Joubert syndrome 30

Preferred Label : Joubert syndrome 30;

Symbol : JBTS30;

CISMeF acronym : JBTS30;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the armadillo repeat-containing protein 9 gene (ARMC9, 617612.0001);

Prefixed ID : #617622;

Détails

Origin ID

617622;

UMLS CUI

C4539937;

Currated CISMeF NLP mapping
- Joubert syndrome 30 [DO Concept]
DO Cross reference
- Joubert syndrome 30 [DO Concept]
Genes related to phenotype
- Armadillo repeat-containing protein 9 [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Congenital onset [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed speech and language development [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Molar tooth sign on MRI [HPO term]
- Postaxial hand polydactyly [HPO term]
- Ptosis [HPO term]
- Reduced visual acuity [HPO term]
- Retinal dystrophy [HPO term]
- Seizure [HPO term]
- Superior cerebellar dysplasia [HPO term]
- Tachypnea [HPO term]
- Ventriculomegaly [HPO term]
Not associated HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Polymicrogyria [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Joubert syndrome [ORDO Disease]

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

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