Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension

Preferred Label : Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension;

Symbol : ICPPS;

CISMeF acronym : ICPPS; SPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scott-taor syndrome; SPS; Patella aplasia, coxa vara, and tarsal synostosis; Coxopodopatellar syndrome; Small patella syndrome; Ischiopatellar dysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the T-box 4 gene (TBX4, 601719.0001);

Prefixed ID : #147891;

Details

Origin ID

147891;

UMLS CUI

C1840061;

Automatic exact mappings (from CISMeF team)
- Patella aplasia - coxa vara - tarsal synostosis [ICD-11 More detail]
- Patella aplasia, coxa vara, tarsal synostosis [MeSH concept]
- Status post (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Stiff person spectrum disorder [ORDO Disease]
- TBX4 wt Allele [NCIt concept]
- ischiocoxopodopatellar syndrome [DO Concept]
- patella aplasia, coxa vara, tarsal synostosis [MeSH Supplementary Concept]
- spermine synthase [ORDO Gene]
- sucrose-phosphate synthase activity [GO term]
Currated CISMeF NLP mapping
- Coxopodopatellar syndrome [ICD-11 More detail]
- Coxopodopatellar syndrome [ORDO Disease]
- Coxopodopatellar syndrome (disorder) [SNOMED CT concept]
- Ischiopatellar dysplasia [MeSH concept]
- ischiopatellar dysplasia [MeSH Supplementary Concept]
DO Cross reference
- ischiocoxopodopatellar syndrome [DO Concept]
False automatic mappings
- Spain [NCIt concept]
Genes related to phenotype
- T-box transcription factor 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Coxa vara [HPO term]
- Flat capital femoral epiphysis [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the lesser trochanter [HPO term]
- Micrognathia [HPO term]
- Patellar aplasia [HPO term]
- Patellar dislocation [HPO term]
- Patellar hypoplasia [HPO term]
- Pes planus [HPO term]
- Sandal gap [HPO term]
- Short femur [HPO term]
- Short stature [HPO term]
- Talocalcaneal synostosis [HPO term]
- Tarsal synostosis [HPO term]
- Wide capital femoral epiphyses [HPO term]
Not associated HPO term(s)
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Coxopodopatellar syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coxopodopatellar syndrome [ORDO Disease]
- Coxopodopatellar syndrome (disorder) [SNOMED CT concept]
- Ischiopatellar dysplasia [MeSH concept]
- Small patella syndrome [MedDRA Preferred Term]
- ischiopatellar dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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