Gracile bone dysplasia

Preferred Label : Gracile bone dysplasia;

Symbol : GCLEB;

CISMeF acronym : GCLEB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Skeletal dysplasia, lethal, with gracile bones; OSTEOCRANIOSTENOSIS; HABRODYSPLASIA; Osteocraniosplenic syndrome;

Description : Gracile bone dysplasia is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by Unger et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the family with sequence similarity 111, member A, gene (FAM111A, 615292.0002);

Laboratory abnormalities : Hypocalcemia;

Prefixed ID : #602361;

Details

Origin ID

602361;

UMLS CUI

C1865639;

Automatic exact mappings (from CISMeF team)
- Osteocraniostenosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Gracile bone dysplasia [MeSH concept]
- Osteocraniostenosis [ORDO Disease]
- Osteocraniostenosis (disorder) [SNOMED CT concept]
- gracile bone dysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Family with sequence similarity 111, member a [OMIM gene]
HPO term(s)
- Aniridia [HPO term]
- Ankyloglossia [HPO term]
- Ascites [HPO term]
- Asplenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Decreased skull ossification [HPO term]
- Failure to thrive [HPO term]
- Flared metaphysis [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypocalcemia [HPO term]
- Hypoplastic spleen [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Slender long bone [HPO term]
- Thin ribs [HPO term]
ORDO concept(s)
- Osteocraniostenosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gracile bone dysplasia [MeSH concept]
- Osteocraniostenosis [ORDO Disease]
- Osteocraniostenosis (disorder) [SNOMED CT concept]
- gracile bone dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients