Peters-plus syndrome

Preferred Label : Peters-plus syndrome;

Symbol : PTRPLS;

CISMeF acronym : PTRPLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Peters anomaly with short-limb dwarfism; Krause-kivlin syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta 3-glucosyltransferase gene (B3GLCT, 610308.0001);

Prefixed ID : #261540;

Détails

Origin ID

261540;

UMLS CUI

C0796012;

Automatic exact mappings (from CISMeF team)
- rieger eye malformation sequence [SNOMED Notion]
Currated CISMeF NLP mapping
- Krause-Kivlin syndrome [MeSH Supplementary Concept]
- Krause-Kivlin syndrome [MeSH concept]
- Peters plus syndrome [DO Concept]
- Peters plus syndrome [ORDO Disease]
- Peters plus syndrome (disorder) [SNOMED CT concept]
- Peters-Plus Syndrome [NCIt concept]
- Peters-plus syndrome [Disease (Nov.)]
- Peters-plus syndrome [ICD-11 More detail]
DO Cross reference
- Peters plus syndrome [DO Concept]
Genes related to phenotype
- Beta-3-glucosyltransferase [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Agenesis of maxillary lateral incisor [HPO term]
- Anteriorly placed anus [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biliary tract abnormality [HPO term]
- Bilobate gallbladder [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Broad neck [HPO term]
- Broad palm [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypoplasia [HPO term]
- Conical incisor [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Diastasis recti [HPO term]
- Disproportionate short-limb dwarfism [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Exaggerated cupid's bow [HPO term]
- Facial hypertrichosis [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hemivertebrae [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypoplasia of the vagina [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypospadias [HPO term]
- Intellectual disability, progressive [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Joint laxity [HPO term]
- Limited elbow movement [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia, second degree [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Peters anomaly [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Preauricular pit [HPO term]
- Prominent ears [HPO term]
- Prominent forehead [HPO term]
- Protruding ear [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Renal hypoplasia [HPO term]
- Retinal coloboma [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short lingual frenulum [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short palm [HPO term]
- Short toe [HPO term]
- Single transverse palmar crease [HPO term]
- Square pelvis bone [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Syndactyly [HPO term]
- Thin upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ureteral duplication [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Webbed neck [HPO term]
- Wide anterior fontanel [HPO term]
- Wide intermamillary distance [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Peters plus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Krause-Kivlin syndrome [MeSH Supplementary Concept]
- Krause-Kivlin syndrome [MeSH concept]
- Peters plus syndrome [ORDO Disease]
- Peters plus syndrome [DO Concept]
- Peters plus syndrome (disorder) [SNOMED CT concept]
- Peters-Plus Syndrome [NCIt concept]
- Peters-plus syndrome [Disease (Nov.)]
- Peters-plus syndrome [ICD-11 More detail]

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

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