Lin-getting syndrome

Preferred Label : Lin-getting syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Craniosynostosis-mental retardation syndrome of lin and gettig;

Inheritance : Autosomal recessive;

Prefixed ID : 218649;

Détails

Origin ID

218649;

UMLS CUI

C1857473;

Currated CISMeF NLP mapping
- Craniosynostosis-Mental retardation syndrome of lin and gettig [MeSH concept]
- Craniosynostosis-Mental retardation syndrome of lin and gettig [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Ambiguous genitalia, male [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly [HPO term]
- Chiari type I malformation [HPO term]
- Cleft palate [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Decreased palmar creases [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Glabellar hemangioma [HPO term]
- Hand clenching [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypoplastic philtrum [HPO term]
- Hypospadias [HPO term]
- Hypotelorism [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Intestinal malrotation [HPO term]
- Joint contracture of the hand [HPO term]
- Long philtrum [HPO term]
- Long, hypoplastic philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Mild micrognathia [HPO term]
- Multiple joint contractures [HPO term]
- Multiple small bowel atresias [HPO term]
- Narrow chest [HPO term]
- Omphalocele [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short columella [HPO term]
- Short nose [HPO term]
- Slender finger [HPO term]
- Smooth philtrum [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Trigonocephaly [HPO term]
- Turricephaly [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide intermamillary distance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniosynostosis-Mental retardation syndrome of lin and gettig [MeSH Supplementary Concept]
- Craniosynostosis-Mental retardation syndrome of lin and gettig [MeSH concept]
- Lin-Gettig syndrome [PASCAL descriptor]

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

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