Kniest-like dysplasia, lethal

Preferred Label : Kniest-like dysplasia, lethal;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 245190;

Détails

Origin ID

245190;

UMLS CUI

C1855605;

Currated CISMeF NLP mapping
- Kniest like dysplasia lethal [MeSH concept]
- Lethal Kniest-like dysplasia [ORDO Disease]
- kniest like dysplasia lethal [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Abnormality of the pinna [HPO term]
- Arrhythmia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Breech presentation [HPO term]
- Broad ribs [HPO term]
- Broad short ribs [HPO term]
- Cleft palate [HPO term]
- Coronal cleft vertebrae [HPO term]
- Dumbbell-shaped long bone [HPO term]
- Edema [HPO term]
- Flared irregular metaphyses [HPO term]
- Flared metaphysis [HPO term]
- Flat face [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic ilia [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Lethal short-limbed short stature [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Metaphyseal irregularity [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Patent ductus arteriosus [HPO term]
- Platyspondyly [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Protuberant abdomen [HPO term]
- Relative macrocephaly [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short diaphyses [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Skeletal dysplasia [HPO term]
- Talipes equinovarus [HPO term]
- Wide anterior fontanel [HPO term]
- Wide vertebral clefts [HPO term]
ORDO concept(s)
- Lethal Kniest-like dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest like dysplasia lethal [MeSH concept]
- Lethal Kniest-like dysplasia [ORDO Disease]
- kniest like dysplasia lethal [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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