Lessel-kubisch syndrome

Preferred Label : Lessel-kubisch syndrome;

Symbol : LSKB;

CISMeF acronym : LSKB;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MDM2 protooncogene gene (MDM2, 164785.0002);

Prefixed ID : #618681;

Details

Origin ID

618681;

UMLS CUI

C5231460;

Automatic exact mappings (from CISMeF team)
- MDM2 wt Allele [NCIt concept]
- Urubú-Kaapor sign language (qualifier value) [SNOMED CT concept]
Genes related to phenotype
- Mdm2 protooncogene [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- High pitched voice [HPO term]
- Hypertension [HPO term]
- Hypogonadism [HPO term]
- Narrow mouth [HPO term]
- Narrow nasal bridge [HPO term]
- Premature graying of hair [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Short stature [HPO term]
- Sparse pubic hair [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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