Terminology Service for NFDI4Health
JSON

Genetic Diseases, Inborn

Go to external page http://purl.bioontology.org/ontology/MESH/D030342

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.

Diseases caused by genetic mutations that are inherited from a parent's genome.

Term info

Label

Genetic Diseases, Inborn

Synonyms
  • Defect, Single-Gene
  • Defects, Single-Gene
  • Disease, Genetic
  • Disease, Hereditary
  • Disease, Inborn Genetic
  • Diseases, Genetic
  • Diseases, Hereditary
  • Diseases, Inborn Genetic
  • Disorder, Genetic
  • Disorders, Genetic
  • Erbkrankheiten (DE)
  • Genetic Disease
  • Genetic Disease, Inborn
  • Genetic Diseases
  • Genetic Disorder
  • Genetic Disorders
  • Genetische Krankheiten, angeborene (DE)
  • Hereditary Disease
  • Hereditary Diseases
  • Hereditäre Krankheiten (DE)
  • Inborn Genetic Disease
  • Inborn Genetic Diseases
  • Single Gene Defects
  • Single-Gene Defect
  • Single-Gene Defects
AN

general; prefer /genet with specific diseases

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

DC

1

DX

20020101

FX

D005826

HN

2002

MDA

20010725

MMR

20160609

MN

C16.320

PM

2002; for HEREDITARY DISEASES see HEREDITARY DISEASES 1968-2001

QB

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/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/Q000134, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, 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/Q000662, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, 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

RO

http://purl.bioontology.org/ontology/MESH/D005826

SIB

http://purl.bioontology.org/ontology/MESH/D000013, http://purl.bioontology.org/ontology/MESH/D007232, http://purl.bioontology.org/ontology/MESH/D005315

TERMUI

T444712, T000898784, T019715, T000898783, T019716, T446732, T019718

TH

NLM (2017), POPLINE (1978), UNK (19XX), NLM (2002)

cui

C0037176, C0950123, C0019247

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C562738, http://purl.bioontology.org/ontology/MESH/C562707, http://purl.bioontology.org/ontology/MESH/C562717, http://purl.bioontology.org/ontology/MESH/C562711, http://purl.bioontology.org/ontology/MESH/C562405, http://purl.bioontology.org/ontology/MESH/C562856, http://purl.bioontology.org/ontology/MESH/C562378, http://purl.bioontology.org/ontology/MESH/C562751, http://purl.bioontology.org/ontology/MESH/C565963, http://purl.bioontology.org/ontology/MESH/C563984, http://purl.bioontology.org/ontology/MESH/C566821, http://purl.bioontology.org/ontology/MESH/C564245, http://purl.bioontology.org/ontology/MESH/C564320, http://purl.bioontology.org/ontology/MESH/C566343, http://purl.bioontology.org/ontology/MESH/C566123, http://purl.bioontology.org/ontology/MESH/C572568, http://purl.bioontology.org/ontology/MESH/C565141, http://purl.bioontology.org/ontology/MESH/C565152, http://purl.bioontology.org/ontology/MESH/C562470, http://purl.bioontology.org/ontology/MESH/C562708

tui

T047