Gomez-lopez-hernandez syndrome

Preferred Label : Gomez-lopez-hernandez syndrome;

Symbol : GLHS;

CISMeF acronym : GLHS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cerebello-trigeminal-dermal dysplasia; Cerebellotrigeminal dermal dysplasia;

Description : Cerebellotrigeminal dermal dysplasia, also known as Gomez-Lopez-Hernandez (GLH) syndrome, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia, However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010).;

Inheritance : Isolated cases;

Prefixed ID : %601853;

Détails

Origin ID

601853;

UMLS CUI

C0795959;

Automatic exact mappings (from CISMeF team)
- Gomez Lopez Hernandez syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Gómez-López-Hernández syndrome [ORDO Disease]
- gomez lopez hernandez syndrome [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Agenesis or hypogenesis of the cerebellar vermis [HPO term]
- Alopecia [HPO term]
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Bipolar affective disorder [HPO term]
- Brachycephaly [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cognitive impairment [HPO term]
- Corneal opacity [HPO term]
- Craniosynostosis [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Depression [HPO term]
- Downslanted palpebral fissures [HPO term]
- Fusion of the cerebellar hemispheres [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Isolated cases [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Opacification of the corneal stroma [HPO term]
- Posteriorly rotated ears [HPO term]
- Rhombencephalosynapsis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Skull asymmetry [HPO term]
- Smooth philtrum [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Trigeminal anesthesia [HPO term]
- Turricephaly [HPO term]
- Wide anterior fontanel [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Gómez-López-Hernández syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gomez Lopez Hernandez syndrome [MeSH concept]
- Gomez Lopez Hernandez syndrome (disorder) [SNOMED CT concept]
- Gómez-López-Hernández syndrome [ORDO Disease]
- gomez lopez hernandez syndrome [MeSH Supplementary Concept]

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