Rh-null, regulator type

Preferred Label : Rh-null, regulator type;

Symbol : RHNR;

CISMeF acronym : RHNR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rh-null hemolytic anemia, regulator type; Rh-null disease, regulator type;

Included titles and symbols : Rh deficiency syndrome; Rh-mod;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the rhesus blood group-associated glycoprotein gene (RHAG, 180297.0001);

Prefixed ID : #268150;

Details

Origin ID

268150;

UMLS CUI

C1849387;

Automatic exact mappings (from CISMeF team)
- Rh deficiency syndrome [DO Concept]
- Rh deficiency syndrome [ICD-11 More detail]
- Rh deficiency syndrome (disorder) [SNOMED CT concept]
- rh deficiency syndrome [MeSH concept]
- rh deficiency syndrome [SNOMED Notion]
- rh deficiency syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Rh-Null, regulator type [MeSH concept]
- Rh-Null, regulator type [MeSH Supplementary Concept]
DO Cross reference
- Rh deficiency syndrome [DO Concept]
Genes related to phenotype
- Rhesus blood group-associated glycoprotein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Increased red cell osmotic fragility [HPO term]
- Jaundice [HPO term]
- Stomatocytosis [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
ORDO concept(s)
- Rh deficiency syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rh-Null, regulator type [MeSH Supplementary Concept]
- Rh-Null, regulator type [MeSH concept]
Validated automatic mappings to NTBT
- Rh deficiency syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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