Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Laron Syndrome

Synonyms

Pituitary Dwarfism IIs

Definitions

An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.

ID

http://purl.bioontology.org/ontology/MESH/D046150

altLabel

Pituitary Dwarfism IIs

Growth Hormone Receptor Defect

Laron Dwarfism

Primary GH Resistance

Pituitary Dwarfism II

Laron Type Dwarfism I

GH Resistance, Primary

Primary Growth Hormone Resistance

Growth Hormone Receptor Deficiency

Growth Hormone Insensitivity Syndrome

Dwarfism IIs, Pituitary

Dwarfism II, Pituitary

Syndrome, Laron

Severe GH Insensitivity

Dwarfism, Laron

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

C0271568

DC

1

definition

An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.

DX

20050101

HN

2005

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 SIB

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

http://purl.bioontology.org/ontology/MESH/D003409

http://purl.bioontology.org/ontology/MESH/D004393

http://purl.bioontology.org/ontology/MESH/D000130

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

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

http://purl.bioontology.org/ontology/MESH/D050336

Machine permutation

2005

Mapped from

http://purl.bioontology.org/ontology/MESH/C537871

MDA

20040707

MMR

20120703

MN

C05.116.099.343.679

C16.320.240.750

C19.297.656

notation

D046150

prefLabel

Laron Syndrome

TERMUI

T548480

T570689

T570690

T548479

T548484

T812271

T548482

T824581

T548483

T548481

TH

NLM (2005)

OMIM (2013)

tui

T047

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9521 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E34.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/262500 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/262500 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/600946 Online Mendelian Inheritance in Man CUI