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ORPHANET

  • Orphanet
  • Rare disease database

    Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert

    Orphanet

    Orphanet

  • Orphanet Journal of Rare Diseases
  • Academic journal

    The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and

    Orphanet Journal of Rare Diseases

    Orphanet_Journal_of_Rare_Diseases

  • List of genetic disorders
  • 1576. PMID 11579431. "Orphanet: Autosomal recessive limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "Orphanet: Autosomal dominant

    List of genetic disorders

    List_of_genetic_disorders

  • Ring chromosome
  • Chromosome whose ends have fused together to form a ring

    1 - National Organization for Rare Disorders". Retrieved 2025-12-10. "Orphanet: Ring chromosome 2 syndrome". www.orpha.net. "Ring 2" (PDF). Archived from

    Ring chromosome

    Ring chromosome

    Ring_chromosome

  • Brachydactyly type D
  • Abnormal shortening of the distal part of the thumb

    PMID 14295653. Temtamy, Samia A; Aglan, Mona S (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi:10.1186/1750-1172-3-15. ISSN 1750-1172

    Brachydactyly type D

    Brachydactyly type D

    Brachydactyly_type_D

  • Arthrogryposis
  • Medical condition

    seizures - migrational brain disorder". Orphanet. Archived from the original on 2019-04-08. Retrieved 2008-08-10.ORPHANET - About rare diseases - About orphan

    Arthrogryposis

    Arthrogryposis

    Arthrogryposis

  • Pfeiffer syndrome
  • Genetic disorder of the skull

    international attention. Vogels A, Fryns JP (2006). "Pfeiffer syndrome". Orphanet J Rare Dis. 1: 19. doi:10.1186/1750-1172-1-19. PMC 1482682. PMID 16740155

    Pfeiffer syndrome

    Pfeiffer syndrome

    Pfeiffer_syndrome

  • Sanfilippo syndrome
  • Rare metabolism disorder

    clinical care". Orphanet Journal of Rare Diseases. 17 (1) 391. doi:10.1186/s13023-022-02484-6. PMC 9612603. PMID 36303195. "Orphanet: Mucopolysaccharidosis

    Sanfilippo syndrome

    Sanfilippo syndrome

    Sanfilippo_syndrome

  • XXXXY syndrome
  • Chromosomal anomaly

    (2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet J Rare Dis. 1 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147

    XXXXY syndrome

    XXXXY syndrome

    XXXXY_syndrome

  • Pili multigemini
  • Medical condition

    List of cutaneous conditions Camacho-Martínez, Francisco (May 2012). "Orphanet: Pili gemini". www.orpha.net. Retrieved 30 January 2020. McElwee, Kevin

    Pili multigemini

    Pili multigemini

    Pili_multigemini

  • ICD coding for rare diseases
  • Codes in the International Classification of Diseases

    directly for assistance. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Orphanet outlines the ICD-10 coding

    ICD coding for rare diseases

    ICD_coding_for_rare_diseases

  • Methylmalonic acidemias
  • Medical condition

    Orphanet. Retrieved 2024-04-27. "Imerslund-Gräsbeck syndrome". Orphanet. Retrieved 2024-04-27. "Congenital intrinsic factor deficiency". Orphanet. Retrieved

    Methylmalonic acidemias

    Methylmalonic acidemias

    Methylmalonic_acidemias

  • XXXY syndrome
  • Medical condition

    (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172

    XXXY syndrome

    XXXY_syndrome

  • Neurosarcoidosis
  • Medical condition

    PMID 8862347. Nunes H, Bouvry D, Soler P, Valeyre D (2007). "Sarcoidosis". Orphanet J Rare Dis. 2: 46. doi:10.1186/1750-1172-2-46. PMC 2169207. PMID 18021432

    Neurosarcoidosis

    Neurosarcoidosis

    Neurosarcoidosis

  • Williams syndrome
  • Genetic disorder

    758.9 OMIM: 194050 MeSH: D018980 DiseasesDB: 859 External resources MedlinePlus: 001116 eMedicine: ped/2439 GeneReviews: Williams Syndrome Orphanet: 904

    Williams syndrome

    Williams syndrome

    Williams_syndrome

  • Hughes–Stovin syndrome
  • Autoimmune disorder

    PMID 35782036. Khalid, Umair; Saleem, Taimur (2011). "Hughes-Stovin Syndrome". Orphanet Journal of Rare Diseases. 6 (1): 15. doi:10.1186/1750-1172-6-15. ISSN 1750-1172

    Hughes–Stovin syndrome

    Hughes–Stovin syndrome

    Hughes–Stovin_syndrome

  • Postorgasmic illness syndrome
  • Ejaculation-induced chronic symptoms

    disease by the American National Institutes of Health and the European Orphanet. It is thought to be underdiagnosed and underreported. POIS seems to affect

    Postorgasmic illness syndrome

    Postorgasmic_illness_syndrome

  • Oculocutaneous albinism
  • Form of albinism

    National Library of Medicine. Retrieved 5 August 2020. "Orphanet: Oculocutaneous albinism". Orphanet. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE

    Oculocutaneous albinism

    Oculocutaneous_albinism

  • Antisynthetase syndrome
  • Medical condition

    antisyntetase antibodies is 76.8%. Antisynthetase syndrome is estimated by Orphanet to affect 1–3 people per 100,000 worldwide; however, precise data on the

    Antisynthetase syndrome

    Antisynthetase syndrome

    Antisynthetase_syndrome

  • Pentasomy X
  • Chromosomal disorder

    A, Wilson R, Wilson L (11 May 2010). "A review of trisomy X (47,XXX)". Orphanet Journal of Rare Diseases. 5 (8): 8. doi:10.1186/1750-1172-5-8. PMC 2883963

    Pentasomy X

    Pentasomy X

    Pentasomy_X

  • Rare disease
  • Disease affecting a small percentage of the population

    reconciles a wide variety of rare disease knowledge sources, such as OMIM and Orphanet. This was the first count since 1983, demonstrating that there were >10

    Rare disease

    Rare_disease

  • Hemimelia
  • Medical condition

    (2021-03-18). "Amelia". Centers for Disease Control and Prevention. Retrieved 2023-03-20. Orphanet 93323 Orphanet 93322 Orphanet 93321 Orphanet 93320

    Hemimelia

    Hemimelia

    Hemimelia

  • Alpha-thalassemia
  • Inherited blood disorder causing anemia

    Retrieved 7 January 2025. Pondarre, Corinne (May 2021). "Orphanet: Hb Bart's hydrops fetalis". Orphanet. Retrieved 22 January 2025. "Pathophysiology of alpha

    Alpha-thalassemia

    Alpha-thalassemia

    Alpha-thalassemia

  • Kikuchi disease
  • Medical condition

    PMID 15570824. Bosch X, Guilabert A (2006). "Kikuchi-Fujimoto disease". Orphanet J Rare Dis. 1: 18. doi:10.1186/1750-1172-1-18. PMC 1481509. PMID 16722618

    Kikuchi disease

    Kikuchi disease

    Kikuchi_disease

  • Blepharophimosis intellectual disability syndromes
  • Medical condition

    February 1, 2017. Retrieved 2022-06-01. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Blepharophimosis intellectual disability syndrome". www.orpha.net. Retrieved

    Blepharophimosis intellectual disability syndromes

    Blepharophimosis_intellectual_disability_syndromes

  • Centronuclear myopathy
  • Muscular disease caused by misplaced cell nuclei

    Laporte, Jocelyn (2008-09-25). "Centronuclear (myotubular) myopathy". Orphanet Journal of Rare Diseases. 3 (1): 26. doi:10.1186/1750-1172-3-26. ISSN 1750-1172

    Centronuclear myopathy

    Centronuclear myopathy

    Centronuclear_myopathy

  • Blue baby syndrome
  • Two situations that lead to cyanosis in infants

    and Prevention. 22 November 2019. Reserved, INSERM US14 – All Rights. "Orphanet: Truncus arteriosus". www.orpha.net. Retrieved 20 November 2019.{{cite

    Blue baby syndrome

    Blue baby syndrome

    Blue_baby_syndrome

  • Wolf–Hirschhorn syndrome
  • Chromosomal deletion syndrome

    PMID 24979523. Wieczorek D (September 2003). "Wolf-Hirschhorn syndrome" (PDF). Orphanet encyclopedia. Archived from the original (PDF) on 2021-03-09. Retrieved

    Wolf–Hirschhorn syndrome

    Wolf–Hirschhorn syndrome

    Wolf–Hirschhorn_syndrome

  • Achondroplasia
  • Genetic condition, the most common form of dwarfism

    S2CID 22430204. Pauli RM (2019). "Achondroplasia: A comprehensive clinical review". Orphanet Journal of Rare Diseases. 14 (1) 1. doi:10.1186/s13023-018-0972-6. PMC 6318916

    Achondroplasia

    Achondroplasia

  • Peutz–Jeghers syndrome
  • Medical condition

    Jelsig, AM; et al. (2014), "Hamartomatous polyposis syndromes: a review", Orphanet J Rare Dis, 9 (1): 101–111, doi:10.1186/1750-1172-9-101, PMC 4112971, PMID 25022750

    Peutz–Jeghers syndrome

    Peutz–Jeghers syndrome

    Peutz–Jeghers_syndrome

  • Dercum's disease
  • Medical condition

    condition. It has been recognized by the World Health Organization in ICD-10. Orphanet and the National Organization of Rare Disorders also listed the disease

    Dercum's disease

    Dercum's_disease

  • Schimmelpenning syndrome
  • Medical condition

    Classification D ICD-10: Q85.8 OMIM: 163200 MeSH: D054000 External resources Orphanet: 2612

    Schimmelpenning syndrome

    Schimmelpenning syndrome

    Schimmelpenning_syndrome

  • Nasopharyngeal carcinoma
  • Type of throat cancer; most common to occur in the nasopharynx

    PMID 25197911. S2CID 30791737. Brennan B (June 2006). "Nasopharyngeal carcinoma". Orphanet Journal of Rare Diseases. 1: 23. doi:10.1186/1750-1172-1-23. PMC 1559589

    Nasopharyngeal carcinoma

    Nasopharyngeal carcinoma

    Nasopharyngeal_carcinoma

  • Athabaskan brainstem dysgenesis syndrome
  • Medical condition

    8 OMIM: 601536 MeSH: C535397 DiseasesDB: 33191 SNOMED CT: 720518006 External resources GARD: Athabaskan brainstem dysgenesis syndrome Orphanet: 69739

    Athabaskan brainstem dysgenesis syndrome

    Athabaskan brainstem dysgenesis syndrome

    Athabaskan_brainstem_dysgenesis_syndrome

  • Primary pigmented nodular adrenocortical disease
  • Medical condition

    PMID 25797902. S2CID 6935363. Bertherat, Jérôme (2006). "Carney complex (CNC)". Orphanet Journal of Rare Diseases. 1 21. doi:10.1186/1750-1172-1-21. PMC 1513551

    Primary pigmented nodular adrenocortical disease

    Primary pigmented nodular adrenocortical disease

    Primary_pigmented_nodular_adrenocortical_disease

  • Melnick–Needles syndrome
  • X-linked dominant disorder that affects primarily bone development

    "Melnick-Needles Syndrome". Orphanet. Retrieved July 3, 2021. "Melnick Needles Syndrome". Retrieved July 4, 2021. "Melnick-Needles Syndrome". Orphanet. Retrieved July

    Melnick–Needles syndrome

    Melnick–Needles syndrome

    Melnick–Needles_syndrome

  • Gómez–López-Hernández syndrome
  • Medical condition

    Classification D ICD-10: Q07.8 OMIM: 601853 MeSH: C537285 External resources Orphanet: 1532

    Gómez–López-Hernández syndrome

    Gómez–López-Hernández syndrome

    Gómez–López-Hernández_syndrome

  • Aphallia
  • Failure of the penis or clitoris to develop during embryonic growth

    where the testicles fail to develop RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Penile agenesis". www.orpha.net. Retrieved 16 March 2019.{{cite web}}:

    Aphallia

    Aphallia

  • XXYY syndrome
  • Extra X and Y chromosome in males

    PMID 17497714. S2CID 25732790. Corsini, Carole; Sarda, Pierre. "48,XXYY syndrome". Orphanet. Muldal S, Ockey CH (August 27, 1960). "The "double male": a new chromosome

    XXYY syndrome

    XXYY syndrome

    XXYY_syndrome

  • Proteus syndrome
  • Human genetic disorder

    Classification D OMIM: 176920 MeSH: D016715 DiseasesDB: 30070 External resources eMedicine: derm/721 ped/1912 Orphanet: 744

    Proteus syndrome

    Proteus syndrome

    Proteus_syndrome

  • Acromesomelic dysplasia
  • Medical condition

    "Acromesomelic Dysplasia". www.childrenshospital.org. Retrieved 2020-11-10. "Orphanet: Acromesomelic dwarfism". www.orpha.net. Retrieved 2020-11-10. Geister

    Acromesomelic dysplasia

    Acromesomelic_dysplasia

  • Pulmonary vein stenosis
  • Medical condition

    D000071078 SNOMED CT: 234062003 External resources GARD: Congenital pulmonary veins atresia or stenosis Radiopaedia: 31975 Orphanet: 3188 Scholia: Q25324124

    Pulmonary vein stenosis

    Pulmonary vein stenosis

    Pulmonary_vein_stenosis

  • Trisomy 18
  • Chromosomal disorder in which there are three copies of chromosome 18

    syndrome (T18): Information for parents". December 2020. "Trisomy 18". Orphanet. May 2008. Archived from the original on 3 October 2016. Retrieved 1 October

    Trisomy 18

    Trisomy 18

    Trisomy_18

  • Dopamine beta hydroxylase deficiency
  • Medical condition

    Rouet, Philippe (2006-01-01). "Dopamine beta-hydroxylase deficiency". Orphanet Journal of Rare Diseases. 1 7. doi:10.1186/1750-1172-1-7. ISSN 1750-1172

    Dopamine beta hydroxylase deficiency

    Dopamine beta hydroxylase deficiency

    Dopamine_beta_hydroxylase_deficiency

  • Renal hypoplasia
  • Congenital abnormality of the kidneys

    003.0348. ISBN 978-0-19-959254-8. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Renal hypoplasia". www.orpha.net. Retrieved 16 August 2023.{{cite web}}:

    Renal hypoplasia

    Renal hypoplasia

    Renal_hypoplasia

  • Coffin–Siris syndrome
  • Medical condition

    doi:10.1016/j.ejmg.2018.04.014. PMID 29698805. S2CID 23207774. Coffin–Siris syndrome on Orphanet synd/3426 at Whonamedit? Coffin-Siris Syndrome Foundation

    Coffin–Siris syndrome

    Coffin–Siris syndrome

    Coffin–Siris_syndrome

  • XX male syndrome
  • Congenital condition where an individual with a 46,XX karyotype is male

    article incorporates text from this source, which is in the public domain. "Orphanet: 46,XX testicular disorder of sex development". www.orpha.net. Archived

    XX male syndrome

    XX male syndrome

    XX_male_syndrome

  • Bainbridge–Ropers syndrome
  • Human genetic disorder

    Classification D ICD-11: LD2Y ICD-10: Q87.0 OMIM: 615485 MeSH: C000726367 External resources GeneReviews: ASXL3-Related Disorder Orphanet: 352577

    Bainbridge–Ropers syndrome

    Bainbridge–Ropers syndrome

    Bainbridge–Ropers_syndrome

  • Autoimmune polyendocrine syndrome type 1
  • Autoimmune condition causing dysfunction of endocrine glands

    original on 2008-12-09. Retrieved 20 November 2020. INSERM RESERVED. "Orphanet: Autoimmune polyendocrinopathy type 1". www.orpha.net. Archived from the

    Autoimmune polyendocrine syndrome type 1

    Autoimmune polyendocrine syndrome type 1

    Autoimmune_polyendocrine_syndrome_type_1

  • Ataxia–telangiectasia
  • Rare neurodegenerative disease

    ; Lederman, Howard M. (2016-11-25). "Ataxia telangiectasia: a review". Orphanet Journal of Rare Diseases. 11 (1): 159. doi:10.1186/s13023-016-0543-7. ISSN 1750-1172

    Ataxia–telangiectasia

    Ataxia–telangiectasia

  • Necrolytic acral erythema
  • Medical condition

    50. List of cutaneous conditions RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Zinc responsive necrolytic acral erythema". www.orpha.net. Retrieved 16

    Necrolytic acral erythema

    Necrolytic acral erythema

    Necrolytic_acral_erythema

  • Annuloaortic ectasia
  • Medical condition

    structural abnormalities. Aortic regurgitation Aortic valve replacement "Orphanet: Familial aortic dissection". Orpha.net. Retrieved 29 May 2019. An, Zhao;

    Annuloaortic ectasia

    Annuloaortic ectasia

    Annuloaortic_ectasia

  • Erythropoietic protoporphyria
  • Medical condition

    List of cutaneous conditions "Autosomal erythropoietic protoporphyria". Orphanet. Retrieved 17 April 2019. Casanova-González MJ, Trapero-Marugán M, Jones

    Erythropoietic protoporphyria

    Erythropoietic protoporphyria

    Erythropoietic_protoporphyria

  • Tetrasomy X
  • Chromosomal disorder with 4 X chromosomes

    ISBN 978-0-615-57400-4. Ayara N, Berge A, Howell S, Tartaglia N. "Orphanet: Tetrasomía X". Orphanet. Retrieved 24 March 2024. Wilson R, Bennett E, Howell SE,

    Tetrasomy X

    Tetrasomy X

    Tetrasomy_X

  • Toxic epidermal necrolysis
  • Severe skin reaction involving fever, blistering, and peeling

    original on 27 April 2017. Retrieved 26 April 2017. "Orphanet: Toxic epidermal necrolysis". Orphanet. November 2008. Archived from the original on 27 April

    Toxic epidermal necrolysis

    Toxic epidermal necrolysis

    Toxic_epidermal_necrolysis

  • Cri du chat syndrome
  • Human medical condition

    August 2017. Cerruti Mainardi, Paola (2006-09-05). "Cri du Chat syndrome". Orphanet Journal of Rare Diseases. 1 33. doi:10.1186/1750-1172-1-33. ISSN 1750-1172

    Cri du chat syndrome

    Cri du chat syndrome

    Cri_du_chat_syndrome

  • Harlequin syndrome
  • Medical condition

    Syndrome". Cleveland Clinic. Retrieved 2023-08-29. "Harlequin syndrome". Orphanet. Archived from the original on 2024-07-09. Retrieved 2024-12-23. Manhães

    Harlequin syndrome

    Harlequin syndrome

    Harlequin_syndrome

  • Poland syndrome
  • Malformation of the chest muscle and fingers on one side of the body

    ICD-10: Q79.8 ICD-9-CM: 756.89 OMIM: 173800 MeSH: D011045 DiseasesDB: 31679 SNOMED CT: 38371006 External resources eMedicine: plastic/132 Orphanet: 2911

    Poland syndrome

    Poland syndrome

    Poland_syndrome

  • Delta-beta thalassemia
  • Medical condition

    thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Archived from the original on 9 October 2015. Retrieved 16 September 2016

    Delta-beta thalassemia

    Delta-beta thalassemia

    Delta-beta_thalassemia

  • Gordon syndrome
  • Medical condition

    1270–1278. doi:10.1002/ajmg.a.38169. ISSN 1552-4833. Gordon syndrome. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376

    Gordon syndrome

    Gordon syndrome

    Gordon_syndrome

  • Childhood dementia
  • Group of neurodegenerative conditions

    childhood dementia on children and their parents: a systematic review". Orphanet Journal of Rare Diseases. 18 (1): 277. doi:10.1186/s13023-023-02859-3.

    Childhood dementia

    Childhood_dementia

  • Barber–Say syndrome
  • Medical condition

    Bone. 27 (5): 591–602. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344. "Orphanet: Barber Say syndrome". www.orpha.net. January 2014. Retrieved 2019-01-21

    Barber–Say syndrome

    Barber–Say syndrome

    Barber–Say_syndrome

  • Chronic actinic dermatitis
  • Dermatological condition

    Photosensitivity with HIV infection Skin lesion RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Chronic actinic dermatitis". www.orpha.net. Retrieved 19 April 2019.{{cite

    Chronic actinic dermatitis

    Chronic_actinic_dermatitis

  • X-linked thrombocytopenia
  • Medical condition

    Classification D ICD-10: D69.4 OMIM: 313900 External resources Orphanet: 852

    X-linked thrombocytopenia

    X-linked thrombocytopenia

    X-linked_thrombocytopenia

  • 6-Pyruvoyltetrahydropterin synthase deficiency
  • Medical condition

    causes HPA but not all HPA is PKU. 6-pyruvoyltetrahydropterin synthase "Orphanet: 6 pyruvoyl tetrahydropterin synthase deficiency". www.orpha.net. Retrieved

    6-Pyruvoyltetrahydropterin synthase deficiency

    6-Pyruvoyltetrahydropterin synthase deficiency

    6-Pyruvoyltetrahydropterin_synthase_deficiency

  • Von Hippel–Lindau disease
  • Medical condition

    Haemangioblastoma Epithelial sodium channel Nephron Proximal convoluted tubule "Orphanet: Von Hippel Lindau disease". www.orpha.net. Retrieved 25 May 2019. Leung

    Von Hippel–Lindau disease

    Von Hippel–Lindau disease

    Von_Hippel–Lindau_disease

  • Trevor disease
  • Medical condition

    Classification D ICD-11: LD24.2Y ICD-10: Q74.8 OMIM: 127800 MeSH: C537997 External resources GARD: Dysplasia epiphysealis hemimelica Orphanet: 1822

    Trevor disease

    Trevor disease

    Trevor_disease

  • Cerebellar hypoplasia
  • Neurological condition of the cerebellum

    Classification D ICD-10: Q04.3 ICD-9-CM: 742.2 OMIM: 213000 MeSH: C562568 External resources Orphanet: 1398

    Cerebellar hypoplasia

    Cerebellar hypoplasia

    Cerebellar_hypoplasia

  • Moebius syndrome
  • Facial muscle paralysis from birth

    malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome". Orphanet J Rare Dis. 2 2. doi:10.1186/1750-1172-2-2. PMC 1774563. PMID 17210070

    Moebius syndrome

    Moebius syndrome

    Moebius_syndrome

  • Rh deficiency syndrome
  • Medical condition

    OMIM: 617970 268150 MeSH: C562717 DiseasesDB: 29712 SNOMED CT: 37272000 External resources GARD: Rh deficiency syndrome Orphanet: 71275 Scholia: Q7319955

    Rh deficiency syndrome

    Rh deficiency syndrome

    Rh_deficiency_syndrome

  • Myasthenia gravis
  • Autoimmune disease resulting in skeletal muscle weakness

    patients with McArdle disease and other muscle glycogenoses (EUROMAC)". Orphanet Journal of Rare Diseases. 15 (1): 330. doi:10.1186/s13023-020-01562-x.

    Myasthenia gravis

    Myasthenia gravis

    Myasthenia_gravis

  • McCune–Albright syndrome
  • Mosaic genetic disorder affecting the bone, skin and endocrine systems

    Claudia E.; Collins, Michael T. (19 May 2008). "McCune-Albright syndrome". Orphanet Journal of Rare Diseases. 3 (1): 12. doi:10.1186/1750-1172-3-12. PMC 2459161

    McCune–Albright syndrome

    McCune–Albright syndrome

    McCune–Albright_syndrome

  • Bardet–Biedl syndrome
  • 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

    Bardet–Biedl syndrome

    Bardet–Biedl_syndrome

  • Cat eye syndrome
  • Genetic partial duplication of chromosome 22

    with the chromosome 22 trisomy findings. Trisomy 22 "Cat eye syndrome". Orphanet. Retrieved 20 March 2019. Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr

    Cat eye syndrome

    Cat eye syndrome

    Cat_eye_syndrome

  • Wieacker syndrome
  • Medical condition

    ISSN 0964-6906. PMC 4527488. PMID 26056227. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Intellectual disability developmental delay contractures syndrome". www

    Wieacker syndrome

    Wieacker syndrome

    Wieacker_syndrome

  • Marshall–Smith syndrome
  • Medical condition

    Classification D OMIM: 602535 MeSH: C536026 SNOMED CT: 73284007 External resources Orphanet: 561

    Marshall–Smith syndrome

    Marshall–Smith_syndrome

  • Macular hypoplasia
  • Medical condition

    Classification D ICD-10: H26.0 OMIM: 136520 External resources Orphanet: 2253

    Macular hypoplasia

    Macular hypoplasia

    Macular_hypoplasia

  • Congenital contractural arachnodactyly
  • Medical condition

    (December 2006). "Congenital contractural arachnodactyly (Beals syndrome)". Orphanet Journal of Rare Diseases. 1 (1): 20. doi:10.1186/1750-1172-1-20. PMC 1524931

    Congenital contractural arachnodactyly

    Congenital contractural arachnodactyly

    Congenital_contractural_arachnodactyly

  • Börjeson–Forssman–Lehmann syndrome
  • Medical condition

    original on 2019-04-08. Retrieved 2015-07-24. "Orphanet: Borjeson Forssman Lehmann syndrome". Orphanet. Retrieved 2015-07-24. Ernst A, Le VQ, Højland

    Börjeson–Forssman–Lehmann syndrome

    Börjeson–Forssman–Lehmann syndrome

    Börjeson–Forssman–Lehmann_syndrome

  • Hyperekplexia
  • Genetic disorder causing an exaggerated startle response

    OMIM: 149400 138491 138492 300429 300607 603930 604159 MeSH: D000071017 DiseasesDB: 7208 External resources GeneReviews: Hyperekplexia Orphanet: 306773

    Hyperekplexia

    Hyperekplexia

    Hyperekplexia

  • Morquio syndrome
  • Medical condition

    OMIM: 253000 253010 MeSH: D009085 DiseasesDB: 30807 External resources MedlinePlus: 001206 eMedicine: ped/1477 Patient UK: Morquio syndrome Orphanet: 582

    Morquio syndrome

    Morquio syndrome

    Morquio_syndrome

  • Diphallia
  • Genital medical condition

    Classification D ICD-10: Q55.6 External resources Orphanet: 227

    Diphallia

    Diphallia

    Diphallia

  • Mal de debarquement
  • Medical condition

    syndrome (space flight "zero-g" and return) Inserm US14. "Orphanet: Mal de débarquement". Orphanet. Retrieved 24 May 2019.{{cite web}}: CS1 maint: numeric

    Mal de debarquement

    Mal_de_debarquement

  • Catastrophic antiphospholipid syndrome
  • Medical condition

    Classification D ICD-10: D68.6 External resources Orphanet: 464343

    Catastrophic antiphospholipid syndrome

    Catastrophic_antiphospholipid_syndrome

  • Nevo syndrome
  • Medical condition

    Classification D OMIM: 601451 MeSH: C536113 External resources Orphanet: 2691

    Nevo syndrome

    Nevo syndrome

    Nevo_syndrome

  • Foix–Chavany–Marie syndrome
  • Medical condition

    Classification D ICD-10: G12.2 MeSH: C537069 External resources Orphanet: 2048

    Foix–Chavany–Marie syndrome

    Foix–Chavany–Marie syndrome

    Foix–Chavany–Marie_syndrome

  • Pili bifurcati
  • Medical condition

    Journal of Dermatology. 10 (5): 337–340. PMID 10882940. "Orphanet: Pili bifurcati". Orphanet. 2024-02-29. Retrieved 2024-03-23. Ruiz-Villaverde, R; Villanova-Mateu

    Pili bifurcati

    Pili_bifurcati

  • Ada Health
  • Health company based in Berlin

    Evaluating the potential impact of Ada DX in a retrospective study". Orphanet Journal of Rare Diseases. 14 (1): 69. doi:10.1186/s13023-019-1040-6. ISSN 1750-1172

    Ada Health

    Ada Health

    Ada_Health

  • Dravet syndrome
  • Genetic form of epilepsy

    607208 DiseasesDB: 33728 SNOMED CT: 230437002 External resources GeneReviews: NBK1318 NORD: dravet-syndrome-spectrum GARD: dravet-syndrome Orphanet: 33069

    Dravet syndrome

    Dravet syndrome

    Dravet_syndrome

  • Omphalocele
  • Congenital defect

    D ICD-10: Q79.2 ICD-9-CM: 756.72 OMIM: 164750 MeSH: D006554 DiseasesDB: 23647 External resources MedlinePlus: 000994 eMedicine: rad/483 Orphanet: 660

    Omphalocele

    Omphalocele

    Omphalocele

  • Renal collecting duct carcinoma
  • Type of kidney cancer

    Classification D ICD-10: C64 MeSH: D002292 External resources Orphanet: 247203

    Renal collecting duct carcinoma

    Renal collecting duct carcinoma

    Renal_collecting_duct_carcinoma

  • Onychomatricoma
  • Medical condition

    Classification D ICD-11: 2F2Y ICD-10: D23.9 SNOMED CT: 773629001 External resources eMedicine: article/1106626 Orphanet: 300512 Scholia: Q7095153

