X

192 rare conditions. 42 with a recruiting study in our latest snapshot.

OBSOLETE: X chromosome anomalyRetired termView → OBSOLETE: X-linked acrogigantism due to a point mutationRetired termView → OBSOLETE: X-linked acrogigantism due to Xq26 microduplicationRetired termView → OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major featureRetired termView → OBSOLETE: X-linked dominant intellectual disability-epilepsy syndromeNeurologicalRetired termView → OBSOLETE: X-linked intellectual disability-obesity-short stature syndromeRetired termView → OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndromeRetired termView → OBSOLETE: X-linked intellectual disability, Martinez typeRetired termView → OBSOLETE: X-linked intellectual disability, Raynaud typeRetired termView → OBSOLETE: X-linked intellectual disability, Schutz typeRetired termView → OBSOLETE: X-linked intellectual disability, Wittner typeRetired termView → OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiencyRetired termView → OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiencyRetired termView → OBSOLETE: X-linked Opitz G/BBB syndromeRetired termView → OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathyRetired termView → OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndromeRetired termView → OBSOLETE: X-linked recessive optic atrophyRetired termView → OBSOLETE: X-linked retinal dysplasiaOphthalmologicalRetired termView → OBSOLETE: X-linked syndromic intellectual disabilityRetired termView → OBSOLETE: Xeroderma pigmentosum complementation group ADermatologicalRetired termView → OBSOLETE: Xeroderma pigmentosum complementation group BDermatologicalRetired termView → OBSOLETE: Xeroderma pigmentosum complementation group CDermatologicalRetired termView → OBSOLETE: Xeroderma pigmentosum complementation group DDermatologicalRetired termView → OBSOLETE: Xeroderma pigmentosum complementation group EDermatologicalRetired termView → OBSOLETE: Xeroderma pigmentosum complementation group FDermatologicalRetired termView → OBSOLETE: Xeroderma pigmentosum complementation group GDermatologicalRetired termView → X and Y chromosomal anomaly syndromeGroupView → X chromosome number anomaly syndromeGroupView → X chromosome number anomaly with female phenotype syndromeGroupView → X chromosome number anomaly with male phenotype syndromeGroupView → X small rings syndromeView → X-linked acrogigantism1 recruitingView → X-linked adrenal hypoplasia congenita1 recruitingRenalView → X-Linked Agammaglobulinemia1 recruitingImmuneView → X-linked alpha-thalassemia-intellectual disability syndrome2 recruitingBloodView → X-linked Alport syndrome3 recruitingView → X-linked Alport syndrome-diffuse leiomyomatosisView → X-linked calvarial hyperostosisView → X-linked central congenital hypothyroidism with late-onset testicular enlargementEndocrineView → X-linked cerebellar ataxiaNeurologicalGroupView → X-linked cerebral adrenoleukodystrophy13 recruitingNeurologicalView → X-linked cerebral-cerebellar-coloboma syndromeNeurologicalView → X-linked Charcot-Marie-Tooth disease type 14 recruitingView → X-linked Charcot-Marie-Tooth disease type 23 recruitingView → X-linked Charcot-Marie-Tooth disease type 32 recruitingView → X-linked Charcot-Marie-Tooth disease type 41 recruitingView → X-linked Charcot-Marie-Tooth disease type 53 recruitingView → X-linked Charcot-Marie-Tooth disease type 62 recruitingView → X-linked cleft palate and ankyloglossiaView → X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndromeOphthalmologicalView → X-linked combined immunodeficiency due to SASH3 deficiencyImmuneView → X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiencyImmuneView → X-linked complicated corpus callosum dysgenesisView → X-linked complicated spastic paraplegia type 1View → X-linked cone dysfunction syndrome with myopiaView → X-linked congenital generalized hypertrichosisView → X-linked corneal dermoidOphthalmologicalView → X-linked creatine transporter deficiency3 recruitingView → X-linked distal hereditary motor neuropathyGroupView → X-linked distal myopathyNeuromuscularGroupView → X-linked distal spinal muscular atrophy type 31 recruitingNeuromuscularView → X-linked dominant chondrodysplasia punctataView → X-linked dominant chondrodysplasia, Chassaing-Lacombe typeView → X-linked dyserythropoietic anemia with abnormal platelets and neutropeniaBloodView → X-linked dystonia-parkinsonismNeurologicalView → X-linked Ehlers-Danlos syndromeConnective TissueView → X-linked Emery-Dreifuss muscular dystrophy2 recruitingNeuromuscularView → X-linked endothelial corneal dystrophyOphthalmologicalView → X-linked epilepsy-learning disabilities-behavior disorders syndromeNeurologicalView → X-linked erythropoietic protoporphyria2 recruitingBloodView → X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndromeView → X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityView → X-linked fetal akinesia syndromeView → X-linked hereditary sensory and autonomic neuropathy with deafness1 recruitingView → X-linked hyper-IgM syndrome4 recruitingImmuneView → X-linked hypohidrotic ectodermal dysplasia1 recruitingDermatologicalView → X-Linked Hypophosphatemia5 recruitingConnective TissueView → X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiencyView → X-linked immunoneurologic disorderView → X-linked intellectual disability due to GRIA3 mutationsView → X-linked intellectual disability with isolated growth hormone deficiencyView → X-linked intellectual disability-acromegaly-hyperactivity syndromeEndocrineView → X-linked intellectual disability-ataxia-apraxia syndrome1 recruitingNeurologicalView → X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeView → X-linked intellectual disability-cerebellar hypoplasia syndrome1 recruitingNeurologicalView → X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeNeurologicalView → X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndromeView → X-linked intellectual disability-craniofacioskeletal syndromeView → X-linked intellectual disability-cubitus valgus-dysmorphism