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Academic database
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997
GeneReviews
Psychological phenomenon
Classification D ICD-9-CM: 315.8 External resources MedlinePlus: 001526 GeneReviews: NBK1442
Savant_syndrome
Condition involving social and behavioral differences
Hamdan FF, Michaud JL (1993). "SYNGAP1-Related Intellectual Disability". GeneReviews®. University of Washington, Seattle. PMID 30789692. Chen JA, Peñagarikano
Autism
Group of genetic connective tissues disorders
Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. University of Washington, Seattle. PMID 20301422. Retrieved 2019-06-03
Ehlers–Danlos_syndrome
Disease that damages the myelin sheaths around nerves
8412 External resources MedlinePlus: 000737 eMedicine: neuro/228 oph/179 emerg/321 pmr/82 radio/461 Patient UK: Multiple sclerosis GeneReviews: Overview
Multiple_sclerosis
Birth defect of the collarbones, skull, and teeth
et al. (November 16, 2017). "Cleidocranial Dysplasia Spectrum Disorder". GeneReviews. PMID 20301686. Dore; et al. (January 1987). "Cleidocranial Dysostosis
Cleidocranial_dysostosis
Progressive neurodegenerative disease
DiseasesDB: 9651 External resources MedlinePlus: 000755 eMedicine: neuro/304 neuro/635 in young pmr/99 rehab GeneReviews: Parkinson Disease Overview
Parkinson's_disease
Progressive neurodegenerative disease
D000544 DiseasesDB: 490 External resources MedlinePlus: 000760 eMedicine: neuro/13 Patient UK: Alzheimer's disease GeneReviews: NBK1161 Scholia: Q11081
Alzheimer's_disease
Genetic disorder caused by a mutation of chromosome 15
Adam MP, Feldman J, Mirzaa GM, Pagon RA (eds.), "Angelman Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301323, retrieved
Angelman_syndrome
Rare neurodegenerative disease
MedlinePlus: 000688 eMedicine: neuro/14 emerg/24 pmr/10 Patient UK: ALS GeneReviews: Amyotrophic lateral sclerosis Radiopaedia: amyotrophic-lateral-sclerosis-3
ALS
Genetic disorder involving an imprinted genomic region
89392001 External resources MedlinePlus: 001605 eMedicine: ped/1880 Patient UK: Prader–Willi syndrome GeneReviews: Prader–Willi syndrome Orphanet: 739
Prader–Willi_syndrome
Rare genetic disease
PMC 1049945. PMID 3572995. Lyons, M (1993). "MED12-Related Disorders". GeneReviews. University of Washington, Seattle. PMID 20301719. Retrieved 6 September
FG_syndrome
Genetic disorder
N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome". GeneReviews. PMID 20301427. Reference, Genetics Home (December 2014). "Williams syndrome"
Williams_syndrome
Genetic disorder involving connective tissue
"Shprintzen-Goldberg". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews™ [Internet] (1993–). Seattle WA: University of Washington, Seattle. PMID 20301454
Marfan_syndrome
Medical condition
Headings (MeSH). U.S. National Library of Medicine. Retrieved 4 April 2022. GeneReviews/NCBI/NIH/UW entry on Von Hippel-Lindau Syndrome Von Hippel–Lindau Disease
Von_Hippel–Lindau_disease
Small size of an organism, caused by growth deficiency or genetic mutations
HC; Stephens, K; Amemiya, A; Ledbetter, N (2012). "Achondroplasia". GeneReviews. PMID 20301331. Çevik, Banu; Çolakoğlu, Serhan (2010). "Anesthetic management
Dwarfism
Inherited neurodegenerative disorder
2020. Caron NS, Wright GE, Hayden MR (June 2020). "Huntington Disease". Genereviews Bookshelf. University of Washington. PMID 20301482. Archived from the
Huntington's_disease
Neuromuscular disease
External resources MedlinePlus: 000727 eMedicine: orthoped/43 pmr/29 GeneReviews: Charcot–Marie–Tooth Hereditary Neuropathy OverviewCharcot–Marie–Tooth
