Roberts-sc phocomelia syndrome

Preferred Label : Roberts-sc phocomelia syndrome;

Symbol : RBS;

CISMeF acronym : RBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Long bone deficiencies associated with cleft lip-palate; Roberts syndrome; Sc pseudothalidomide syndrome; Sc phocomelia syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the establishment of sister chromatid cohesion N-acetyltransferase 2 gene (ESCO2, 609353.0001);

Laboratory abnormalities : Premature separation of centromeric heterochromatin; Normal karyotype; Abnormal nuclear morphology;

Prefixed ID : #268300;

Details

Origin ID

268300;

UMLS CUI

C0392475;

Automatic exact mappings (from CISMeF team)
- RB1 Positive [NCIt concept]
- RB1 wt Allele [NCIt concept]
- Retinoblastoma [NCIt concept]
- Retinoblastoma-Associated Protein [NCIt concept]
- Roberts syndrome [MedDRA Preferred Term]
- Rubidium [NCIt concept]
- symbol withdrawn RBS [HGNC gene]
Currated CISMeF NLP mapping
- Roberts Syndrome [NCIt concept]
- Roberts Syndrome [MeSH concept]
- Roberts syndrome [DO Concept]
- Roberts syndrome [ICD-11 More detail]
- Roberts syndrome [ORDO Disease]
- Roberts-SC Phocomelia Syndrome [NCIt concept]
- Roberts-SC phocomelia syndrome (disorder) [SNOMED CT concept]
- roberts syndrome [MeSH Supplementary Concept]
- roberts-sc phocomelia syndrome [SNOMED Notion]
DO Cross reference
- Roberts syndrome [DO Concept]
Genes related to phenotype
- Establishment of sister chromatid cohesion n-acetyltransferase 2 [OMIM gene]
HPO term(s)
- Abnormal metacarpal morphology [HPO term]
- Abnormality of the metacarpal bones [HPO term]
- Abnormality of the pinna [HPO term]
- Absent earlobe [HPO term]
- Accessory spleen [HPO term]
- Ankle flexion contracture [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Biliary tract abnormality [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Cafe-au-lait spot [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Clitoral hypertrophy [HPO term]
- Coloboma [HPO term]
- Corneal opacity [HPO term]
- Cranial nerve paralysis [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Cystic hygroma [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow flexion contracture [HPO term]
- Enlarged labia minora [HPO term]
- Eyelid coloboma [HPO term]
- Frontal encephalocele [HPO term]
- Hand oligodactyly [HPO term]
- High palate [HPO term]
- Horseshoe kidney [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Long penis [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Midface capillary hemangioma [HPO term]
- Mild-severe postnatal growth deficiency [HPO term]
- Narrow naris [HPO term]
- Opacification of the corneal stroma [HPO term]
- Patent ductus arteriosus [HPO term]
- Phocomelia [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Premature separation of centromeric heterochromatin [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Radial deviation of finger [HPO term]
- Severe intrauterine growth retardation [HPO term]
- Shallow orbits [HPO term]
- Short neck [HPO term]
- Sparse hair [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Syndactyly [HPO term]
- Talipes equinovalgus [HPO term]
- Tetraphocomelia [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- Roberts syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudothalidomide syndrome [MedDRA LLT]
- Roberts Syndrome [MeSH concept]
- Roberts Syndrome [NCIt concept]
- Roberts syndrome [ORDO Disease]
- Roberts syndrome [DO Concept]
- Roberts syndrome [MedDRA Preferred Term]
- Roberts-SC Phocomelia Syndrome [NCIt concept]
- Roberts-SC phocomelia syndrome (disorder) [SNOMED CT concept]
- roberts syndrome [MeSH Supplementary Concept]
- roberts-sc phocomelia syndrome [SNOMED Notion]

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