Kniest-like dysplasia with pursed lips and ectopia lentis

Preferred Label : Kniest-like dysplasia with pursed lips and ectopia lentis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Burton syndrome;

Inheritance : Isolated cases;

Prefixed ID : 245160;

Détails

Origin ID

245160;

UMLS CUI

C1855606;

Automatic exact mappings (from CISMeF team)
- Schwartz-Jampel syndrome [ORDO Disease]
- Schwartz-Jampel syndrome (disorder) [SNOMED CT concept]
- Schwartz-Jampel syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Kniest-Like dysplasia with pursed lips and ectopia lentis [MeSH concept]
- Kniest-Like dysplasia with pursed lips and ectopia lentis [MeSH Supplementary Concept]
HPO term(s)
- Absent ossification of capital femoral epiphysis [HPO term]
- Cervical kyphosis [HPO term]
- Deep philtrum [HPO term]
- Ectopia lentis [HPO term]
- Femoral bowing [HPO term]
- Flexion contracture [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Isolated cases [HPO term]
- Joint stiffness [HPO term]
- Narrow mouth [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Ptosis [HPO term]
- Pursed lips [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sporadic [HPO term]
- Tibial bowing [HPO term]
Not associated HPO term(s)
- Coronal cleft vertebrae [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest-Like dysplasia with pursed lips and ectopia lentis [MeSH Supplementary Concept]
- Kniest-Like dysplasia with pursed lips and ectopia lentis [MeSH concept]

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