Details of Disease

General Information of Disease (ID: DISJ0KWQ)

Disease Name Terminal osseous dysplasia-pigmentary defects syndrome
Synonyms
Odpf syndrome; terminal osseous dysplasia and pigmentary defects; terminal osseous dysplasia; Odpd; osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula; TOD; terminal osseous dysplasia, X-linked dominant
Definition A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
Disease Hierarchy
DISP0R2U: Filamin-related bone disorder
DISMZUIT: Acromelic dysplasia
DISJ0KWQ: Terminal osseous dysplasia-pigmentary defects syndrome
Disease Identifiers
MONDO ID
MONDO_0010279
MESH ID
C564554
UMLS CUI
C1846129
OMIM ID
300244
MedGen ID
335344
Orphanet ID
88630

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FLNA TTSTRZY Strong Biomarker [1]
FLNA TTSTRZY Definitive X-linked [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FLNA OTYZ9JXM Definitive X-linked [2]
------------------------------------------------------------------------------------

References

1 Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
2 The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet. 1996 Apr;58(4):743-8.