Rhizomelic skeletal dysplasia with or without pelger-huet anomaly

Preferred Label : Rhizomelic skeletal dysplasia with or without pelger-huet anomaly;

Symbol : SKPHA;

CISMeF acronym : PHASK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Regressive spondylometaphyseal dysplasia; Pelger-huet anomaly with mild skeletal anomalies; PHASK;

Prefixed ID : #618019;

Details

Origin ID

618019;

UMLS CUI

C4747922;

Currated CISMeF NLP mapping
- Regressive spondylometaphyseal dysplasia [ORDO Disease]
- Regressive spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
Genes related to phenotype
- Lamin b receptor [OMIM gene]
ORDO concept(s)
- Regressive spondylometaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Regressive spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]

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