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 →