about
X-linked nonsyndromic deafnessnon-syndromic X-linked intellectual disabilityX-linked cerebellar ataxiaX linked thrombocytopeniaX-linked cleft palate with or without ankyloglossiaX-linked dominant diseaseX-linked recessive diseaseX chromosome number anomalychromosome X structural anomalyautism, susceptibility to, X-linked 1autism, susceptibility to, X-linked 3autism, susceptibility to, X-linked 5epsilon-trimethyllysine hydroxylase deficiencyneural tube defects, X-linkedSilver-Russell syndrome, X-linkedovarian dysgenesis 2X-linked congenital stationary night blindnessX-linked intellectual disability
P279
X-linked disorders with cerebellar dysgenesisIPEX as a result of mutations in FOXP3Angioma serpiginosum: report of an unusual acral case and review of the literatureDAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseCongenital generalized hypertrichosis: the skin as a clue to complex malformation syndromesInduced knockouts provide insights into human L1 syndromeAssociation of PRPS1 Mutations with Disease PhenotypesExpression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Simpson-Golabi-Behmel syndrome types I and II.Splice-correction strategies for treatment of X-linked agammaglobulinemia.The inheritance of pathogenic mitochondrial DNA mutations.A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.Antidepressant-induced Dopamine Receptor Dysregulation: A Valid Animal Model of Manic-Depressive Illness.CHRONIC RETICULOENDOTHELIAL CELL STORAGE DISEASEEfficacy and Safety Study of MSRD-100 in Subjects With Atopic Dermatitis >=3 Months of Age and Older (2016-01-27)Study of Infigratinib in Children With AchondroplasiaStudy to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophilia AThe Expanded Access Use of Viltolarsen in Duchenne Muscular Dystrophy With Confirmed Exon 53 Amenable Mutation[Nephrogenic syndrome of inappropriate antidiuresis]
P921
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P279
Q21202871-1539A1B9-4D1B-41B5-BE23-53E10267AF18Q21342967-4C49E52C-F315-410F-8D94-8C7D18FDC663Q26796591-62876193-BD79-4A6C-B45F-B04105D1CAD7Q26798022-F28B334B-7E42-4FFC-9437-7527F06626E0Q26799089-ABE524D0-BDA0-43E3-BBC5-50462999C683Q28066836-FA29B676-C338-47F5-8719-B1B69071405FQ28080625-B0BD01EB-7B8F-4507-802A-FD89800BB504Q33930719-F400C92A-ECED-46C5-B14D-010119309289Q34623852-E46B8A75-9078-4786-AA37-818913E73BBCQ35033817-1C4DB68D-8C75-411E-8C63-79D07BFC22E0Q37419954-2F1BB2FB-910B-48D6-A0E9-1EDD6D369C92Q37545641-1fcec4c2-4075-cc4d-fe33-d16e58166dfdQ53610589-5463FC33-EA68-4347-9BE1-588169E4DC37Q57971968-cf8faa42-4a6e-55d0-84c9-17bb3b463372Q86158933-59DE1DFD-A86C-485A-AF30-3D1A5DCABE51Q86313355-0151B605-BC5F-4832-8C5A-742FEB524F17Q89154502-AD916FBC-5B06-40B4-A8DC-1F7729B01C9AQ90693529-D5DBBF2C-DE40-46F2-B6C8-E45C9BE89418Q91939949-7D643462-319D-4275-8432-65597A7FBBD0
P921
description
Krankheit
@de
enfermedad monogénica que se origina por mutaciones en genes en el cromosoma X
@es
malsano kaŭzita de mutacio en X-kromosomo
@eo
monogenic disease that has material basis in mutations in genes on the X chromosome
@en
name
X-bunden sjukdom
@nn
X-ligita malsano
@eo
X-linked disease
@en
enfermedad ligada al cromosoma X
@es
maladie liée au chromosome X
@fr
malaltia lligada al cromosoma X
@ca
type
label
X-bunden sjukdom
@nn
X-ligita malsano
@eo
X-linked disease
@en
enfermedad ligada al cromosoma X
@es
maladie liée au chromosome X
@fr
malaltia lligada al cromosoma X
@ca
altLabel
Disease, X-Linked Genetic
@en
Diseases, X-Linked Genetic
@en
Genetic Disease, X-Linked
@en
Genetic Diseases, X Chromosome Linked
@en
Genetic Diseases, X Linked
@en
Genetic Diseases, X-Chromosome Linked
@en
X Linked Genetic Diseases
@en
X-Linked Genetic Disease
@en
X-Linked Genetic Diseases
@en
X-linked hereditary disease
@en
prefLabel
X-bunden sjukdom
@nn
X-ligita malsano
@eo
X-linked disease
@en
enfermedad ligada al cromosoma X
@es
maladie liée au chromosome X
@fr
malaltia lligada al cromosoma X
@ca
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P1995
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P5270
MONDO:0000425
P672
C16.320.322
P699
DOID:0050735