Charcot–Marie–Tooth_disease
Autoimmune disorder
DiseasesDB: 2922 External resources MedlinePlus: 000233 eMedicine: med/308 ped/2146 radio/652 Patient UK: Coeliac disease GeneReviews: Celiac Disease
Coeliac_disease
Medical condition
Stephanie E. (eds.), "Craniometaphyseal Dysplasia, Autosomal Dominant", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301634, retrieved
Craniodiaphyseal_dysplasia
Medical condition
Nikki; Mefford, Heather C.; Smith, Richard J.H.; Stephens, Karen (eds.). GeneReviews. University of Washington, Seattle. PMID 20301673 – via PubMed. "Questions
CADASIL
Genetic disorder that causes early aging
; Pagon, Roberta A. (eds.), "Hutchinson-Gilford Progeria Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301300, retrieved
Progeria
Congenital condition where an individual with a 46,XX karyotype is male
Patient. Retrieved 12 January 2017. GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder
XX_male_syndrome
Genetic multisystem copper-transport disease
External resources MedlinePlus: 000785 eMedicine: med/2413 neuro/570 ped/2441 Patient UK: Wilson's disease GeneReviews: Wilson Disease Orphanet: 905
Wilson's_disease
Medical condition
DiseasesDB: 12069 External resources MedlinePlus: 000527 eMedicine: med/2126 oph/490 ped/2096 emerg/26 emerg/406 GeneReviews: Sickle Cell Disease Orphanet: 232
Sickle_cell_disease
Skeletal disorder
101106. PMC 8283316. PMID 34307793. Nunes ME (1993). "Hypophosphatasia". GeneReviews®. University of Washington, Seattle. PMID 20301329. "Hypophosphatasia
Osteoporosis
Medical condition
PMID 13860532. S2CID 30275809. "Discovery News: Henry VIII's eccentricities possibly explained". GeneReview/NIH/UW entry on McLeod Neuroacanthocytosis Syndrome
McLeod_syndrome
Most abundant structural protein in animals
Nephropathy". In Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds.). GeneReviews. Vol. Collagen IV-Related Nephropathies. Seattle WA: University of Washington
Collagen
Rare genetic disorder
2013) [2003]. "Multiple Epiphyseal Dysplasia, Autosomal Dominant". GeneReviews. University of Washington, Seattle. PMID 20301302. Archived from the
Multiple_epiphyseal_dysplasia
Injury to the innermost layer of the aorta
External resources MedlinePlus: 000181 eMedicine: emerg/28 Patient UK: Aortic dissection GeneReviews: Thoracic Aortic Aneurysms and Aortic Dissections
Aortic_dissection
Genetic disorder
Skelettsystem". Zeitschrift für Kinderheilkunde. 24 (5–6): 220–234. doi:10.1007/BF02222956. S2CID 34471544. GeneReview/NIH/UW entry on Mucopolysaccharidosis Type I
Hurler_syndrome
Medical condition
Cynthia R; Fong, Chin-To; Smith, Richard JH; Stephens, Karen (eds.). GeneReviews. Seattle: University of Washington. PMID 20301443. https://www.cancer
Peutz–Jeghers_syndrome
Metabolic disorders in which porphyrins build up in the body
LJH; Stephens, K.; Amemiya, A. (2018). "Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020. the symptoms in lead poisoning
Porphyria
Genetic condition involving facial, heart, blood and skeletal features
Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-18
Noonan_syndrome
X-linked recessive genetic condition
Retrieved 6 April 2026. Media related to Hunter syndrome at Wikimedia Commons GeneReview/NIH/UW entry on Mucopolysaccharidosis Type II Portal: Medicine
Hunter_syndrome
Medical condition
[1993–]. "Werner Syndrome". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301687. NBK1514
Werner_syndrome
Genetic autoinflammatory disease
PMC 4613641. PMID 26318474. Proteopedia 2wl1 information about the MEFV gene. GeneReview/NIH/UW entry on Familial Mediterranean Fever Familial Mediterranean Fever
Familial_Mediterranean_fever
Progressive neurological disease
Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. University of Washington, Seattle. PMID 25577942. Synofzik M, Ilg W
Spinocerebellar_ataxia
Medical condition
Lippincott Williams & Wilkins Health. p. Shwachman-Diamond Syndrome. ISBN 978-1451172683. GeneReviews/NCBI/NIH/UW entry on Shwachman–Diamond Syndrome
Shwachman–Diamond_syndrome
Group of genetic disorders resulting in fragile bones
Osteogenesis Imperfecta". In Adam MP, Ardinger HH, Pagon RA, et al. (eds.). GeneReviews [Internet]. University of Washington, Seattle. PMID 20301472. Archived
Osteogenesis_imperfecta
Inflammation of the pancreas
February 11, 2017. Wikimedia Commons has media related to Pancreatitis. GeneReviews/NCBI/NIH/UW entry on PRSS1-Related Hereditary Pancreatitis "Pancreatitis"
Pancreatitis
Medical condition
Collection of research papers as PDFs National Library of Medicine. Cherubism GeneReviews/NIH/UW entry on Cherubism Lisle DA, Monsour PA, Maskiell CD (August 2008)
Cherubism
Type of birthmark caused by a collection of melanocytes
; Bean LJH; Gripp, K. W.; Amemiya, A. (1993). "Neurofibromatosis 1". GeneReviews. PMID 20301288. Scheinfeld, Noah S.; et al. (2011). "Laser Treatment
Café_au_lait_spot
Medical condition
"Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders". GeneReviews. University of Washington, Seattle. PMID 22420014. Retrieved 5 May 2017
Cartilage–hair_hypoplasia
Feeding of babies or toddlers with milk from the human breast
Galactosemia". In Adam MP, Ardinger HH, Pagon RA, Wallace SE (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301691. Eglash
Breastfeeding
Rare genetic condition
2020-05-06. Wikimedia Commons has media related to Rubinstein-Taybi syndrome. GeneReview/UW/NIH entry on Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due
Rubinstein–Taybi_syndrome
Types of dementia involving the frontal or temporal lobes
OMIM: 600274 105550 614260 MeSH: D003704 DiseasesDB: 10034 External resources Patient UK: Frontotemporal dementia GeneReviews: MAPT-Related Disorders
Frontotemporal_dementia
Medical condition
gonadotropins". Pediatrics. 12 (4): 368–76. doi:10.1542/peds.12.4.368. PMID 13099907. S2CID 22644845. GeneReviews/NCBI/NIH/UW entry on Russell-Silver Syndrome
Silver–Russell_syndrome
Genetic condition involving iron buildup
haemochromatosis". Gut. 17 (5): 332–334. doi:10.1136/gut.17.5.332. PMC 1411133. PMID 1278715. GeneReview/NIH/UW entry on HFE-Associated Hereditary Hemochromatosis
Hereditary_haemochromatosis
Ciliopathic recessive genetic disorder
Classification D ICD-10: Q87.8 ICD-9-CM: 759.89 OMIM: 209900 MeSH: D020788 DiseasesDB: 7286 External resources GeneReviews: Bardet-Biedl Syndrome Orphanet: 110
Bardet–Biedl_syndrome
Medical condition
"Loeys-Dietz Syndrome". In Adam, MP; Ardinger, HH; Pagon, RA (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301312. Bertoli-Avella
Loeys–Dietz_syndrome
Sleep breathing disorder
D020182 DiseasesDB: 32976 External resources MedlinePlus: 000078 eMedicine: article/1002927 GeneReviews: Congenital central hypoventilation syndrome
Central hypoventilation syndrome
Central_hypoventilation_syndrome
Human genetic disorder
S2CID 80970016. Friedman, JM (3 April 2025). "Neurofibromatosis 1". GeneReviews. University of Washington, Seattle. PMID 20301288. Retrieved 10 February
Proteus_syndrome
Failure of the forebrain to develop into two hemispheres during embryonic growth
"Holoprosencephaly Overview". In Adam MP, Ardinger HH, Pagon RA, Wallace SE (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301702. Retrieved
Holoprosencephaly
Medical condition
E. (eds.), "Classic Galactosemia and Clinical Variant Galactosemia", GeneReviews, Seattle (WA): University of Washington, Seattle, PMID 20301691, retrieved
Galactosemia
Medical condition
DiseasesDB: 434 External resources MedlinePlus: 000120 eMedicine: med/108 Patient UK: Alpha-1 antitrypsin deficiency GeneReviews: Alpha1-Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency
Alpha-1_antitrypsin_deficiency
Genetic form of epilepsy
Miller IO, de Menezes MA (April 2019). "SCN1A seizure disorders.". GeneReviews®[Internet]. Seattle: University of Washington. PMID 20301494. Cheah C
Dravet_syndrome
Type of muscular dystrophy
August 2019. Darras BT, Urion DK, Ghosh PS (2018). "Dystrophinopathies". GeneReviews. Seattle (WA): University of Washington. PMID 20301298. Emery AE, Muntoni
Duchenne_muscular_dystrophy
Autosomal recessive metabolic disorder
Gripp KW, Mirzaa GM, Amemiya A (eds.). "Maple Syrup Urine Disease". GeneReviews [Internet]. University of Washington. PMID 20301495. NBK1319. Lavin LR
Maple_syrup_urine_disease
Medical condition
2351 External resources MedlinePlus: 001312 eMedicine: derm/704 Patient UK: Chédiak–Higashi syndrome GeneReviews: Chediak-Higashi Syndrome Orphanet: 167
Chédiak–Higashi_syndrome
Immune disorder in the blood leading to hyperinflammation
Joyce (January 17, 2013). "Familial Hemophagocytic Lymphohistiocytosis". GeneReviews. University of Washington, Seattle. PMID 20301617. NBK1444. Trapani JA
Hemophagocytic lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis
Largest known protein in human muscles
Wiktionary, the free dictionary. GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview GeneReviews/NCBI/NIH/UW entry on Udd Distal
Titin
Medical condition
Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Alport Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301386, retrieved
Alport_syndrome
Type of neurofibromatosis disease
MeSH: D009456 DiseasesDB: 8937 External resources MedlinePlus: 000847 eMedicine: derm/287 neuro/248 oph/338 radio/474 GeneReviews: Neurofibromatosis 1
Neurofibromatosis_type_I
Rare X-linked dominant genetic disorder
(incontinentia pigmenti)]. Schweizerische medizinische Wochenschrift (in German). 56. Basel: 404–5. GeneReview/NIH/UW entry on Incontinentia Pigmenti
Incontinentia_pigmenti
Abnormally large head size
2020-08-05. Retrieved 2020-04-27. GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS) GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion
Macrocephaly
Medical condition caused by chromosomal abnormality
Deletion Syndrome". In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.). GeneReviews. University of Washington, Seattle. PMID 20301696. NBK1523. Firth HV
DiGeorge_syndrome
Birth defect in which the brain lacks surface folds
Lissencephaly at NINDS GeneReviews/NCBI/NIH/UW entry on DCX-Related Disorders OMIM entries on DCX-Related Disorders GeneReview/NIH/UW entry on LIS1 Lissencephaly
Lissencephaly
Paralysis of all four limbs and torso
Classification D ICD-10: G82.5 ICD-9-CM: 344.0 MeSH: D011782 External resources MedlinePlus: 001066 GeneReviews: NBK344254
Tetraplegia
Severe reaction to general anesthesia
Riazi S, Dirksen R (2013). "Malignant Hyperthermia Susceptibility". GeneReviews. PMID 20301325. "OMIM Entry - * 180901 - RYANODINE RECEPTOR 1; RYR1"
Malignant_hyperthermia
