Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Dwarfism, Pituitary

Synonyms

Isolated Human Growth Hormone Deficiency

Definitions

A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.

ID

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

altLabel

Isolated Human Growth Hormone Deficiency

Isolated Growth Hormone Deficiency

Hypophysial Dwarf

Isolated GH Deficiency

Pituitary Nanism

Isolated HGH Deficiency

Pituitary Dwarfism

Pituitary Dwarf

Isolated Somatotropin Deficiency Disorder

Hyposomatotrophic Dwarfism

Isolated Somatotropin Deficiency

Dwarfism, Growth Hormone Deficiency

Nanism, Pituitary

Growth Hormone Deficiency Dwarfism

AQL

BL CF CI CL CN 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

C1563694

C0013338

DC

1

definition

A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.

DX

19660101

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/Q000151

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/D005877

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

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

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

http://purl.bioontology.org/ontology/MESH/D000172

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

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

http://purl.bioontology.org/ontology/MESH/D010002

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

Mapped from

http://purl.bioontology.org/ontology/MESH/C537149

http://purl.bioontology.org/ontology/MESH/C536710

http://purl.bioontology.org/ontology/MESH/C537404

http://purl.bioontology.org/ontology/MESH/C562705

http://purl.bioontology.org/ontology/MESH/C567492

http://purl.bioontology.org/ontology/MESH/C565594

http://purl.bioontology.org/ontology/MESH/C562704

http://purl.bioontology.org/ontology/MESH/C565805

http://purl.bioontology.org/ontology/MESH/C564712

http://purl.bioontology.org/ontology/MESH/C563172

http://purl.bioontology.org/ontology/MESH/C537505

MDA

19990101

MMR

20130708

MN

C19.297.312

C05.116.099.343.445

C10.228.140.617.738.300.300

C05.116.132.358

C19.700.482.311

notation

D004393

prefLabel

Dwarfism, Pituitary

TERMUI

T367409

T367407

T013401

T841777

T367408

T367410

T843591

T841779

T367406

T013402

T841774

T841778

T843590

TH

NLM (1998)

NLM (2000)

NLM (1966)

GHR (2014)

tui

T101

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D007018

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

http://purl.bioontology.org/ontology/MESH/D001849

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http://purl.bioontology.org/ontology/ICD10CM/E23.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/MTHU017678 Online Mendelian Inheritance in Man CUI