Joubert syndrome 3

Preferred Label : Joubert syndrome 3;

Symbol : JBTS3;

CISMeF acronym : JBTS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the abelson helper integration site 1 gene (AHI1, 608894.0001);

Prefixed ID : #608629;

Details

Origin ID

608629;

UMLS CUI

C1837713;

Automatic exact mappings (from CISMeF team)
- Abelson helper integration site 1 [ORDO Gene]
- Abelson helper integration site 1 [HGNC gene]
- Joubert syndrome with ocular defect [ORDO Disease]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert Syndrome 3 [NCIt concept]
- Joubert syndrome 3 [DO Concept]
- Joubert syndrome 3 [MeSH concept]
- joubert syndrome 3 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 3 [DO Concept]
Genes related to phenotype
- Abelson helper integration site 1 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Central apnea [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Deep posterior interpeduncular fossa [HPO term]
- Delayed ability to walk [HPO term]
- Elongated superior cerebellar peduncle [HPO term]
- Enlarged fossa interpeduncularis [HPO term]
- Epicanthal folds, mild [HPO term]
- Epicanthus [HPO term]
- Episodic tachypnea [HPO term]
- Generalized hypotonia [HPO term]
- Heterogeneous [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Molar tooth sign on MRI [HPO term]
- Motor delay [HPO term]
- Neonatal breathing dysregulation [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Open mouth [HPO term]
- Pigmentary retinopathy [HPO term]
- Ptosis [HPO term]
- Retinal dystrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Visual impairment [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Joubert syndrome with ocular defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert Syndrome 3 [NCIt concept]
- Joubert syndrome 3 [MeSH concept]
- Joubert syndrome 3 [DO Concept]
- joubert syndrome 3 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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