Rare human genetic lysosomal storage disorder
YA, Eng CM (2002). "Alpha-Galactosidase A Deficiency: Fabry Disease". GeneReviews®. University of Washington, Seattle. Retrieved 28 June 2026. Šimčíková
Fabry_disease
Poisoning caused by lead in the body
Bean LJH, Stephens K, Amemiya A (2018). "Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020. the symptoms in lead poisoning
Lead_poisoning
Genetic disorder of the skull and face
Haldeman-Englert CR (October 20, 1998). "FGFR-Related Craniosynostosis Syndromes". GeneReviews. PMID 20301628. Rodriguez, Eduardo (2018). Plastic Surgery: Volume 3:
Crouzon_syndrome
Medical condition
2016. Phillips IR, Shephard EA (1993). "Primary Trimethylaminuria". GeneReviews. University of Washington, Seattle. "Trimethylaminuria". Genetics Home
Trimethylaminuria
Diminished activity of the gonads
21057 External resources MedlinePlus: 001195 eMedicine: article/922038 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview
Hypogonadism
Rare medical conditions that result in easy blistering of the skin and mucous membranes
Bick S, Mirzaa GM, Pagon RA (eds.), "Epidermolysis Bullosa Simplex", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301543, retrieved
Epidermolysis_bullosa
Genetic disorder of the skull
Craniosynostosis Syndromes Overview". FGFR-Related Craniosynostosis Syndromes. GeneReviews. NCBI. PMID 20301628. Hamm, A; Robin, N (Oct 2014). "Pfeiffer syndrome"
Pfeiffer_syndrome
Medical condition
; Pastores, Gregory M.; Mistry, Pramod K. (2000). "Gaucher Disease". GeneReviews. University of Washington, Seattle. Retrieved 2026-04-13. Online Mendelian
Gaucher's_disease
Rare autosomal-recessive human disease
DiseasesDB: 4980 External resources MedlinePlus: 001411 eMedicine: article/1150420 Patient UK: Friedreich's ataxia GeneReviews: Friedreich Ataxia Orphanet: 95
Friedreich's_ataxia
Medical condition
ICD-9-CM: 742.8 OMIM: 223900 MeSH: D004402 DiseasesDB: 11631 External resources MedlinePlus: 001387 eMedicine: oph/678 GeneReviews: Familial dysautonomia
Familial_dysautonomia
Medical condition
Stephanie E.; Bean, Lora JH; Stephens, Karen; Amemiya, Anne (eds.). GeneReviews®: Congenital Contractural Arachnodactyly. Seattle (WA): University of
Congenital contractural arachnodactyly
Congenital_contractural_arachnodactyly
Syndrome characterized by tremor, slowed movements, rigidity, and imbalance
September 10, 2021. Retrieved March 2, 2022. GeneReviews/NIH/NCBI/UW entry on Perry syndrome GeneReviews/NCBI/NIH/UW entry on X-Linked Dystonia-Parkinsonism
Parkinsonism
Medical condition
Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Kabuki Syndrome". GeneReviews [Internet]. PMID 21882399. Niikawa N, Matsuura N, Fukushima Y, Ohsawa
Kabuki_syndrome
Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 27929632. Retrieved
List_of_genetic_disorders
Rare neurodevelopmental disorder
Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G (eds.). GeneReviews®. Seattle, WA: University of Washington. PMID 30676711. "PPP2R5D-related
Jordan's_syndrome
Medical condition
312300 300068 MeSH: D013734 DiseasesDB: 29662 External resources MedlinePlus: 001180 eMedicine: ped/2222 GeneReviews: Androgen insensitivity syndrome
Androgen insensitivity syndrome
Androgen_insensitivity_syndrome
Medical condition
Roberta A.; Wallace, Stephanie E. (eds.), "Acute Intermittent Porphyria", GeneReviews®, University of Washington, Seattle, PMID 20301372, retrieved 2018-11-01
Acute_intermittent_porphyria
Medical condition
Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda OMIM
