Intellectual developmental disorder, X-linked, syndromic 14

Preferred Label : Intellectual developmental disorder, X-linked, syndromic 14;

Symbol : MRXS14;

CISMeF acronym : MRXS14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 14;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the UPF3B regulator of nonsense-mediated mRNA decay gene (UPF3B, 300298.0001);

Prefixed ID : #300676;

Détails

Origin ID

300676;

UMLS CUI

C1970822;

Automatic exact mappings (from CISMeF team)
- Mental retardation, X-linked 14 [MeSH concept]
- mental retardation, X-linked 14 [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability 14 [DO Concept]
Currated CISMeF NLP mapping
- mental retardation, X-Linked, syndromic 14 [MeSH concept]
- mental retardation, X-Linked, syndromic 14 [MeSH Supplementary Concept]
DO Cross reference
- syndromic X-linked intellectual disability 14 [DO Concept]
Genes related to phenotype
- Upf3b regulator of nonsense-mediated mrna decay [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Childhood onset [HPO term]
- Chronic constipation [HPO term]
- High nasal bridge [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypernasal speech [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Kyphosis [HPO term]
- Long face [HPO term]
- Long foot [HPO term]
- Long palm [HPO term]
- Long, thin face [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Narrow chest [HPO term]
- Narrow face [HPO term]
- Nasal speech [HPO term]
- Neonatal onset [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Prominent forehead [HPO term]
- Prominent jaw [HPO term]
- Prominent nasal bridge [HPO term]
- Scoliosis [HPO term]
- Slender build [HPO term]
- Tall stature [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- FG syndrome [ORDO Disease]
- Lujan-Fryns syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked, syndromic 14 [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic 14 [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients