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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
  • MESH:C537761 (MONDO:equivalentTo)
  • SCTID:699669001 (MONDO:equivalentTo)
  • OMIM:309500 (Orphanet:3242/e)
  • Orphanet:3242 (OMIM:309500)
  • MEDGEN:208670 (MONDO:equivalentTo)
  • UMLS:C0796135 (MONDO:equivalentTo)
  • icd11.foundation:1415315699 (MONDO:equivalentTo)
  • NCIT:C165533 (MONDO:equivalentTo)
  • DOID:0060179 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • GARD:9509 (MONDO:GARD)
Subsets

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_psychiatric_disorder, matrix_included, clingen, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease

A synonym that is historic and discouraged
mental retardation, X-linked, with spastic diplegia

A synonym that is historic and discouraged
X-linked mental retardation Renpenning type [ DOID:0060179 ]

abbreviation
MRXS8 [ GARD:0009509 ]

A synonym that is historic and discouraged
syndromic X-linked mental retardation 8 [ DOID:0060179 ]

A synonym that is historic and discouraged
mental retardation, X-linked, Renpenning type

ClinGen label
Renpenning syndrome [ icd11.foundation:1415315699 Orphanet:3242 DOID:0060179 NCIT:C165533 ]

A synonym that is historic and discouraged
X-linked mental retardation syndromic 3 [ GARD:0009509 ]

A synonym that is historic and discouraged
mental retardation, X-linked 55

A synonym that is historic and discouraged
mental retardation, X-linked Renpenning type [ GARD:0009509 ]

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic 8

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic 3

A synonym that is historic and discouraged
X-linked mental retardation with spastic diplegia [ DOID:0060179 ]

A synonym that is historic and discouraged
Sutherland-Haan X-linked mental retardation syndrome [ DOID:0060179 https://omim.org/entry/309500 ]

abbreviation
MRXS3 [ GARD:0009509 ]

abbreviation
RENS1 [ MONDO:Lexical ]

curated content resource

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

exactMatch

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

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

http://identifiers.org/medgen/208670

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://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1415315699

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

mental retardation, X-linked, syndromic 3

RENS1

Renpenning syndrome 1

intellectual disability, X-linked, with spastic diplegia

mental retardation, X-linked, with spastic diplegia

id

MONDO:0010653

term tracker item

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

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