Dyskeratosis congenita, autosomal recessive 6

Preferred Label : Dyskeratosis congenita, autosomal recessive 6;

Symbol : DKCB6;

CISMeF acronym : DKCB6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polyadenylate-specific ribonuclease gene (PARN, 604212.0001);

Prefixed ID : #616353;

Details

Origin ID

616353;

UMLS CUI

C4225356;

Automatic exact mappings (from CISMeF team)
- PARN wt Allele [NCIt concept]
- autosomal recessive dyskeratosis congenita 6 [DO Concept]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Recessive 6 [NCIt concept]
DO Cross reference
- autosomal recessive dyskeratosis congenita 6 [DO Concept]
Genes related to phenotype
- Polyadenylate-specific ribonuclease [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Alopecia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Cerebellar hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Nail dystrophy [HPO term]
- Sparse hair [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Dyskeratosis congenita [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis Congenita, Autosomal Recessive 6 [NCIt concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [ORDO Disease]

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