syndromeView → X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeNeurologicalView → X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome4 recruitingView → X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndromeNeurologicalView → X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeView → X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndromeView → X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndromeDermatologicalView → X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeView → X-linked intellectual disability-hypotonia-movement disorder syndromeView → X-linked intellectual disability-hypotonic face syndromeView → X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiencyOphthalmologicalView → X-linked intellectual disability-macrocephaly-macroorchidism syndrome4 recruitingView → X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndromeView → X-linked intellectual disability-plagiocephaly syndromeView → X-linked intellectual disability-psychosis-macroorchidism syndromeView → X-linked intellectual disability-retinitis pigmentosa syndrome3 recruitingOphthalmologicalView → X-linked intellectual disability-seizures-psoriasis syndromeNeurologicalView → X-linked intellectual disability-short stature-overweight syndromeView → X-linked intellectual disability-spastic paraplegia with iron deposits syndromeView → X-linked intellectual disability-spastic quadriparesis syndromeView → X-linked intellectual disability, Abidi typeView → X-linked intellectual disability, Armfield typeView → X-linked intellectual disability, Brooks typeView → X-linked intellectual disability, Cabezas typeView → X-linked intellectual disability, Cantagrel typeView → X-linked intellectual disability, Cilliers typeView → X-linked intellectual disability, Fichera typeView → X-linked intellectual disability, Golabi-Ito-Hall typeView → X-linked intellectual disability, Gu typeView → X-linked intellectual disability, Hedera typeView → X-linked intellectual disability, Miles-Carpenter typeView → X-linked intellectual disability, Najm typeView → X-linked intellectual disability, Nascimento typeView → X-linked intellectual disability, Pai typeView → X-linked intellectual disability, Porteous typeView → X-linked intellectual disability, Raymond typeView → X-linked intellectual disability, Schimke typeView → X-linked intellectual disability, Seemanova typeView → X-linked intellectual disability, Shashi typeView → X-linked intellectual disability, Shrimpton typeView → X-linked intellectual disability, Siderius typeView → X-linked intellectual disability, Snyder type1 recruitingView → X-linked intellectual disability, Stevenson typeView → X-linked intellectual disability, Stocco Dos Santos typeView → X-linked intellectual disability, Stoll typeView → X-linked intellectual disability, Sutherland-Haan typeView → X-linked intellectual disability, Turner type1 recruitingView → X-linked intellectual disability, Van Esch typeView → X-linked intellectual disability, Vitale typeView → X-linked intellectual disability, Wilson typeView → X-linked intellectual disability, Wittwer typeView → X-linked intellectual disability, Zorick typeView → X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeView → X-linked lethal multiple pterygium syndromeView → X-linked lissencephaly with abnormal genitaliaNeurologicalView → X-linked lymphoproliferative disease due to SAP deficiencyView → X-linked lymphoproliferative disease due to XIAP deficiencyView → X-linked mandibulofacial dysostosisConnective TissueView → X-linked mendelian susceptibility to mycobacterial diseases1 recruitingView → X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeView → X-linked mixed deafness with perilymphatic gusherView → X-linked myopathy with excessive autophagyNeuromuscularView → X-linked myopathy with postural muscle atrophyNeuromuscularView → X-linked myotubular myopathy-abnormal genitalia syndromeNeuromuscularView → X-linked neurodegenerative syndrome, Bertini typeNeurologicalView → X-linked neurodegenerative syndrome, Hamel typeNeurologicalView → X-linked non progressive cerebellar ataxia1 recruitingNeurologicalView → X-linked non-syndromic intellectual disability1 recruitingView → X-linked osteoporosis with fracturesView → X-linked parkinsonism-spasticity syndromeNeurologicalView → X-linked progressive cerebellar ataxia4 recruitingNeurologicalView → X-linked recessive ocular albinismView → X-linked reticulate pigmentary disorderView → X-Linked Retinoschisis6 recruitingOphthalmologicalView → X-linked scapuloperoneal muscular dystrophyNeuromuscularView → X-linked severe congenital neutropenia2 recruitingBloodView → X-linked severe syndromic thoracic aortic aneurysm and dissectionView → X-linked sideroblastic anemiaBloodView → X-linked sideroblastic anemia and spinocerebellar ataxiaNeurologicalView → X-linked skeletal dysplasia-intellectual disability syndrome3 recruitingConnective TissueView → X-linked spastic paraplegia type 16View → X-linked spastic paraplegia type 34View → X-linked spasticity-intellectual disability-epilepsy syndrome2 recruitingNeurologicalView → X-linked spinocerebellar ataxia type 31 recruitingNeurologicalView → X-linked spinocerebellar ataxia type 41 recruitingNeurologicalView → X-linked spondyloepimetaphyseal dysplasiaConnective TissueView → X-linked thrombocytopenia with normal platelets3 recruitingBloodView → Xanthinuria type I1 recruitingView → Xanthinuria type II1 recruitingView → Xanthoma disseminatumView → Xeroderma Pigmentosum2 recruitingDermatologicalView → Xeroderma pigmentosum variantDermatologicalView → Xeroderma pigmentosum-Cockayne syndrome complexDermatologicalView → XK aprosencephaly syndromeView → XMENView → Xp21 deletion syndromeView → Xp22.13p22.2 duplication syndromeView → Xp22.3 microdeletion syndromeView → Xq12-q13.3 duplication syndromeView → Xq21 microdeletion syndromeView → Xq25 microduplication syndromeView → Xq27.3q28 duplication syndromeView → XY type gonadal dysgenesis-associated anomalies syndrome3 recruitingView → XYLT1-CDGView →