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.
Instance info
Growth Hormone Deficiency Dwarfism, Pituitary Dwarf, Pituitary Dwarfism, Dwarfism, Growth Hormone Deficiency, Zwergwuchs durch Wachstumshormonmangel (DE), Hypophysärer Zwerg (DE), Nanismus, hypophysärer (DE), Hyposomatotropher Zwergwuchs (DE), Isolated Growth Hormone Deficiency, Hypophysärer Zwergwuchs (DE), Isolated GH Deficiency, Zwergwuchs, hypophysärer (DE), Isolated Somatotropin Deficiency Disorder, Hyposomatotrophic Dwarfism, Isolated Human Growth Hormone Deficiency, Pituitärer Zwergwuchs (DE), Isolated HGH Deficiency, Hypophysial Dwarf, Isolated Somatotropin Deficiency, Pituitary Nanism, Nanism, Pituitary, Pituitärer Zwerg (DE)
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
1
19660101
19990101
20130708
C19.297.312,C05.116.099.343.445,C19.700.482.311,C05.116.132.358,C10.228.140.617.738.300.300
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/D010002,http://purl.bioontology.org/ontology/MESH/D050336,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D000130,http://purl.bioontology.org/ontology/MESH/D000172,http://purl.bioontology.org/ontology/MESH/D003409,http://purl.bioontology.org/ontology/MESH/D046150,http://purl.bioontology.org/ontology/MESH/D005877
T843591,T013402,T843590,T013401,T841779,T367410,T841777,T367409,T841778,T367408,T841774,T367407,T367406
GHR (2014),NLM (1966),NLM (2000),NLM (1998)
C1563694,C0013338
http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T101
http://purl.bioontology.org/ontology/MESH/C562705,http://purl.bioontology.org/ontology/MESH/C565594,http://purl.bioontology.org/ontology/MESH/C562704,http://purl.bioontology.org/ontology/MESH/C563172,http://purl.bioontology.org/ontology/MESH/C537404,http://purl.bioontology.org/ontology/MESH/C565805,http://purl.bioontology.org/ontology/MESH/C536710,http://purl.bioontology.org/ontology/MESH/C537505,http://purl.bioontology.org/ontology/MESH/C567492,http://purl.bioontology.org/ontology/MESH/C564712,http://purl.bioontology.org/ontology/MESH/C537149
T101,T047