Keipert syndrome

Preferred Label : Keipert syndrome;

Symbol : KPTS;

CISMeF acronym : KPTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nasodigitoacoustic syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the glypican-4 gene (GPC4, 300168.0001);

Prefixed ID : #301026;

Details

Origin ID

301026;

UMLS CUI

C1850627;

Automatic exact mappings (from CISMeF team)
- GPC4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Keipert Syndrome [NCIt concept]
- Keipert syndrome [DO Concept]
- 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]
- oto-palato-digital syndrome, type ii [SNOMED Notion]
DO Cross reference
- Keipert syndrome [DO Concept]
Genes related to phenotype
- Glypican 4 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent toenail [HPO term]
- Brachydactyly [HPO term]
- Broad distal phalanx of finger [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- Clinodactyly [HPO term]
- Downturned corners of mouth [HPO term]
- Exaggerated cupid's bow [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Midface retrusion [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Sensorineural hearing impairment [HPO term]
- Thick upper lip vermilion [HPO term]
- Wide nose [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Keipert syndrome [ORDO Disease]
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 [NCIt concept]
- Keipert syndrome [ORDO Disease]
- Keipert syndrome [DO Concept]
- Keipert syndrome (disorder) [SNOMED CT concept]
- Nasodigitoacoustic syndrome [MeSH concept]
- nasodigitoacoustic syndrome [MeSH Supplementary Concept]

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