Jawad syndrome

Preferred Label : Jawad syndrome;

Symbol : JWDS;

CISMeF acronym : JWDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kelly syndrome; Microcephaly with mental retardation and digital anomalies;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retinoblastoma-binding protein 8 gene (RBBP8, 604124.0003);

Prefixed ID : #251255;

Details

Origin ID

251255;

UMLS CUI

C0796063;

Automatic exact mappings (from CISMeF team)
- Microcephaly-digital anomalies-intellectual disability syndrome [ORDO Disease]
- Plummer-Vinson syndrome [MeSH Descriptor]
- Plummer-Vinson syndrome [ICD-11 More detail]
- RBBP8 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Jawad syndrome [Disease (Nov.)]
- Jawad syndrome [ORDO Disease]
- Jawad syndrome (disorder) [SNOMED CT concept]
- microcephaly with mental retardation and digital anomalies [MeSH concept]
- microcephaly with mental retardation and digital anomalies [MeSH Supplementary Concept]
Genes related to phenotype
- Retinoblastoma-binding protein 8 [OMIM gene]
HPO term(s)
- 4-5 toe syndactyly [HPO term]
- Absent fourth finger distal interphalangeal crease [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Hallux valgus [HPO term]
- Intellectual disability [HPO term]
- Primary microcephaly [HPO term]
- Prominent nose [HPO term]
- Retrognathia [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Single interphalangeal crease of fifth finger [HPO term]
- Thoracic scoliosis [HPO term]
- Very short fifth finger middle phalanx [HPO term]
Matching ORDO disease(s)
- Microcephaly-digital anomalies-intellectual disability syndrome [ORDO Disease]
ORDO concept(s)
- Jawad syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jawad syndrome [ORDO Disease]
- Jawad syndrome [Disease (Nov.)]
- Jawad syndrome (disorder) [SNOMED CT concept]
- microcephaly with mental retardation and digital anomalies [MeSH Supplementary Concept]
- microcephaly with mental retardation and digital anomalies [MeSH concept]

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