2.742 \| DISEASES 4487 \| MSX1 \| 1.225 \| DISEASES 5144 \| PDE4D \| 3.275 \| DISEASES 5573 \| PRKAR1A \| 3.661 \| DISEASES 5745 \| PTH1R \| 2.474 \| DISEASES 5744 \| PTHLH \| 2.989 \| DISEASES 388015 \| RTL1 \| 2.306 \| DISEASES 860 \| RUNX2 \| 1.984 \| DISEASES 8428 \| STK24 \| 2.353 \| DISEASES 10494 \| STK25 \| 3.234 \| DISEASES 8675 \| STX16 \| 6.297 \| DISEASES 117581 \| TWIST2 \| 2.504 \| DISEASES 157680 \| VPS13B \| 2.307 \| DISEASES
Locus	(Waiting for update.)

Disease ID	879
Disease	albright hereditary osteodystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0001513 \| Obesity \| 3 HP:0000852 \| Pseudohypoparathyroidism \| 2 HP:0025027 \| Cutaneous osteosis \| 1 HP:0000518 \| Cataract \| 1 HP:0100246 \| Osteoma \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0000969 \| Dropsy \| 1

Disease ID	879
Disease	albright hereditary osteodystrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C2697390 \| legg-calve-perthes disease C1963185 \| obesity C0221166 \| paraparesis C0029166 \| oral manifestations C0006664 \| calcinosis cutis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0028754 \| obesity \| 3 C0023234 \| legg-calve-perthes disease \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
GNAS	c.654_655insGTTCCAGGTGGACAAAGTCAA, p.Asn218LysfsX11	doi:10.1038/gim.2015.129	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

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:0)
(Waiting for update.)

Disease ID	879
Disease	albright hereditary osteodystrophy
Case	(Waiting for update.)

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