Arima syndrome

Preferred Label : Arima syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Dekaban-arima syndrome; Joubert syndrome with bilateral chorioretinal coloboma; Cerebrooculohepatorenal syndrome; Coloboma, chorioretinal, with cerebellar vermis aplasia;

Description : Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see 213300), COACH syndrome (216360), and familial juvenile nephronophthisis (see 256100).;

Inheritance : Autosomal recessive;

Prefixed ID : %243910;

Détails

Origin ID

243910;

UMLS CUI

C1855675;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome with oculorenal defect [ICD-11 More detail]
CISMeF manual mappings
- Joubert syndrome with oculorenal defect (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Arima syndrome [MeSH concept]
- Joubert syndrome with oculorenal defect [ORDO Disease]
- arima syndrome [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Aplasia/Hypoplasia of the cerebellar vermis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Brainstem dysplasia [HPO term]
- Brainstem hypoplasia/dysplasia [HPO term]
- Chorioretinal coloboma [HPO term]
- Dilated fourth ventricle [HPO term]
- Dyspnea [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Interstitial fibrosis [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Occipital meningocele [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Psychomotor retardation [HPO term]
- Ptosis [HPO term]
- Renal corticomedullary cysts [HPO term]
- Renal tubular atrophy [HPO term]
- Retinal dystrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Tachypnea [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- Undetectable electroretinogram [HPO term]
- Wide mouth [HPO term]
- end-stage renal disease develops in childhood [HPO term]
- juvenile nephronophthisis [HPO term]
ORDO concept(s)
- Joubert syndrome with oculorenal defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arima syndrome [MeSH concept]
- Joubert syndrome with oculorenal defect [ORDO Disease]
- Joubert syndrome with oculorenal defect (disorder) [SNOMED CT concept]
- arima syndrome [MeSH Supplementary Concept]

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

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