Osteoglophonic dysplasia

Preferred Label : Osteoglophonic dysplasia;

Symbol : OGD;

CISMeF acronym : OGD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteoglophonic dwarfism;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0008);

Prefixed ID : #166250;

Details

Origin ID

166250;

UMLS CUI

C0432283;

Automatic exact mappings (from CISMeF team)
- Esophagogastroduodenoscopy (procedure) [SNOMED CT concept]
- FGFR1 wt Allele [NCIt concept]
- Osteoglophonic dysplasia [ICD-11 More detail]
- Osteoglophonic dysplasia (disorder) [SNOMED CT concept]
- osteoglophonic dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Osteoglophonic dwarfism [MeSH concept]
- Osteoglosphonic dysplasia [ORDO Disease]
- osteoglophonic dwarfism [MeSH Supplementary Concept]
DO Cross reference
- osteoglophonic dysplasia [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 1 [OMIM gene]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bowing of the long bones [HPO term]
- Broad foot [HPO term]
- Broad metacarpals [HPO term]
- Broad metatarsal [HPO term]
- Broad palm [HPO term]
- Broad phalanx [HPO term]
- Chordee [HPO term]
- Cloverleaf skull [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Eruption failure [HPO term]
- Failure to thrive [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Genu varus [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypoplastic toenails [HPO term]
- Hypospadias [HPO term]
- Increased susceptibility to fractures [HPO term]
- Inguinal hernia [HPO term]
- Limb undergrowth [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Midface retrusion [HPO term]
- Nasal congestion [HPO term]
- Platyspondyly [HPO term]
- Pseudoarthrosis [HPO term]
- Respiratory distress [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic dwarfism [HPO term]
- Shallow orbits [HPO term]
- Short broad hands [HPO term]
- Short foot [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short scapulae [HPO term]
- Short, bowed limbs [HPO term]
- Short, broad metacarpals [HPO term]
- Short, broad metatarsals [HPO term]
- Short, wide phalanges [HPO term]
- Speech delay [HPO term]
ORDO concept(s)
- Osteoglosphonic dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Osteoglophonic dwarfism [MeSH concept]
- Osteoglophonic dysplasia (disorder) [SNOMED CT concept]
- Osteoglosphonic dysplasia [ORDO Disease]
- osteoglophonic dwarfism [MeSH Supplementary Concept]
- osteoglophonic dysplasia [DO Concept]

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