Joubert syndrome 28

Preferred Label : Joubert syndrome 28;

Symbol : JBTS28;

CISMeF acronym : JBTS28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MKS1 gene (MKS, 609883.0010);

Prefixed ID : #617121;

Details

Origin ID

617121;

UMLS CUI

C4310705;

Currated CISMeF NLP mapping
- Joubert syndrome 28 [DO Concept]
DO Cross reference
- Joubert syndrome 28 [DO Concept]
Genes related to phenotype
- Mks transition zone complex subunit 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Fetal onset [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Lower limb hyperreflexia [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Optic disc pallor [HPO term]
- Pigmentary retinopathy [HPO term]
- Strabismus [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]
Validated automatic mappings to NTBT
- Joubert syndrome [ORDO Disease]

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