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HSD10 mitochondrial disease

^ http://purl.obolibrary.org/obo/MONDO_0010327

A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. [ Orphanet:391417 ]

Term info

database cross reference
  • OMIM:300220 (Orphanet:85295/e)
  • OMIM:300438 (Orphanet:85295)
  • UMLS:CN204973 (MONDO:equivalentTo)
  • Orphanet:85295 (OMIM:300220)
  • MESH:C564560 (MONDO:equivalentTo)
  • SCTID:791000124107 (MONDO:equivalentTo)
  • Orphanet:391417 (OMIM:300438)
  • DOID:0060810 (MONDO:equivalentTo)
  • UMLS:C1846168 (OMIM:300220)
  • GARD:0010716 (MONDO:equivalentTo)
  • MESH:C536080 (MONDO:equivalentTo)
Subsets

ordo_disease, ordo_clinical_subtype

A synonym that is historic and discouraged
chorioathetosis with mental retardation and abnormal behavior [ OMIM:300220 ]

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic 10 [ MONDO:Lexical OMIM:300220 ]

A synonym that is historic and discouraged
mental retardation with chorioathetosis and abnormal behavior [ OMIM:300220 ]

abbreviation
2M3HBA [ GARD:0010716 ]

A synonym that is historic and discouraged
MRXS10 [ OMIM:300220 MONDO:Lexical DOID:0060810 ]

A synonym that is historic and discouraged
mental retardation, X-linked syndromic 10 [ DOID:0060810 ]

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic type 10 [ OMIM:300220 MONDORULE:2 ]

abbreviation
HSD10MD [ OMIM:300438 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.

exactMatch

http://identifiers.org/mesh/C536080, http://identifiers.org/mesh/C564560, http://identifiers.org/snomedct/791000124107, http://purl.obolibrary.org/obo/DOID_0060810, https://omim.org/entry/300438, http://linkedlifedata.com/resource/umls/id/CN204973, http://purl.obolibrary.org/obo/Orphanet_391417

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020119

has exact synonym

mental retardation, X-linked, syndromic type 10, MHBD deficiency, mental retardation with chorioathetosis and abnormal behavior, HSD17B10 deficiency, MRXS10, 17-beta-hydroxysteroid dehydrogenase 10 deficiency, chorioathetosis with mental retardation and abnormal behavior, 3-hydroxyacyl-CoA dehydrogenase 2 deficiency, HSD10 mitochondrial disease, 2-methyl-3-hydroxybutyric aciduria, mental retardation, X-linked syndromic 10, HSD10MD, HSD10 deficiency, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, HSD10 mitochondrial disease, X-linked dominant, mental retardation, X-linked, syndromic 10, 17-beta-hydroxysteroid dehydrogenase X deficiency

has narrow synonym

X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome, syndromic X-linked intellectual disability type 10, HSD10 deficiency, atypical type

has related synonym

17 beta-hydroxysteroid dehydrogenase type 10 deficiency, 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency, 2M3HBA, hydroxyacyl-CoA dehydrogenase II deficiency, 3H2MBD deficiency

id

MONDO:0010327

Term relations