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Gomez-Lopez-Hernandez syndrome

Go to external page 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 behavior and bipolar disorder have also been reported. [ Orphanet:1532 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537285 (MONDO:equivalentTo)
  • OMIM:601853 (Orphanet:1532/e)
  • SCTID:722451006 (MONDO:equivalentTo)
  • UMLS:C0795959 (MONDO:equivalentTo)
  • Orphanet:1532 (OMIM:601853)
  • GARD:229 (MONDO:GARD)
  • MEDGEN:163201 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/snomedct/722451006

https://omim.org/entry/601853

http://identifiers.org/medgen/163201

http://identifiers.org/mesh/C537285

http://linkedlifedata.com/resource/umls/id/C0795959

http://www.orpha.net/ORDO/Orphanet_1532

excluded subClassOf

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

has related synonym

GLHS

Gomez-Lopez-Hernández syndrome

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

term tracker item

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