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Gomez-Lopez-Hernandez syndrome

^ http://purl.obolibrary.org/obo/MONDO_0011157

A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. [ Orphanet:1532 ]

Term info

database cross reference
  • SCTID:722451006 (MONDO:equivalentTo)
  • OMIM:601853 (Orphanet:1532/e)
  • MESH:C537285 (MONDO:equivalentTo)
  • GARD:0000229 (MONDO:equivalentTo)
  • Orphanet:1532 (OMIM:601853)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
GLHS [ MONDO:Lexical OMIM:601853 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1532, http://identifiers.org/snomedct/722451006, https://omim.org/entry/601853, http://identifiers.org/mesh/C537285

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Cerebellotrigeminal-dermal dysplasia syndrome, Gomez-Lopez-Hernandez syndrome, craniosynostosis-alopecia-brain defect syndrome

has related synonym

Gomez-Lopez-Hernández syndrome, GLHS, Cerebellotrigeminal-dermal dysplasia, Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia, Gómez-López-Hernández syndrome, Cerebellotrigeminal dermal dysplasia, Gomez Lopez Hernandez syndrome, GOMEZ-LOPEZ-HERNANDEZ syndrome

id

MONDO:0011157

seeAlso

https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome