Humerofemoral hypoplasia with radiotibial ray deficiency

Preferred Label : Humerofemoral hypoplasia with radiotibial ray deficiency;

Symbol : HHRRD;

CISMeF acronym : HFHRTRD; HHRRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HFHRTRD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the R-spondin 2 gene (RSPO2, 610575.0003);

Prefixed ID : #618022;

Details

Origin ID

618022;

UMLS CUI

C4747940;

Automatic exact mappings (from CISMeF team)
- RSPO2 wt Allele [NCIt concept]
Genes related to phenotype
- R-spondin 2 [OMIM gene]
HPO term(s)
- Absent thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Bowed humerus [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Hypoplastic pelvis [HPO term]
- Hypoplastic scapulae [HPO term]
- Prominent glabella [HPO term]
- Retrognathia [HPO term]
- Short clavicles [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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