Diamond-blackfan anemia 6

Preferred Label : Diamond-blackfan anemia 6;

Symbol : DBA6;

CISMeF acronym : DBA6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aase-smith syndrome II;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ribosomal protein L5 (RPL5, 603634.0001);

Laboratory abnormalities : Iron overload (in some patients); Elevated erythrocyte adenosine deaminase (eADA);

Prefixed ID : #612561;

Détails

Origin ID

612561;

UMLS CUI

C2931850;

Automatic exact mappings (from CISMeF team)
- Aase syndrome [MedDRA Preferred Term]
- Aase syndrome (disorder) [SNOMED CT concept]
- RPL5 wt Allele [NCIt concept]
- aase syndrome [MeSH concept]
- aase syndrome [SNOMED Notion]
- brachydactyly type A6 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Aase Smith syndrome 2 [MeSH concept]
- Aase Smith syndrome 2 [MeSH Supplementary Concept]
- Diamond-Blackfan Anemia 6 [NCIt concept]
- Diamond-Blackfan anemia 6 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 6 [DO Concept]
Genes related to phenotype
- Ribosomal protein l5 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Increased mean corpuscular volume [HPO term]
- Macrocytic anemia [HPO term]
- Micrognathia [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Patent ductus arteriosus [HPO term]
- Persistence of hemoglobin F [HPO term]
- Retrognathia [HPO term]
- Short thumb [HPO term]
- Tetralogy of Fallot [HPO term]
- Tracheomalacia [HPO term]
- Triphalangeal thumb [HPO term]
- Ventricular hypertrophy [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aase Smith syndrome 2 [MeSH concept]
- Aase Smith syndrome 2 [MeSH Supplementary Concept]
- Diamond-Blackfan Anemia 6 [NCIt concept]
Validated automatic mappings to NTBT
- Diamond Blackfan anemia [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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