Joubert syndrome 9

Preferred Label : Joubert syndrome 9;

Symbol : JBTS9;

CISMeF acronym : JBTS9;

Type : Phenotype, molecular basis known;

Included titles and symbols : Joubert syndrome 9/15, digenic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coiled-coil and C2 domains-containing protein 2A (CC2D2A, 612013.0001);

Prefixed ID : #612285;

Détails

Origin ID

612285;

UMLS CUI

C2676788;

Automatic exact mappings (from CISMeF team)
- coiled-coil and C2 domain containing 2A [ORDO Gene]
- coiled-coil and C2 domain containing 2A [HGNC gene]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert Syndrome 9 [NCIt concept]
- Joubert syndrome 9 [DO Concept]
- joubert syndrome 9 [MeSH concept]
- joubert syndrome 9 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 9 [DO Concept]
Genes related to phenotype
- Coiled-coil and c2 domains-containing protein 2a [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebral visual impairment [HPO term]
- Encephalocele [HPO term]
- Episodic tachypnea [HPO term]
- Global developmental delay [HPO term]
- Hepatic fibrosis [HPO term]
- Intellectual disability [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Retinal dystrophy [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Joubert syndrome with oculorenal defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert Syndrome 9 [NCIt concept]
- Joubert syndrome 9 [DO Concept]
- joubert syndrome 9 [MeSH Supplementary Concept]
- joubert syndrome 9 [MeSH concept]

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