Sc phocomelia syndrome

Preferred Label : Sc phocomelia syndrome;

Obsolete resource : true;

Moved to : 268300;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sc pseudothalidomide syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in establishment of sister chromatid cohesion N-acetyltransferase 2 gene (ESCO2, 609353.0004);

Laboratory abnormalities : Premature separation of centromeric heterochromatin;

Prefixed ID : 269000;

Details

Origin ID

269000;

UMLS CUI

C0392475;

Automatic exact mappings (from CISMeF team)
- Roberts syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Roberts Syndrome [MeSH concept]
- Roberts Syndrome [NCIt concept]
- Roberts syndrome [ICD-11 More detail]
- Roberts syndrome [DO Concept]
- 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]
HPO term(s)
- Absent radius [HPO term]
- Aortic valve stenosis [HPO term]
- Aplasia of the ulna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blond hair [HPO term]
- Blue sclerae [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Fair hair [HPO term]
- Global developmental delay [HPO term]
- Hip contracture [HPO term]
- Intrauterine growth retardation [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midface capillary hemangioma [HPO term]
- Phocomelia [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature separation of centromeric heterochromatin [HPO term]
- Radial deviation of finger [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Sparse hair [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wormian bones [HPO term]
- absence of radius and ulna [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]

Keyword's position in hierarchy(ies) :

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