Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly

Preferred Label : Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fuhrmann syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 7A gene (WNT7A, 601570.0002);

Prefixed ID : #228930;

Details

Origin ID

228930;

UMLS CUI

C1856728;

Automatic exact mappings (from CISMeF team)
- Fuhrmann-Rieger-de Sousa syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Fuhrmann syndrome [Disease (Nov.)]
- Fuhrmann syndrome [DO Concept]
- Fuhrmann syndrome [MeSH concept]
- Fuhrmann syndrome [ORDO Disease]
- Fuhrmann syndrome (disorder) [SNOMED CT concept]
- fuhrmann syndrome [MeSH Supplementary Concept]
DO Cross reference
- Fuhrmann syndrome [DO Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 7a [OMIM gene]
HPO term(s)
- Abnormal finger flexion creases [HPO term]
- Absent toenail [HPO term]
- Amenorrhea [HPO term]
- Aplasia/Hypoplasia involving the metacarpal bones [HPO term]
- Aplasia/Hypoplasia of fingers [HPO term]
- Aplasia/Hypoplasia of metatarsal bones [HPO term]
- Aplasia/Hypoplasia of the 5th finger [HPO term]
- Aplasia/Hypoplasia of the fibula [HPO term]
- Aplasia/Hypoplasia of the phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the ulna [HPO term]
- Aplasia/hypoplasia of the femur [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Congenital hip dislocation [HPO term]
- Femoral bowing [HPO term]
- Fibular aplasia [HPO term]
- Finger syndactyly [HPO term]
- Foot oligodactyly [HPO term]
- Hand oligodactyly [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic pelvis [HPO term]
- Patellar aplasia [HPO term]
- Postaxial hand polydactyly [HPO term]
- Radial bowing [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Toe syndactyly [HPO term]
- Ulnar deviation of finger [HPO term]
ORDO concept(s)
- Fuhrmann syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fuhrmann syndrome [ORDO Disease]
- Fuhrmann syndrome [MeSH concept]
- Fuhrmann syndrome [DO Concept]
- Fuhrmann syndrome [Disease (Nov.)]
- Fuhrmann syndrome (disorder) [SNOMED CT concept]
- fuhrmann syndrome [MeSH Supplementary Concept]

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