Goldberg-shprintzen syndrome

Preferred Label : Goldberg-shprintzen syndrome;

Symbol : GOSHS;

CISMeF acronym : GOSHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Goldberg-shprintzen megacolon syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the KIAA1279 gene (KIAA1279, 609367.0001);

Prefixed ID : #609460;

Details

Origin ID

609460;

UMLS CUI

C1836123;

Automatic exact mappings (from CISMeF team)
- Goldberg-Shprintzen megacolon syndrome [ICD-11 More detail]
- Shprintzen Golberg craniosynostosis [MeSH concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]
CISMeF manual mappings
- Goldberg Shprintzen megacolon syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Goldberg-Shprintzen megacolon syndrome [MeSH concept]
- Goldberg-Shprintzen megacolon syndrome [MeSH Supplementary Concept]
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
- Goldberg-Shprintzen syndrome [DO Concept]
DO Cross reference
- Goldberg-Shprintzen syndrome [DO Concept]
Genes related to phenotype
- Kinesin family binding protein [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Corneal erosion [HPO term]
- Corneal ulceration [HPO term]
- Downslanted palpebral fissures [HPO term]
- Everted lower lip vermilion [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High-arched, dense eyebrows [HPO term]
- Highly arched eyebrow [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Megalocornea [HPO term]
- Microcephaly [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Small hand [HPO term]
- Sparse hair [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
See also inter- (CISMeF)
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Goldberg Shprintzen megacolon syndrome (disorder) [SNOMED CT concept]
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
- Goldberg-Shprintzen megacolon syndrome [MeSH Supplementary Concept]
- Goldberg-Shprintzen megacolon syndrome [MeSH concept]
- Goldberg-Shprintzen syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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