Geroderma osteodysplasticum

Preferred Label : Geroderma osteodysplasticum;

Symbol : GO;

CISMeF acronym : GO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Walt disney dwarfism; Gerodermia osteodysplastica;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RAB6-interacting golgin gene (GORAB, 607893.0001);

Laboratory abnormalities : Normal isoelectric focusing of serum transferrin;

Prefixed ID : #231070;

Details

Origin ID

231070;

UMLS CUI

C0432255;

Automatic exact mappings (from CISMeF team)
- Gene Ontology [NCIt concept]
- Into (attribute) [SNOMED CT concept]
- golgin, RAB6 interacting [ORDO Gene]
- golgin, RAB6 interacting [HGNC gene]
Currated CISMeF NLP mapping
- Geroderma osteodysplastica [ORDO Disease]
- Geroderma osteodysplastica (disorder) [SNOMED CT concept]
- Geroderma osteodysplasticum [ICD-11 More detail]
- Gerodermia osteodysplastica [MeSH concept]
- Osteodysplastic gerodermia [PASCAL descriptor]
- geroderma osteodysplasticum [DO Concept]
- gerodermia osteodysplastica [Disease (Nov.)]
- gerodermia osteodysplastica [MeSH Supplementary Concept]
DO Cross reference
- geroderma osteodysplasticum [DO Concept]
Genes related to phenotype
- Golgin, rab6-interacting [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Biconcave vertebral bodies [HPO term]
- Camptodactyly [HPO term]
- Cutis laxa [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Dwarfism [HPO term]
- Femoral bowing [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Increased susceptibility to fractures [HPO term]
- Intellectual disability [HPO term]
- Irregular vertebral endplates [HPO term]
- Kyphoscoliosis [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Periodontitis [HPO term]
- Platyspondyly [HPO term]
- Progeroid facial appearance [HPO term]
- Recurrent fractures [HPO term]
- Severe short stature [HPO term]
- Tibial bowing [HPO term]
- Vertebral compression fracture [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Abnormality of the dentition [HPO term]
ORDO concept(s)
- Geroderma osteodysplastica [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Geroderma osteodysplastica [ORDO Disease]
- Geroderma osteodysplastica (disorder) [SNOMED CT concept]
- Geroderma osteodysplasticum [ICD-11 More detail]
- Gerodermia osteodysplastica [MeSH concept]
- Osteodysplastic gerodermia [PASCAL descriptor]
- geroderma osteodysplasticum [DO Concept]
- gerodermia osteodysplastica [MeSH Supplementary Concept]
- gerodermia osteodysplastica [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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