X-Linked chondrodysplasia punctata 1

Preferred Label : X-Linked chondrodysplasia punctata 1;

CISMeF synonym : Chondrodysplasia punctata, brachytelephalangic;

MeSH synonym : Cdpx1; X-Linked recessive chondrodysplasia punctata 1; arylsulfatase E deficiency; chondrodysplasia punctata 1, X-Linked; Chondrodysplasia punctata 1, X-linked recessive; CDXP1;

Is substance : O;

Détails

Origin ID

C580533;

UMLS CUI

C3669395;

Currated CISMeF NLP mapping
- Chondrodysplasia punctata 1, X-linked recessive [OMIM Phenotype]
- x linked chondrodysplasia punctata 1 x inked recessive [Disease (Nov.)]
DO Cross reference
- X-linked chondrodysplasia punctata 1 [DO Concept]
MeSH term(s) associated for indexing
- chondrodysplasia punctata [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
Record concept(s)
- X-Linked chondrodysplasia punctata 1 [MeSH concept]
See also inter- (CISMeF)
- arylsulfatase L [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia punctata 1, X-linked recessive [OMIM Phenotype]
Validated automatic mappings to NTBT
- Brachytelephalangic chondrodysplasia punctata [ORDO Disease]

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