Prieto syndrome

Preferred Label : Prieto syndrome;

Symbol : PRS;

CISMeF acronym : MRXS2; PRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRXS2; Mental retardation, X-linked, syndromic 2; Mental retardation, X-linked, with dysmorphism and cerebral atrophy; Prieto X-linked mental retardation syndrome;

Inheritance : X-linked recessive;

Prefixed ID : #309610;

Détails

Origin ID

309610;

UMLS CUI

C1839730;

Automatic exact mappings (from CISMeF team)
- Diagnosis.primary [LOINC component]
- Neoplasm Polygenic Risk Score [NCIt concept]
- PGR wt Allele [NCIt concept]
- Partial Remission [NCIt concept]
- Prieto X-linked mental retardation syndrome [HGNC gene]
- Principal Diagnosis [LOINC component]
- Principal diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Progesterone Receptor [NCIt concept]
- Puerto Rico [NCIt concept]
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Prieto X-linked mental retardation syndrome [MeSH concept]
- prieto X-linked mental retardation syndrome [MeSH Supplementary Concept]
DO Cross reference
- Prieto syndrome [DO Concept]
Genes related to phenotype
- Protein kinase, lysine-deficient 3 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormality of the dentition [HPO term]
- Cerebral atrophy [HPO term]
- Clinodactyly [HPO term]
- Coxa valga [HPO term]
- Cryptorchidism [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Nystagmus [HPO term]
- Osteoporosis [HPO term]
- Patellar dislocation [HPO term]
- Patellar subluxation [HPO term]
- Prominent nose [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Retrognathia [HPO term]
- Skin dimple [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prieto X-linked mental retardation syndrome [MeSH concept]
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome [ORDO Disease]
- prieto X-linked mental retardation syndrome [MeSH Supplementary Concept]

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

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