Progressive pseudorheumatoid dysplasia

Preferred Label : Progressive pseudorheumatoid dysplasia;

Symbol : PPRD;

CISMeF acronym : PPAC; PPD; SEDT-PA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PPAC; Spondyloepiphyseal dysplasia tarda with progressive arthropathy; SEDT-PA; PPD; Progressive pseudorheumatoid arthropathy of childhood; Arthropathy, progressive pseudorheumatoid, of childhood;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the WNT1-inducible signalling pathways protein 3 (WISP3, 603400.0001);

Laboratory abnormalities : Normal sedimentation rate; Negative rheumatoid factor;

Prefixed ID : #208230;

Details

Origin ID

208230;

UMLS CUI

C0432215;

Automatic exact mappings (from CISMeF team)
- AGO2 wt Allele [NCIt concept]
- CCN6 wt Allele [NCIt concept]
- HPD wt Allele [NCIt concept]
- Parametric Probability Distribution [NCIt concept]
- Protein Argonaute-2 [NCIt concept]
- Purified Protein Derivative [NCIt concept]
- peripeduncular nucleus [UBERON concept]
- purified protein derivative [SNOMED Notion]
- visual system homeobox 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Arthropathy, progressive pseudorheumatoid, of childhood [MeSH concept]
- Progressive Pseudorheumatoid Dysplasia [NCIt concept]
- Progressive pseudorheumatoid arthropathy of childhood [ICD-11 More detail]
- Progressive pseudorheumatoid arthropathy of childhood [ORDO Disease]
- Progressive pseudorheumatoid dysplasia (disorder) [SNOMED CT concept]
- arthropathy, progressive pseudorheumatoid, of childhood [MeSH Supplementary Concept]
- progressive pseudorheumatoid arthropathy of childhood [DO Concept]
DO Cross reference
- progressive pseudorheumatoid arthropathy of childhood [DO Concept]
False automatic mappings
- Product of Perpendicular Diameters [NCIt concept]
- purified protein derivative of tuberculin [MeSH concept]
- tuberculin [MeSH Descriptor]
Genes related to phenotype
- Cellular communication network factor 6 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Coxa vara [HPO term]
- Decreased cervical spine mobility [HPO term]
- Difficulty walking [HPO term]
- Enlarged epiphyses [HPO term]
- Enlarged interphalangeal joints [HPO term]
- Enlarged metacarpophalangeal joints [HPO term]
- Enlargement of the proximal femoral epiphysis [HPO term]
- Flattened epiphysis [HPO term]
- Genu varum [HPO term]
- Joint contracture of the hand [HPO term]
- Joint stiffness [HPO term]
- Joint swelling [HPO term]
- Kyphoscoliosis [HPO term]
- Metaphyseal widening [HPO term]
- Muscle weakness [HPO term]
- Osteoarthritis [HPO term]
- Osteoporosis [HPO term]
- Platyspondyly [HPO term]
- Sclerotic vertebral endplates [HPO term]
- Waddling gait [HPO term]
- flattened, enlarged epiphyses [HPO term]
ORDO concept(s)
- Progressive pseudorheumatoid arthropathy of childhood [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthropathy, progressive pseudorheumatoid, of childhood [MeSH concept]
- Progressive Pseudorheumatoid Dysplasia [NCIt concept]
- Progressive pseudorheumatoid arthropathy of childhood [ORDO Disease]
- Progressive pseudorheumatoid arthropathy of childhood [ICD-11 More detail]
- Progressive pseudorheumatoid dysplasia (disorder) [SNOMED CT concept]
- arthropathy, progressive pseudorheumatoid, of childhood [MeSH Supplementary Concept]
- progressive pseudorheumatoid arthropathy of childhood [DO Concept]

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