Fitzsimmons-guilbert syndrome

Preferred Label : Fitzsimmons-guilbert syndrome;

Obsolete resource : true;

Moved to : 616944; 270550; 190350;

Alternative titles and symbols : Spastic paraplegia associated with brachydactyly type e; Fitzsimmons syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 270710;

Details

Origin ID

270710;

UMLS CUI

C0795942;

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

Keyword's position in hierarchy(ies) :

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