Diamond-blackfan anemia 7

Preferred Label : Diamond-blackfan anemia 7;

Symbol : DBA7;

CISMeF acronym : DBA7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein L11 gene (RPL11, 604175.0001);

Laboratory abnormalities : Vitamin D deficiency; Elevated erythrocyte adenosine deaminase (eADA);

Prefixed ID : #612562;

Details

Origin ID

612562;

UMLS CUI

C2675512;

Automatic exact mappings (from CISMeF team)
- RPL11 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 7 [NCIt concept]
- Diamond-Blackfan anemia 7 [DO Concept]
- Diamond-Blackfan anemia 7 [MeSH concept]
- Diamond-Blackfan anemia 7 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-Blackfan anemia 7 [DO Concept]
Genes related to phenotype
- Ribosomal protein l11 [OMIM gene]
HPO term(s)
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Esophagitis [HPO term]
- Fetal distress [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Increased mean corpuscular volume [HPO term]
- Intrauterine growth retardation [HPO term]
- Low levels of vitamin D [HPO term]
- Macrocytic anemia [HPO term]
- Neutropenia [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyhydramnios [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Scoliosis [HPO term]
- Secundum atrial septal defect [HPO term]
- Short thumb [HPO term]
- Small hypothenar eminence [HPO term]
- Sprengel anomaly [HPO term]
- Tetralogy of Fallot [HPO term]
- Triphalangeal thumb [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diamond-Blackfan Anemia 7 [NCIt concept]
- Diamond-Blackfan anemia 7 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 7 [MeSH concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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