Testing Criteria

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Testing criteria Disorders Genes Date
Angioedema, Hereditary, Type III
  • Angioedema, Hereditary, Type III
    • Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function
    • Estrogen-Related HAE
    • Estrogen-Sensitive HAE
    • HAE With Normal C1 Inhibitor Concentration And Function
    • Hereditary Angioedema With Normal C1 Inhibitor Activity
  • coagulation factor XII
    • coagulation factor XII (Hageman factor)
    • Hageman factor
2013
Anterior Segment Dysgenesis and Glaucoma 59 Gene Exome Panel
  • Alagille Syndrome 2
  • Amyloidosis, Finnish Type
    • Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy
    • Amyloidosis Due To Mutant Gelsolin
    • Amyloidosis V
    • Corneal Dystrophy, Lattice Type II, Included
    • Finnish Type Amyloidosis
    • Lattice Corneal Dystrophy, Type II, Included
    • Meretoja Type Amyloidosis
  • Aniridia 1
    • Aniridia
    • Aniridia II, Formerly
  • Anterior Segment Dysgenesis 1
    • Anterior Segment Mesenchymal Dysgenesis
    • Anterior Segment Ocular Dysgenesis
  • Anterior Segment Dysgenesis 2
    • Aphakia, Congenital Primary
  • Anterior Segment Dysgenesis 3
    • Iridogoniodysgenesis Anomaly, Autosomal Dominant
    • Iridogoniodysgenesis, Type 1
  • Anterior Segment Dysgenesis 4
    • IRID2
    • Iridogoniodysgenesis Syndrome
    • Iridogoniodysgenesis, Type 2
    • Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant
  • Anterior Segment Dysgenesis 5
    • Peters Anomaly
  • Anterior Segment Dysgenesis 7
  • Axenfeld-Rieger Syndrome, Type 1
    • Rieger Syndrome, Type 1
  • Axenfeld-Rieger Syndrome, Type 3
    • Anterior Chamber Cleavage Syndrome
    • Anterior Segment Mesenchymal Dysgenesis
    • Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/or Sensorineural Hearing Loss
    • Rieger Syndrome, Type 3
  • Bestrophinopathy, Autosomal Recessive
    • Bestrophinopathy
  • Blepharophimosis, Ptosis, And Epicanthus Inversus
    • Bpes With Duane Retraction Syndrome, Included
    • Bpes With Ovarian Failure, Included
    • Bpes Without Ovarian Failure, Included
    • Bpes, Type I, Autosomal Recessive, Included
    • Bpes, Type I, Included
    • Bpes, Type II, Included
  • Brain Small Vessel Disease With Or Without Ocular Anomalies
    • Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
    • Brain Small Vessel Disease With Hemorrhage
    • Infantile Hemiparesis
    • Leukoencephalopathy With Axenfeld-Rieger Anomaly
    • Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant
  • Branchiootic Syndrome 1
    • BO Syndrome 1
    • Branchiootic Dysplasia
  • Branchiootorenal Syndrome 1
    • Bor Syndrome
    • Branchiootorenal Dysplasia
    • Melnick-Fraser Syndrome
  • Brittle Cornea Syndrome 2
  • Cataract 11, Multiple Types
    • Cataract, Posterior Polar, 4
  • Cataract 2, Multiple Types
    • Cataract 2, Multiple Types, With Or Without Microcornea
    • Cataract, Coppock-Like
  • Cataract 47
    • Cataract, Juvenile, With Microcornea And Glucosuria
  • