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Diseases

Geroderma Osteodysplastica

geroderma osteodysplastica

Entity Type
Diseases
Relation Groups
1
Relation Preview
4

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Geroderma Osteodysplastica
Standard Disease Name
geroderma osteodysplastica
MeSH Tree
No data
ICD-10
L60.5

Identifiers

DO ID
No data
MeSH ID
D056684
OMIM ID
153300
UMLS ID
C0221348
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A rare syndrome characterized by the presence of thickened yellow nails, lymphedema, and respiratory abnormalities, including pleural effusion, bronchiectasis, chronic sinusitis, and persistent cough. Some cases are associated with mutations in the FOXC2 gene.|MSH2017_2016_08_12:A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease4 Targets
04
PYCR1
pyrroline-5-carboxylate reductase 1
pyrroline-5-carboxylate reductase 1