Metaphyseal anadysplasia 2

Preferred Label : Metaphyseal anadysplasia 2;

Symbol : MANDP2;

CISMeF acronym : MANDP2;

Type : Phenotype, molecular basis known;

Prefixed ID : #613073;

Détails

Origin ID

613073;

UMLS CUI

C2751322;

Currated CISMeF NLP mapping
- metaphyseal anadysplasia 2 [MeSH concept]
- metaphyseal anadysplasia 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Matrix metalloproteinase 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bowing of the legs [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal widening [HPO term]
- Short femoral neck [HPO term]
Not associated HPO term(s)
- Micromelia [HPO term]
ORDO concept(s)
- Metaphyseal anadysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- metaphyseal anadysplasia 2 [MeSH Supplementary Concept]
- metaphyseal anadysplasia 2 [MeSH concept]

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

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