Geleophysic Dysplasia 1

Preferred Label : Geleophysic Dysplasia 1;

NCIt synonyms : GPHYSD1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ADAMTSL2 gene, encoding ADAMTS-like protein 2. It is characterized by severe short stature, short hands and feet, skin thickening, and variable cardiorespiratory abnormalities.;

Details

Origin ID

C202607;

UMLS CUI

C3278147;

Currated CISMeF NLP mapping
- Geleophysic dysplasia 1 [OMIM Phenotype]
- geleophysic dysplasia 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Geleophysic dysplasia 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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