Gms syndrome - CISMeF

Preferred Label : Gms syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Goniodysgenesis--mental retardation--short stature syndrome;

Description : Kupchik et al. (1990, 1992) described a mother and infant daughter with goniodysgenesis (Rieger malformation), mental retardation and short stature. They also showed small ears, microcephaly, short nose with depressed nasal bridge, and small hands. This was considered to be different from the SHORT syndrome (269880), the Rieger syndrome (180500), and other previously described disorders. The Rieger changes in the anterior chamber of the eye consisted of iris hypoplasia, a prominent Schwalbe line, and iris adhesions that attached to the Schwalbe line. *FIELD* RF 1. Kupchik, G. S.; Ludman, M. D.; Gilbert, F.: GMS syndrome: a new dominant disorder with goniodysgenesis, mental retardation and short stature. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A64 only, 1990. 2. Kupchik, G. S.; Ludman, M. D.; Raab, E. L.; Gilbert, F.: GMS syndrome: a new dominant condition with goniodysgenesis, mental retardation, and short stature. Am. J. Med. Genet. 42: 1-4, 1992. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 138770;

Details

Origin ID

138770;

UMLS CUI

C1841854;

Automatic exact mappings (from CISMeF team)
- Goniodysgenesis with intellectual disability and short stature syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- GMS syndrome [ORDO Disease]
- Goniodysgenesis-Mental Retardation-Short stature syndrome [MeSH concept]
- Goniodysgenesis-Mental Retardation-Short stature syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flattened nasal bridge [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Preauricular pit [HPO term]
- Proportionate short stature [HPO term]
- Rieger anomaly [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short philtrum [HPO term]
- Short stature, proportionate [HPO term]
- Small hand [HPO term]
- Tricuspid regurgitation [HPO term]
ORDO concept(s)
- GMS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GMS syndrome [ORDO Disease]
- Goniodysgenesis with intellectual disability and short stature syndrome (disorder) [SNOMED CT concept]
- Goniodysgenesis-Mental Retardation-Short stature syndrome [MeSH Supplementary Concept]
- Goniodysgenesis-Mental Retardation-Short stature syndrome [MeSH concept]

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