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Dermatoosteolysis, Kirghizian type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia
SNOMED CT: Dermatoosteolysis Kirghizian type (721090002); Kirghizian dermatoosteolysis (721090002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0009095
OMIM®: 221810
Orphanet: ORPHA1657


Disease with characteristics of recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five siblings in a family of Kirghizian origin (Central Asia). Three of the siblings also presented with keratitis leading to visual impairment or blindness. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDermatoosteolysis, Kirghizian type
Follow this link to review classifications for Dermatoosteolysis, Kirghizian type in Orphanet.

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