Cdags syndrome

Preferred Label : Cdags syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniosynostosis, anal anomalies, and porokeratosis; Cap syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : #603116;

Détails

Origin ID

603116;

UMLS CUI

C1864186;

Automatic exact mappings (from CISMeF team)
- Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) [SNOMED CT concept]
- camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DO Concept]
Currated CISMeF NLP mapping
- Craniosynostosis - anal anomalies - porokeratosis [ICD-11 More detail]
- Craniosynostosis, anal anomalies, and porokeratosis [MeSH concept]
- Craniosynostosis-anal anomalies-porokeratosis syndrome [ORDO Disease]
- craniosynostosis, anal anomalies, and porokeratosis [MeSH Supplementary Concept]
Genes related to phenotype
- Rna, u12 small nuclear [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cleft palate [HPO term]
- Coronal craniosynostosis [HPO term]
- Delayed cranial suture closure [HPO term]
- Ectropion [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hypoplastic clavicles [HPO term]
- Hypospadias [HPO term]
- Kyphosis [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Parietal foramina [HPO term]
- Porokeratosis [HPO term]
- Ptosis [HPO term]
- Rectourethral fistula [HPO term]
- Rectovaginal fistula [HPO term]
- Sagittal craniosynostosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short clavicles [HPO term]
- Short ribs [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
ORDO concept(s)
- Craniosynostosis-anal anomalies-porokeratosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniosynostosis, anal anomalies, and porokeratosis [MeSH concept]
- Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis-anal anomalies-porokeratosis syndrome [ORDO Disease]
- craniosynostosis, anal anomalies, and porokeratosis [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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