Cleft palate with or without ankyloglossia, X-linked

Preferred Label : Cleft palate with or without ankyloglossia, X-linked;

Symbol : CPX;

CISMeF acronym : CPX;

Type : Phenotype, molecular basis known;

Inheritance : X-linked;

Prefixed ID : #303400;

Details

Origin ID

303400;

UMLS CUI

C1844830;

Automatic exact mappings (from CISMeF team)
- Cardiopulmonary Exercise Testing [NCIt concept]
- EBP cholestenol delta-isomerase [ORDO Gene]
- EBP cholestenol delta-isomerase [HGNC gene]
- EBP wt Allele [NCIt concept]
- TBX22 wt Allele [NCIt concept]
- coproporphyrinogen oxidase [ORDO Gene]
- coproporphyrinogen oxidase [HGNC gene]
- symbol withdrawn CPX [HGNC gene]
Currated CISMeF NLP mapping
- X-linked cleft palate and ankyloglossia [ORDO Disease]
- X-linked cleft palate and ankyloglossia (disorder) [SNOMED CT concept]
- X-linked cleft palate with or without ankyloglossia [DO Concept]
- cleft palate X-linked [MeSH concept]
- cleft palate X-linked [MeSH Supplementary Concept]
DO Cross reference
- X-linked cleft palate with or without ankyloglossia [DO Concept]
Genes related to phenotype
- T-box transcription factor 22 [OMIM gene]
HPO term(s)
- Ankyloglossia [HPO term]
- Bifid uvula [HPO term]
- Cleft palate [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked cleft palate and ankyloglossia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked cleft palate with or without ankyloglossia [DO Concept]
- cleft palate X-linked [MeSH Supplementary Concept]
- cleft palate X-linked [MeSH concept]

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