Rhizomelic chondrodysplasia punctata, type 5

Preferred Label : Rhizomelic chondrodysplasia punctata, type 5;

Symbol : RCDP5;

CISMeF acronym : RCDP5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 5 gene (PEX5, 600414.0003);

Prefixed ID : #616716;

Details

Origin ID

616716;

UMLS CUI

C4225237;

Currated CISMeF NLP mapping
- Rhizomelic chondrodysplasia punctata type 5 [ORDO Disease]
- rhizomelic chondrodysplasia punctata type 5 [DO Concept]
DO Cross reference
- rhizomelic chondrodysplasia punctata type 5 [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 5 [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Congenital onset [HPO term]
- Contractures of the large joints [HPO term]
- Convulsive status epilepticus [HPO term]
- Coxa vara [HPO term]
- Developmental cataract [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Horizontal nystagmus [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability, severe [HPO term]
- Irregular capital femoral epiphysis [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal irregularity [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Narrow iliac wing [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Short femoral neck [HPO term]
- Short humerus [HPO term]
- Short stature [HPO term]
- Sinus tachycardia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Swan neck-like deformities of the fingers [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic scoliosis [HPO term]
- Vertical nystagmus [HPO term]
ORDO concept(s)
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic chondrodysplasia punctata type 5 [ORDO Disease]
- rhizomelic chondrodysplasia punctata type 5 [DO Concept]

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