Fitzsimmons-Guilbert syndrome

Preferred Label : Fitzsimmons-Guilbert syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0532399;

UMLS CUI

C0795942;

Currated CISMeF NLP mapping
- Fitzsimmons-guilbert syndrome [OMIM Phenotype]
- Paraplegia-brachydactyly-cone-shaped epiphysis syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- Feeding difficulties [HPO term]
- Hypernasal speech [HPO term]
- Slowly progressive spastic paraplegia [HPO term]
Related record
- Fitzsimmons-Guilbert syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fitzsimmons-guilbert syndrome [OMIM Phenotype]
- Paraplegia-brachydactyly-cone-shaped epiphysis syndrome [ORDO Disease]