Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   lacrimoauriculodentodigital syndrome
  

Disease ID 1613
Disease lacrimoauriculodentodigital syndrome
Synonym
lacrimo-auriculo-dento-digital syndrome
ladd
ladd syndrome
levy hollister syndrome
levy-hollister syndrome
levy-hollister syndrome (disorder)
Orphanet
OMIM
DOID
UMLS
C0265269
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0029089  |  ophthalmoplegia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
2261  |  FGFR3  |  CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW
2255  |  FGF10  |  CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW
2263  |  FGFR2  |  CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:10)
57492  |  ARID1B  |  3.101  |  DISEASES
2259  |  FGF14  |  3.838  |  DISEASES
2248  |  FGF3  |  3.805  |  DISEASES
2253  |  FGF8  |  2.616  |  DISEASES
2254  |  FGF9  |  3.076  |  DISEASES
2260  |  FGFR1  |  1.578  |  DISEASES
2263  |  FGFR2  |  4.438  |  DISEASES
2261  |  FGFR3  |  3.331  |  DISEASES
2591  |  GALNT3  |  2.443  |  DISEASES
29968  |  PSAT1  |  1.561  |  DISEASES
Locus
Symbol | Locus(Total Locus:3)
FGF10  |  5p12
FGFR3  |  4p16.3
FGFR2  |  10q26.13
Disease ID 1613
Disease lacrimoauriculodentodigital syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
HP:0030853  |  Heterotaxy  |  1
HP:0002013  |  Emesis  |  1
HP:0000602  |  Ophthalmoplegia  |  1
Disease ID 1613
Disease lacrimoauriculodentodigital syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
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:0)
(Waiting for update.)
Disease ID 1613
Disease lacrimoauriculodentodigital syndrome
Case(Waiting for update.)