Dermatoosteolysis, kirghizian type

Preferred Label : Dermatoosteolysis, kirghizian type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Kirghizian dermatoosteolysis;

Description : In 5 sibs (2 male, 3 female) of a family living in Kirghiz of Soviet Central Asia, Kozlova et al. (1983) described a disorder that began in infancy and ran its course by age 11 years. The features were recurrent skin ulceration, arthralgia, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy, and keratitis with visual impairment or blindness (in 3 of the 5). Affected hands and feet resembled those of acromegaly. Fingers became clawed. Involvement of growth plates around the knees led to asymmetric shortening with secondary scoliosis. *FIELD* RF 1. Kozlova, S. I.; Altshuler, B. A.; Kravchenko, V. L.: Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family. Am. J. Med. Genet. 15: 205-210, 1983. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 221810;

Détails

Origin ID

221810;

UMLS CUI

C1857301;

Currated CISMeF NLP mapping
- Dermatoosteolysis Kirghizian type [MeSH concept]
- Dermatoosteolysis Kirghizian type (disorder) [SNOMED CT concept]
- Dermatoosteolysis, Kirghizian type [ICD-11 More detail]
- Dermatoosteolysis, Kirghizian type [ORDO Disease]
- dermatoosteolysis kirghizian type [MeSH Supplementary Concept]
HPO term(s)
- Ankle swelling [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Broad foot [HPO term]
- Fever [HPO term]
- Flexion contracture [HPO term]
- Infantile onset [HPO term]
- Joint contracture of the hand [HPO term]
- Keratitis [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Oligodontia [HPO term]
- Osteolysis [HPO term]
- Scoliosis [HPO term]
- Skin ulcer [HPO term]
- Split hand [HPO term]
ORDO concept(s)
- Dermatoosteolysis, Kirghizian type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dermatoosteolysis Kirghizian type [MeSH concept]
- Dermatoosteolysis Kirghizian type (disorder) [SNOMED CT concept]
- Dermatoosteolysis, Kirghizian type [ORDO Disease]
- Dermatoosteolysis, Kirghizian type [ICD-11 More detail]
- dermatoosteolysis kirghizian type [MeSH Supplementary Concept]

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