Joubert syndrome 32

Preferred Label : Joubert syndrome 32;

Symbol : JBTS32;

CISMeF acronym : JBTS32;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the suppressor of fused, Drosophila, homolog of, gene (SUFU, 607035.0008);

Prefixed ID : #617757;

Details

Origin ID

617757;

UMLS CUI

C4540342;

Automatic exact mappings (from CISMeF team)
- SUFU wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Joubert syndrome 32 [DO Concept]
DO Cross reference
- Joubert syndrome 32 [DO Concept]
Genes related to phenotype
- Sufu negative regulator of hedgehog signaling [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Dysarthria [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability, mild [HPO term]
- Large for gestational age [HPO term]
- Macrocephaly [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Polymicrogyria [HPO term]
- Postaxial polydactyly [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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