Galloway-mowat syndrome 3

Preferred Label : Galloway-mowat syndrome 3;

Symbol : GAMOS3;

CISMeF acronym : GAMOS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the O-sialoglycoprotein endopeptidase gene (OSGEP, 610107.0001);

Laboratory abnormalities : Hypoalbuminemia; Proteinuria;

Prefixed ID : #617729;

Détails

Origin ID

617729;

UMLS CUI

C4540266;

Currated CISMeF NLP mapping
- Galloway-Mowat syndrome 3 [DO Concept]
DO Cross reference
- Galloway-Mowat syndrome 3 [DO Concept]
Genes related to phenotype
- O-sialoglycoprotein endopeptidase [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Glomerular sclerosis [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Lissencephaly [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Nephrotic syndrome [HPO term]
- Oligohydramnios [HPO term]
- Pachygyria [HPO term]
- Proteinuria [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Spasticity [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Galloway-Mowat syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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