Deafness, autosomal recessive 108

Preferred Label : Deafness, autosomal recessive 108;

Symbol : DFNB108;

CISMeF acronym : DFNB108;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the receptor tyrosine kinase-like orphan receptor 1 gene (ROR1, 602336.0001);

Prefixed ID : #617654;

Détails

Origin ID

617654;

UMLS CUI

C4539997;

Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 108 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 108 [DO Concept]
Genes related to phenotype
- Receptor tyrosine kinase-like orphan receptor 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Infantile onset [HPO term]
- Iris coloboma [HPO term]
Not associated HPO term(s)
- Motor delay [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients