Cenani-lenz syndactyly syndrome

Preferred Label : Cenani-lenz syndactyly syndrome;

Symbol : CLSS;

CISMeF acronym : CLSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Syndactyly, type VII; Cenani-lenz syndactyly; Cenani syndactylism;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein 4 gene (LRP4, 604270.0001);

Prefixed ID : #212780;

Détails

Origin ID

212780;

UMLS CUI

C1859309;

Automatic exact mappings (from CISMeF team)
- LDL receptor related protein 4 [ORDO Gene]
- LDL receptor related protein 4 [HGNC gene]
Currated CISMeF NLP mapping
- Cenani Lenz syndrome [Disease (Nov.)]
- Cenani-Lenz syndactyly syndrome [DO Concept]
- Cenani-Lenz syndrome [ORDO Disease]
- Syndactyly Cenani Lenz type [MeSH concept]
- Syndactyly type 7 (disorder) [SNOMED CT concept]
- syndactyly cenani lenz type [MeSH Supplementary Concept]
DO Cross reference
- Cenani-Lenz syndactyly syndrome [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Micrognathia [HPO term]
- Prominent forehead [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Cenani-Lenz syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cenani Lenz syndrome [Disease (Nov.)]
- Cenani-Lenz syndactyly syndrome [DO Concept]
- Cenani-Lenz syndrome [ORDO Disease]
- Syndactyly Cenani Lenz type [MeSH concept]
- Syndactyly type 7 (disorder) [SNOMED CT concept]
- syndactyly cenani lenz type [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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