Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Donohue Syndrome

Synonyms

Syndrome, Mendenhall

Definitions

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.

ID

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

altLabel

Syndrome, Mendenhall

Leprechaunisms

Rabson Mendenhall Syndrome

Syndrome, Rabson-Mendenhall

Mendenhall Syndrome

Leprechaunism

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

Syndrome, Donohue

Rabson-Mendenhall Syndrome

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 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.

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.

DX

20100101

FX

D011972

D007333

HN

2010

Inverse of AQ

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Inverse of RO

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

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

Machine permutation

2010

Mapped from

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

MDA

20090706

MMR

20120703

MN

C16.320.215

C18.452.394.750.654

C19.246.537

C05.660.207.325

C16.131.077.313

notation

D056731

prefLabel

Donohue Syndrome

TERMUI

T812274

T734002

T733999

T734000

T733998

TH

OMIM (2013)

NLM (2010)

ORD (2010)

tui

T047

subClassOf

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

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

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

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

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http://purl.bioontology.org/ontology/MSHFRE/D056731 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D056731 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/147670 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10088742 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40JX RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10088742 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/DB-61780 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10088742 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0862-7250 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/262190 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/33559001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/33559001 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111307005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10081896 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10081896 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181087 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/147670 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10081903 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/C1zy3 RCD CUI
http://purl.bioontology.org/ontology/OMIM/246200 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10081903 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10081896 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01224 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10081903 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/111307005 SCTSPA CUI
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http://purl.obolibrary.org/obo/DOID_0050470 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.325 RH-MESH LOOM
urn:agi-folder:donohue_syndrome BPT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081896 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.246.537 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056731 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039952 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/OMIM/246200 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.394.750.654 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009517 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009517 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009517 DOVES LOOM
http://purl.obolibrary.org/obo/OMIT_0026700 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.215 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.313 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84676 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Donohue_Syndrome CSEO LOOM
http://purl.jp/bio/4/id/200906014490744336 IOBC LOOM