    Onychomatricoma

    Onychomatricoma

  • Linear focal elastosis
  • Medical condition

    Classification D ICD-11: EM0Y ICD-10: L98.8 SNOMED CT: 773697006 External resources Orphanet: 228236 Scholia: Q6553446

    Linear focal elastosis

    Linear focal elastosis

    Linear_focal_elastosis

  • Cohen syndrome
  • Medical condition

    0.co;2-d. PMID 10842298. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Mirhosseini Holmes Walton syndrome". www.orpha.net. Retrieved 28 June

    Cohen syndrome

    Cohen syndrome

    Cohen_syndrome

  • Dysphagia lusoria
  • Medical condition

    Classification D ICD-10: Q25.4 External resources Orphanet: 99082

    Dysphagia lusoria

    Dysphagia lusoria

    Dysphagia_lusoria

  • Giant cell arteritis
  • Inflammatory disease of large blood vessels

     367. ISBN 978-0-12-803268-8. Archived from the original on 2017-10-22. "Orphanet: Giant cell arteritis". www.orpha.net. Archived from the original on 14

    Giant cell arteritis

    Giant cell arteritis

    Giant_cell_arteritis

  • Aagenaes syndrome
  • Medical condition

    OMIM: 214900 MeSH: C535330 DiseasesDB: 32129 SNOMED CT: 28724005 External resources GARD: Cholestasis-lymphedema syndrome Orphanet: 1414 Scholia: Q300801

    Aagenaes syndrome

    Aagenaes syndrome

    Aagenaes_syndrome

  • Loeys–Dietz syndrome
  • Medical condition

    however, Type 1 and 2 appear to be the most common. "Loeys Dietz syndrome". Orphanet. Archived from the original on 30 July 2017. Retrieved 27 July 2017. "Research

    Loeys–Dietz syndrome

    Loeys–Dietz syndrome

    Loeys–Dietz_syndrome

  • Lists of diseases
  • Terms from National Institutes of Health Search for a rare disease from Orphanet List of Diseases from Biomedical Entity Network This article includes a

    Lists of diseases

    Lists_of_diseases

  • Floating–Harbor syndrome
  • Medical condition

    characterization of 52 individuals with mutations in exon 34 of SRCAP". Orphanet Journal of Rare Diseases. 8: 63. doi:10.1186/1750-1172-8-63. PMC 3659005

    Floating–Harbor syndrome

    Floating–Harbor syndrome

    Floating–Harbor_syndrome

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Online names & meanings

  • Groft
  • Surname or Lastname

    English

    Groft

    English : of uncertain origin; perhaps an altered form of Croft.

  • Denadayal
  • Boy/Male

    Gujarati, Hindu, Indian, Kannada, Marathi, Telugu, Traditional

    Denadayal

    Humble and Merciful

  • Mahabhag
  • Boy/Male

    Hindu, Indian

    Mahabhag

    Fortunate Person

  • Satrujeet
  • Boy/Male

    Indian, Punjabi, Sikh

    Satrujeet

    Victory over Enemies

  • Aahan
  • Boy/Male

    Gujarati, Hindu, Indian, Kannada, Muslim, Sanskrit, Tamil

    Aahan

    Iron; Sword; Dawn (Early Morning); First Way of Light; Iron Man

  • Haggard
  • Surname or Lastname

    English

    Haggard

    English : nickname from Middle English, Old French hagard ‘wild’, ‘untamed’. This word was adopted into Middle English as a technical term in falconry to denote a hawk that had been captured and trained when already fully grown, rather than being reared in captivity; the surname may have developed as a metonymic occupational name for a falconer.Americanized form of Danish Ågård (see Agard).

  • Brookens
  • Surname or Lastname

    English

    Brookens

    English : variant spelling of Brookins.

  • DRUMMOND
  • Male

    Scottish

    DRUMMOND

    Scottish habitational surname transferred to forename use, derived from Gaelic druim, DRUMMOND means "ridge."

  • Raashida
  • Girl/Female

    Indian

    Raashida

    Rightly guided

  • Zubiya
  • Girl/Female

    Arabic

    Zubiya

    God's Gift

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Other words and meanings similar to

ORPHANET

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  • Orphanet
  • n.

    A little orphan.