Joubert syndrome 25

Preferred Label : Joubert syndrome 25;

Symbol : JBTS25;

CISMeF acronym : JBTS25;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 104-kD centrosomal protein gene (CEP104, 616690.0001);

Prefixed ID : #616781;

Details

Origin ID

616781;

UMLS CUI

C4084842;

Currated CISMeF NLP mapping
- Joubert syndrome 25 [DO Concept]
DO Cross reference
- Joubert syndrome 25 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 104-kd [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Molar tooth sign on MRI [HPO term]
- Oculomotor apraxia [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
See also inter- (CISMeF)
- centrosomal protein 104 [ORDO Gene]
- centrosomal protein 104 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Joubert syndrome [ORDO Disease]

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