Terminal osseous dysplasia

Preferred Label : Terminal osseous dysplasia;

Symbol : TOD;

CISMeF acronym : ODPD; ODPF; TOD; TODPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TODPD; Terminal osseous dysplasia and pigmentary defects; Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula; ODPD; ODPF; Odpf syndrome;

Description : Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the filamin A gene (FLNA, 300017.0029);

Prefixed ID : #300244;

Details

Origin ID

300244;

UMLS CUI

C1846129;

Automatic exact mappings (from CISMeF team)
- directly observed therapy [MeSH Descriptor]
Currated CISMeF NLP mapping
- Terminal osseous dysplasia - pigmentary defects [ICD-11 More detail]
- Terminal osseous dysplasia-pigmentary defects syndrome [ORDO Disease]
- terminal osseous dysplasia and pigmentary defects [MeSH concept]
- terminal osseous dysplasia and pigmentary defects [MeSH Supplementary Concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Abnormal bone structure [HPO term]
- Abnormal foot bone ossification [HPO term]
- Abnormal hand bone ossification [HPO term]
- Abnormal oral frenulum morphology [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Abnormality of the lower limb [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly of finger [HPO term]
- Camptodactyly of toe [HPO term]
- Cleft palate [HPO term]
- Depressed nasal tip [HPO term]
- Epicanthus [HPO term]
- Fibroma [HPO term]
- Hypertelorism [HPO term]
- Iris coloboma [HPO term]
- Localized skin lesion [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mesomelic arm shortening [HPO term]
- Mesomelic leg shortening [HPO term]
- Multiple joint contractures [HPO term]
- Ptosis [HPO term]
- Short toe [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- Toe clinodactyly [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Terminal osseous dysplasia-pigmentary defects syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Terminal osseous dysplasia - pigmentary defects [ICD-11 More detail]
- Terminal osseous dysplasia-pigmentary defects syndrome [ORDO Disease]
- terminal osseous dysplasia [DO Concept]
- terminal osseous dysplasia and pigmentary defects [MeSH Supplementary Concept]
- terminal osseous dysplasia and pigmentary defects [MeSH concept]

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