Details of Disease

General Information of Disease (ID: DISEC815)

Disease Name Osteopathia striata with cranial sclerosis
Synonyms
osteopathia striata-cranial sclerosis syndrome; OSCS; osteopathia striata - cranial sclerosis; osteopathia striata cranial sclerosis; Robinow-Unger syndrome; hyperostosis generalisata with striations; osteopathia striata with cranial sclerosis; Osteopathia striata with cranial sclerosis, X-linked dominant
Definition
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
Disease Hierarchy
DIS7GHNM: Osteopetrosis
DISEC815: Osteopathia striata with cranial sclerosis
Disease Identifiers
MONDO ID
MONDO_0010310
MESH ID
C536053
UMLS CUI
C0432268
OMIM ID
300373
MedGen ID
96590
Orphanet ID
2780
SNOMED CT ID
254129003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMER1 OT8EFJPM Definitive X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.