Kniest dysplasia

Preferred Label : Kniest dysplasia;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0012);

Laboratory abnormalities : Abnormal cartilage collagen on EM; Keratan sulfaturia in some patients;

Prefixed ID : #156550;

Details

Origin ID

156550;

UMLS CUI

C0265279;

Automatic exact mappings (from CISMeF team)
- Kniest dysplasia [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Kniest Dysplasia [NCIt concept]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [ICD-11 More detail]
- Kniest dysplasia [MeSH concept]
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia (disorder) [Inactive SNOMED CT concept]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [MeSH Supplementary Concept]
- kniest dysplasia [SNOMED Notion]
DO Cross reference
- Kniest dysplasia [DO Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal cartilage collagen [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Coronal cleft vertebrae [HPO term]
- Coxa vara [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Dumbbell-shaped long bone [HPO term]
- Enlarged joints [HPO term]
- Flared metaphysis [HPO term]
- Flattened, squared-off epiphyses of tubular bones [HPO term]
- Gait disturbance [HPO term]
- Hip contracture [HPO term]
- Hip dislocation [HPO term]
- Hypoplastic pelvic bones [HPO term]
- Hypoplastic pelvis [HPO term]
- Inguinal hernia [HPO term]
- Limitation of joint mobility [HPO term]
- Low nasal bridge [HPO term]
- Lumbar kyphoscoliosis [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Platyspondyly [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Recurrent otitis media [HPO term]
- Respiratory distress [HPO term]
- Retinal detachment [HPO term]
- Round face [HPO term]
- Short neck [HPO term]
- Short trunk [HPO term]
- Splayed epiphyses [HPO term]
- Splayed epiphyses and metaphyses [HPO term]
- Tracheomalacia [HPO term]
- Umbilical hernia [HPO term]
- short, dumbbell appearance of long bones [HPO term]
ORDO concept(s)
- Kniest dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest Dysplasia [NCIt concept]
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia [MeSH concept]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [ICD-11 More detail]
- Kniest dysplasia [MedDRA Preferred Term]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [MeSH Supplementary Concept]
- kniest dysplasia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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