Rhizomelic Chondrodysplasia Punctata

Preferred Label : Rhizomelic Chondrodysplasia Punctata;

NCIt related terms : Rhizomelic Chondrodysplasia Punctata Syndrome; Rhizomelic Dwarfism;

NCIt definition : An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.;

Details

Origin ID

C85047;

UMLS CUI

C0282529;

Automatic exact mappings (from CISMeF team)
- Rhizomelia [HPO term]
- Rhizomelic chondrodysplasia punctata [OMIM phenotypic series]
- Rhizomelic dwarfism [HPO term]
Currated CISMeF NLP mapping
- Rhizomelic chondrodysplasia punctata [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata type 1 [ORDO Disease]
- chondrodysplasia punctata, rhizomelic [MeSH Descriptor]
- chondrodysplasia punctata, rhizomelic [MeSH concept]
- rhizomelic chondrodysplasia punctata [DO Concept]
- rhizomelic chondrodysplasia punctata [Disease (Nov.)]
- rhizomelic chondrodysplasia punctata syndrome [SNOMED Notion]
DO Cross reference
- rhizomelic chondrodysplasia punctata [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
- chondrodysplasia punctata, rhizomelic [MeSH concept]
- chondrodysplasia punctata, rhizomelic [MeSH Descriptor]
- rhizomelic chondrodysplasia punctata [DO Concept]
- rhizomelic chondrodysplasia punctata [Disease (Nov.)]
- rhizomelic chondrodysplasia punctata syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Rhizomelic chondrodysplasia punctata type 1 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata, type 1 [OMIM Phenotype]
- Rhizomelic chondrodysplasia punctata, type 1 [MeSH concept]
- rhizomelic chondrodysplasia punctata type 1 [DO Concept]
- rhizomelic chondrodysplasia punctata, type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Nervous System [NCIt concept]
related_to_genetic_biomarker
- AGPS Gene [NCIt concept]
- GNPAT Gene [NCIt concept]
- PEX5 Gene [NCIt concept]
- PEX7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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