Keipert Syndrome

Preferred Label : Keipert Syndrome;

NCIt synonyms : KPTS;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the GPC4 gene, encoding glypican-4. It is characterized by multiple congenital abnormalities, including distinctive facial dysmorphism, sensorineural hearing loss, variable learning difficulties, and digital anomalies.;

Details

Origin ID

C186306;

UMLS CUI

C1850627;

Currated CISMeF NLP mapping
- Keipert syndrome [DO Concept]
- Keipert syndrome [OMIM Phenotype]
- Keipert syndrome [ORDO Disease]
- Keipert syndrome (disorder) [SNOMED CT concept]
- Nasodigitoacoustic syndrome [MeSH concept]
- Oto-palato-digital syndrome, type II (disorder) [SNOMED CT concept]
- nasodigitoacoustic syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- oto-palato-digital syndrome, type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keipert syndrome [OMIM Phenotype]
- Keipert syndrome [DO Concept]
- Keipert syndrome (disorder) [SNOMED CT concept]
- Nasodigitoacoustic syndrome [OMIM Phenotype]
- Nasodigitoacoustic syndrome [MeSH concept]
- nasodigitoacoustic syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GPC4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

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