Acromesomelic dysplasia 2b

Preferred Label : Acromesomelic dysplasia 2b;

Symbol : AMD2B;

CISMeF acronym : DUPANS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fibular hypoplasia and complex brachydactyly; Du pan syndrome; DUPANS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cartilage-derived morphogenetic protein-1 gene (CDMP1, 601146.0005);

Prefixed ID : #228900;

Détails

Origin ID

228900;

UMLS CUI

C1856738;

CISMeF manual mappings
- Aplasia of fibula co-occurrent with complex brachydactyly (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- DuPan syndrome [Disease (Nov.)]
- Fibular aplasia - complex brachydactyly [ICD-11 More detail]
- Fibular aplasia-complex brachydactyly syndrome [ORDO Disease]
- Fibular hypoplasia and complex brachydactyly [MeSH concept]
- fibular hypoplasia and complex brachydactyly [DO Concept]
- fibular hypoplasia and complex brachydactyly [MeSH Supplementary Concept]
DO Cross reference
- fibular hypoplasia and complex brachydactyly [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- Absent toe [HPO term]
- Aplastic/hypoplastic toenail [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Deformed tarsal bones [HPO term]
- Deviation of finger [HPO term]
- Fibular aplasia [HPO term]
- Fibular hypoplasia [HPO term]
- Malaligned carpal bone [HPO term]
- Patellar dislocation [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short phalanx of finger [HPO term]
- Small nail [HPO term]
- Talipes equinovalgus [HPO term]
ORDO concept(s)
- Fibular aplasia-complex brachydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aplasia of fibula co-occurrent with complex brachydactyly (disorder) [SNOMED CT concept]
- DuPan syndrome [Disease (Nov.)]
- Fibular aplasia-complex brachydactyly syndrome [ORDO Disease]
- Fibular hypoplasia and complex brachydactyly [MeSH concept]
- fibular hypoplasia and complex brachydactyly [MeSH Supplementary Concept]
- fibular hypoplasia and complex brachydactyly [DO Concept]

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