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Renpenning syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010653

An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature. [ Orphanet:3242 ]

Synonyms: Golabi-Ito-Hall syndrome Renpenning syndrome type 1 syndromic X-linked intellectual disability 8 X-linked intellectual disability Renpenning type Sutherland-Haan X-linked mental retardation syndrome Renpenning syndrome renpenning syndrome, X-linked recessive Sutherland-Haan X-linked intellectual disability syndrome X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8 X-linked intellectual disability with spastic diplegia X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C165533 (MONDO:equivalentTo)
  • GARD:9509 (Orphanet:3242)
  • MESH:C537761 (MONDO:equivalentTo)
  • SCTID:699669001 (MONDO:equivalentTo)
  • UMLS:C0796135 (OMIM:309500)
  • OMIM:309500 (Orphanet:3242/e)
  • Orphanet:3242 (OMIM:309500)
  • DOID:0060179 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, orphanet_rare, clingen

IAO 0000233

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

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_3242

http://purl.obolibrary.org/obo/DOID_0060179

http://purl.obolibrary.org/obo/NCIT_C165533

http://linkedlifedata.com/resource/umls/id/C0796135

https://omim.org/entry/309500

http://identifiers.org/snomedct/699669001

http://identifiers.org/mesh/C537761

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015159

http://purl.obolibrary.org/obo/MONDO_0015246

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

has related synonym

intellectual disability, X-linked Renpenning type

intellectual disability, X-linked 55

mental retardation, X-linked, Renpenning type

mental retardation, X-linked, syndromic 8

X-linked intellectual disability syndromic 3

X-linked mental retardation syndromic 3

intellectual disability, X-linked, syndromic 3

mental retardation, X-linked Renpenning type

MRXS3

Sutherland-Haan syndrome

intellectual disability, X-linked, syndromic 8

mental retardation, X-linked 55

intellectual disability, X-linked, Renpenning type

MRXS8

RENS1

mental retardation, X-linked, syndromic 3

Renpenning syndrome 1

intellectual disability, X-linked, with spastic diplegia

mental retardation, X-linked, with spastic diplegia

id

MONDO:0010653

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010653

Term relations