Multiple pterygium syndrome, lethal type

Preferred Label : Multiple pterygium syndrome, lethal type;

Symbol : LMPS;

CISMeF acronym : LMPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pterygium syndrome, multiple, lethal type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (CHRNG, 100730.0002); Caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, 100720.0005); Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1, muscle gene (CHRNA1, 100690.0013);

Prefixed ID : #253290;

Détails

Origin ID

253290;

UMLS CUI

C1854678;

Automatic exact mappings (from CISMeF team)
- Last Menstrual Period [NCIt concept]
Currated CISMeF NLP mapping
- Lethal Multiple Pterygium Syndrome [NCIt concept]
- Lethal multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome lethal type [MeSH concept]
DO Cross reference
- multiple pterygium syndrome [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, alpha polypeptide 1 [OMIM gene]
- Cholinergic receptor, nicotinic, delta polypeptide [OMIM gene]
- Cholinergic receptor, nicotinic, gamma polypeptide [OMIM gene]
HPO term(s)
- Abnormal cervical curvature [HPO term]
- Abnormal facial shape [HPO term]
- Akinesia [HPO term]
- Amyoplasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Cystic hygroma [HPO term]
- Depressed nasal ridge [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Fetal akinesia sequence [HPO term]
- Flexion contracture [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic heart [HPO term]
- Increased susceptibility to fractures [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint dislocation [HPO term]
- Low-set ears [HPO term]
- Malignant hyperthermia [HPO term]
- Microbrachydactyly [HPO term]
- Micrognathia [HPO term]
- Multiple pterygia [HPO term]
- Polyhydramnios [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short finger [HPO term]
- Thin ribs [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Lethal multiple pterygium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal Multiple Pterygium Syndrome [NCIt concept]
- Lethal multiple pterygium syndrome [ORDO Disease]
- Lethal multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome lethal type [MeSH concept]
- lethal multiple pterygium syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- multiple pterygium syndrome [MeSH Supplementary Concept]

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

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