Chondrodysplasia punctata 1, X-linked recessive

Preferred Label : Chondrodysplasia punctata 1, X-linked recessive;

Symbol : CDPX1;

CISMeF acronym : CDPX1; CPXR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondrodysplasia punctata, brachytelephalangic; CPXR;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the arylsulfatase E gene (ARSE, 300180.0001);

Prefixed ID : #302950;

Details

Origin ID

302950;

UMLS CUI

C3669395;

Automatic exact mappings (from CISMeF team)
- symbol withdrawn CDPX1 [HGNC gene]
Broader ORDO disease(s)
- Brachytelephalangic chondrodysplasia punctata [ORDO Disease]
Currated CISMeF NLP mapping
- Brachytelephalangic chondrodysplasia punctata (disorder) [SNOMED CT concept]
- X-Linked chondrodysplasia punctata 1 [MeSH Supplementary Concept]
- x linked chondrodysplasia punctata 1 x inked recessive [Disease (Nov.)]
DO Cross reference
- X-linked chondrodysplasia punctata 1 [DO Concept]
Genes related to phenotype
- Arylsulfatase L [OMIM gene]
HPO term(s)
- Abnormality of the vertebral column [HPO term]
- Anosmia [HPO term]
- Cataract [HPO term]
- Depressed nasal bridge [HPO term]
- Epiphyseal stippling [HPO term]
- Flattened nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypogonadism [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Microcephaly [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nasal septum [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Brachytelephalangic chondrodysplasia punctata [ORDO Disease]
See also inter- (CISMeF)
- X-linked chondrodysplasia punctata 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachytelephalangic chondrodysplasia punctata [ORDO Disease]
- Brachytelephalangic chondrodysplasia punctata (disorder) [SNOMED CT concept]
- X-Linked chondrodysplasia punctata 1 [MeSH concept]
- X-Linked chondrodysplasia punctata 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Brachytelephalangic chondrodysplasia punctata [ORDO Disease]

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