Russell-silver syndrome, X-linked

Preferred Label : Russell-silver syndrome, X-linked;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Russell-silver-like syndrome with skin pigmentation; Partington syndrome;

Inheritance : X-linked, severe in males and mild in females;

Prefixed ID : 312780;

Details

Origin ID

312780;

UMLS CUI

C0220775;

Automatic exact mappings (from CISMeF team)
- Partington X-linked mental retardation syndrome [MeSH concept]
- Partington syndrome [DO Concept]
- Partington syndrome [ORDO Disease]
- X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) [SNOMED CT concept]
- partington X-linked mental retardation syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Russell-Silver syndrome, X-Linked [MeSH concept]
- Russell-Silver syndrome, X-Linked [MeSH Supplementary Concept]
HPO term(s)
- Cafe-au-lait spot [HPO term]
- Intrauterine growth retardation [HPO term]
- Prenatal growth deficiency [HPO term]
- Triangular face [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Silver-Russell syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Partington syndrome [DO Concept]
- Russell-Silver syndrome, X-Linked [MeSH Supplementary Concept]
- Russell-Silver syndrome, X-Linked [MeSH concept]

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