Lowry-wood syndrome

Preferred Label : Lowry-wood syndrome;

Symbol : LWS;

CISMeF acronym : LWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA, U4ATAC small nuclear gene (RNU4ATAC, 601428.0001);

Prefixed ID : #226960;

Détails

Origin ID

226960;

UMLS CUI

C0796021;

Automatic exact mappings (from CISMeF team)
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) [SNOMED CT concept]
- Lowry-Wood syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Lowry Wood syndrome [MeSH concept]
- Lowry-Wood syndrome [MedDRA Preferred Term]
- Lowry-Wood syndrome [ORDO Disease]
- lowry wood syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Rna, u4atac small nuclear [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Elbow flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Irregular epiphyses [HPO term]
- Limited elbow extension [HPO term]
- Microcephaly [HPO term]
- Multiple epiphyseal dysplasia [HPO term]
- Multiple joint dislocation [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Peripheral visual field loss [HPO term]
- Pigmentary retinopathy [HPO term]
- Prominent nose [HPO term]
- Restrictive ventilatory defect [HPO term]
- Shallow acetabular fossae [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Small epiphyses [HPO term]
- Small for gestational age [HPO term]
- Squared iliac bones [HPO term]
- Thick vermilion border [HPO term]
ORDO concept(s)
- Lowry-Wood syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) [SNOMED CT concept]
- Lowry Wood syndrome [MeSH concept]
- Lowry-Wood syndrome [MedDRA Preferred Term]
- Lowry-Wood syndrome [ORDO Disease]
- lowry wood syndrome [MeSH Supplementary Concept]

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