Joubert syndrome 4

Preferred Label : Joubert syndrome 4;

Symbol : JBTS4;

CISMeF acronym : JBTS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by deletion in the nephrocystin gene (NPHP1, 607100.0005);

Prefixed ID : #609583;

Détails

Origin ID

609583;

UMLS CUI

C1846790;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome with renal defect [ORDO Disease]
- NPHP1 wt Allele [NCIt concept]
- nephrocystin 1 [ORDO Gene]
- nephrocystin 1 [HGNC gene]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert Syndrome 4 [NCIt concept]
- Joubert syndrome 4 [DO Concept]
- Joubert syndrome 4 [MeSH concept]
- joubert syndrome 4 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 4 [DO Concept]
Genes related to phenotype
- Nephrocystin 1 [OMIM gene]
HPO term(s)
- Abnormal renal medulla morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cognitive impairment [HPO term]
- Delayed gross motor development [HPO term]
- Elongated superior cerebellar peduncle [HPO term]
- Generalized hypotonia [HPO term]
- Heterogeneous [HPO term]
- Hypometric saccades [HPO term]
- Hypotonia [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Renal insufficiency [HPO term]
- Thickened superior cerebellar peduncle [HPO term]
- Tubulointerstitial medullary cystic kidney disease [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Joubert syndrome with renal defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert Syndrome 4 [NCIt concept]
- Joubert syndrome 4 [MeSH concept]
- Joubert syndrome 4 [DO Concept]
- joubert syndrome 4 [MeSH Supplementary Concept]

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