Medical Subject Headings

Last uploaded: August 27, 2019
Preferred Name

Donohue Syndrome

Synonyms

Mendenhall Syndrome

Definitions

Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms.

ID

http://purl.bioontology.org/ontology/MESH/D056731

altLabel

Mendenhall Syndrome

Rabson Mendenhall Syndrome

Rabson-Mendenhall Syndrome

Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities

Leprechaunism

Leprechaunisms

Syndrome, Mendenhall

Syndrome, Rabson-Mendenhall

Syndrome, Donohue

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0271695

C0265344

DC

1

definition

Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms.

Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.

DX

20100101

FX

D007333

D011972

HN

2010

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D011972

http://purl.bioontology.org/ontology/MESH/D007333

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D010985

http://purl.bioontology.org/ontology/MESH/D000745

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D020294

http://purl.bioontology.org/ontology/MESH/D016640

http://purl.bioontology.org/ontology/MESH/D058631

http://purl.bioontology.org/ontology/MESH/D056732

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D010004

http://purl.bioontology.org/ontology/MESH/D011236

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D016878

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D053306

http://purl.bioontology.org/ontology/MESH/D056733

http://purl.bioontology.org/ontology/MESH/D058497

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D050174

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D010381

http://purl.bioontology.org/ontology/MESH/D000071698

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D031845

http://purl.bioontology.org/ontology/MESH/D004476

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D050010

http://purl.bioontology.org/ontology/MESH/D004314

http://purl.bioontology.org/ontology/MESH/D058495

http://purl.bioontology.org/ontology/MESH/D019082

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D019767

http://purl.bioontology.org/ontology/MESH/D048909

http://purl.bioontology.org/ontology/MESH/D017204

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D065768

http://purl.bioontology.org/ontology/MESH/D000699

http://purl.bioontology.org/ontology/MESH/D016715

http://purl.bioontology.org/ontology/MESH/D009634

http://purl.bioontology.org/ontology/MESH/D009136

http://purl.bioontology.org/ontology/MESH/D000077428

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D000071070

http://purl.bioontology.org/ontology/MESH/D019280

http://purl.bioontology.org/ontology/MESH/D002636

http://purl.bioontology.org/ontology/MESH/D056660

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D007849

http://purl.bioontology.org/ontology/MESH/D054179

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056770

http://purl.bioontology.org/ontology/MESH/D054975

http://purl.bioontology.org/ontology/MESH/D059041

http://purl.bioontology.org/ontology/MESH/D003924

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D053840

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D010013

http://purl.bioontology.org/ontology/MESH/D015211

http://purl.bioontology.org/ontology/MESH/D058502

http://purl.bioontology.org/ontology/MESH/D003398

http://purl.bioontology.org/ontology/MESH/D058496

http://purl.bioontology.org/ontology/MESH/D056735

http://purl.bioontology.org/ontology/MESH/D008661

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D052159

http://purl.bioontology.org/ontology/MESH/D003922

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D008831

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D029502

http://purl.bioontology.org/ontology/MESH/D007619

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D001506

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D049970

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006453

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D002973

http://purl.bioontology.org/ontology/MESH/D005736

http://purl.bioontology.org/ontology/MESH/D016142

http://purl.bioontology.org/ontology/MESH/D007184

http://purl.bioontology.org/ontology/MESH/D024741

http://purl.bioontology.org/ontology/MESH/D056684

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D019896

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D003635

http://purl.bioontology.org/ontology/MESH/D054463

http://purl.bioontology.org/ontology/MESH/D011218

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D054877

http://purl.bioontology.org/ontology/MESH/D012873

http://purl.bioontology.org/ontology/MESH/D058627

http://purl.bioontology.org/ontology/MESH/D011535

http://purl.bioontology.org/ontology/MESH/D056734

http://purl.bioontology.org/ontology/MESH/D003394

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D003921

http://purl.bioontology.org/ontology/MESH/D012410

http://purl.bioontology.org/ontology/MESH/D003410

http://purl.bioontology.org/ontology/MESH/D016883

http://purl.bioontology.org/ontology/MESH/D000312

http://purl.bioontology.org/ontology/MESH/D012415

http://purl.bioontology.org/ontology/MESH/D008382

Machine permutation

2010

Mapped from

http://purl.bioontology.org/ontology/MESH/C562709

MDA

20090706

MMR

20120703

MN

C18.452.394.750.654

C16.131.077.313

C05.660.207.325

C19.246.537

C16.320.215

notation

D056731

prefLabel

Donohue Syndrome

TERMUI

T734000

T734002

T733998

T733999

T812274

TH

NLM (2010)

ORD (2010)

OMIM (2013)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D019465

http://purl.bioontology.org/ontology/MESH/D030342

http://purl.bioontology.org/ontology/MESH/D003920

http://purl.bioontology.org/ontology/MESH/D000015

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Donohue_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000181087 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X40JX RCD CUI
http://purl.bioontology.org/ontology/OMIM/246200 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/246200 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/111307005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.215 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009517 MONDO LOOM
http://purl.jp/bio/4/id/200906014490744336 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 NCIT LOOM
http://purl.bioontology.org/ontology/SCTSPA/111307005 SCTSPA CUI
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050470 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/33559001 SNOMEDCT CUI
http://purl.obolibrary.org/obo/DOID_0050470 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050470 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 NIFSTD LOOM
http://purl.bioontology.org/ontology/OMIM/262190 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.325 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01224 SNMI CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.246.537 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.313 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.394.750.654 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056731 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D056731 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D056731 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/C1zy3 RCD CUI
http://purl.bioontology.org/ontology/SNMI/DB-61780 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/147670 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/147670 OMIM CUI
http://purl.bioontology.org/ontology/CSP/0862-7250 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/33559001 SCTSPA CUI