Joubert syndrome 8

Preferred Label : Joubert syndrome 8;

Symbol : JBTS8;

CISMeF acronym : JBTS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADP-ribosylation factor-like 13B gene (ARL13B, 608922.0001);

Prefixed ID : #612291;

Détails

Origin ID

612291;

UMLS CUI

C2676771;

Automatic exact mappings (from CISMeF team)
- ADP ribosylation factor like GTPase 13B [ORDO Gene]
- ADP ribosylation factor like GTPase 13B [HGNC gene]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert syndrome 8 [DO Concept]
- joubert syndrome 8 [MeSH concept]
- joubert syndrome 8 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 8 [DO Concept]
Genes related to phenotype
- Adp-ribosylation factor-like gtpase 13b [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypertonia [HPO term]
- Hyperventilation [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Molar tooth sign on MRI [HPO term]
- Neonatal onset [HPO term]
- Obesity [HPO term]
- Occipital encephalocele [HPO term]
- Oculomotor apraxia [HPO term]
- Optic disc pallor [HPO term]
- Pigmentary retinopathy [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Ptosis [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 8 [DO Concept]
- joubert syndrome 8 [MeSH Supplementary Concept]
- joubert syndrome 8 [MeSH concept]

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

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