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal_dysplasia_congenita
One gene variant masking the effect of another in the other copy of the gene
Ghayda M.; Pagon, Roberta A. (eds.), "FBN1-Related Marfan Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301510, retrieved
Dominance_(genetics)
Chromosomal deletion syndrome
D054877 DiseasesDB: 32279 External resources eMedicine: ped/2446 Patient UK: Wolf–Hirschhorn syndrome GeneReviews: Wolf-Hirschhorn Syndrome Orphanet: 280
Wolf–Hirschhorn_syndrome
Impaired renal function disease
DiseasesDB: 3637 SNOMED CT: 111395007 External resources MedlinePlus: 000511 GeneReviews: Nephrogenic Diabetes Insipidus NORD: nephrogenic-diabetes-insipidus
Nephrogenic diabetes insipidus
Nephrogenic_diabetes_insipidus
Medical condition
eMedicine: med/908 ped/1866 Patient UK: Glycogen storage disease type II GeneReviews: Glycogen Storage Disease Type II (Pompe Disease) Orphanet: 365
Glycogen storage disease type II
Glycogen_storage_disease_type_II
Medical condition
Mirzaa GM, Pagon RA, Wallace SE (eds.), "Niemann-Pick Disease Type C", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301473, retrieved
Niemann–Pick_disease
Calcium channel blocker medication
Swoboda KJ, Ozelius L (1993). "ATP1A3-Related Neurologic Disorders". GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle. PMID 20301294
Flunarizine
Medical condition
; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Krabbe Disease", GeneReviews®, University of Washington, Seattle, PMID 20301416, retrieved 2019-11-25
Krabbe_disease
Uncomfortable "electric" sensation going down the back and limbs
Basel, D. (December 12, 2019). "COL1A1/2 Osteogenesis Imperfecta" (PDF). GeneReviews: 1–29. Retrieved February 4, 2020. Jones, A (Oct 1964). "Transient Radiation
Lhermitte's_sign
Congenital disorder of nervous system
Classification D OMIM: 125370 MeSH: D020191 DiseasesDB: 32909 External resources GeneReviews: DRPLA
Dentatorubral–pallidoluysian atrophy
Dentatorubral–pallidoluysian_atrophy
Type of neurofibromatosis disease
72 OMIM: 101000 MeSH: D016518 DiseasesDB: 8960 External resources MedlinePlus: 000795 eMedicine: neuro/496 radio/475 GeneReviews: Neurofibromatosis 2
Neurofibromatosis_type_II
Sleep-related disorder in which the effort to breathe is diminished
32976 SNOMED CT: 27405005 External resources MedlinePlus: 000078 eMedicine: article/1002927 GeneReviews: Congenital central hypoventilation syndrome
Central_sleep_apnea
Medical condition
Ghayda M.; Pagon, Roberta A. (eds.), "Hypohidrotic Ectodermal Dysplasia", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301291, retrieved
Hypohidrotic ectodermal dysplasia
Hypohidrotic_ectodermal_dysplasia
GENEREVIEWS
GENEREVIEWS
GENEREVIEWS
GENEREVIEWS
Boy/Male
German, Teutonic
Brave People; Bold for his People
Girl/Female
African, American, Australian, British, Chinese, Christian, Danish, English, Hebrew, Jamaican, Japanese
Palm Tree; Twin; Spice; Tamara; Let People See Benefit; Night; Dark Phase of the Moon
Boy/Male
Hindu, Indian, Traditional
Water Clad; A Spring; A Fountain
Girl/Female
Tamil
Shrankhla | à®·à¯à®°à®‚கலா
Born in the month of Shravan, Series
Male
English
Variant spelling of English Uzzia, UZZIAH means "power of Jehovah."
Girl/Female
British, Danish, Dutch, English, German, Greek
Originally a Diminutive of Dorothea; Gift
Girl/Female
Muslim
High. Exalted. Lofty. Sublimity.
Girl/Female
Indian, Telugu
Giving Message
Boy/Male
Gujarati, Hindu, Indian, Jain, Kannada, Marathi
Follower of Jainism
Boy/Male
Hindu
GENEREVIEWS
GENEREVIEWS
GENEREVIEWS
GENEREVIEWS
GENEREVIEWS