Genetic Condition
[general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component. ( CSP )]
UMLS (NCI) C0019247- Disease or Syndrome
Relation/PAR: Disease
Neonatal Diseases and Abnormalities
Neonatal Diseases and Abnormalities
Relation/CHD: achondroplasia
afibrinogenemia
ataxia telangiectasia
Christmas disease
Chromosomal anomalies
craniofacial dysostosis
chalastodermia
Dysautonomia, Familial
cutis elastica
Elliptocytosis, Hereditary
acantholysis bullosa
family ataxia
dystrophia epithelialis corneae
Hemoglobinopathies
CONG FACTOR VIII DIORD
Cerebroretinal Angiomatosis
HD
Factor II Deficiency
congenital ichthyosis
Darier's disease
polycystic kidney
Marfan syndrome
Congenital Metabolic Disorder
HERED PROG MUSC DYSTRPHY
myotonia congenita
MEA
nephroblastoma
brittle bone disease
pseudoxanthoma elasticum
retinitis pigmentosa
Neuroblastoma of Retina
cerebroatrophic hyperammonemia
hereditary spherocytosis
Bourneville's disease
vascular hemophilia
van der Hoeve Halbertsona Waardenburg syndrome
Adult Progeria
Aldrich syndrome
Angioma Pigmentosum Atrophicum
cerebrohepatorenal syndrome
Alagille syndrome
Li Fraumeni syndrome
adrenoleukodystrophy
congenital erythropoietic porphyria
EPP (erythropoietic protoporphyria porphyria)
Angelman syndrome
neurofibromatoses
acrodermatitis enteropathica
Holt Oram syndrome
Usher syndrome
familial hypothyroidism
hereditary peripheral nervous system disorder
testicular feminization
Alport syndrome
Pain Insensitivity, Congenital
Familiar Neoplastic Syndrome
Adult Progeria
enzyme deficiency
Heredodegenerative Disorders, Nervous System
afibrinogenemia
ataxia telangiectasia
Christmas disease
Chromosomal anomalies
craniofacial dysostosis
chalastodermia
Dysautonomia, Familial
cutis elastica
Elliptocytosis, Hereditary
acantholysis bullosa
family ataxia
dystrophia epithelialis corneae
Hemoglobinopathies
CONG FACTOR VIII DIORD
Cerebroretinal Angiomatosis
HD
Factor II Deficiency
congenital ichthyosis
Darier's disease
polycystic kidney
Marfan syndrome
Congenital Metabolic Disorder
HERED PROG MUSC DYSTRPHY
myotonia congenita
MEA
nephroblastoma
brittle bone disease
pseudoxanthoma elasticum
retinitis pigmentosa
Neuroblastoma of Retina
cerebroatrophic hyperammonemia
hereditary spherocytosis
Bourneville's disease
vascular hemophilia
van der Hoeve Halbertsona Waardenburg syndrome
Adult Progeria
Aldrich syndrome
Angioma Pigmentosum Atrophicum
cerebrohepatorenal syndrome
Alagille syndrome
Li Fraumeni syndrome
adrenoleukodystrophy
congenital erythropoietic porphyria
EPP (erythropoietic protoporphyria porphyria)
Angelman syndrome
neurofibromatoses
acrodermatitis enteropathica
Holt Oram syndrome
Usher syndrome
familial hypothyroidism
hereditary peripheral nervous system disorder
testicular feminization
Alport syndrome
Pain Insensitivity, Congenital
Familiar Neoplastic Syndrome
Adult Progeria
enzyme deficiency
Heredodegenerative Disorders, Nervous System
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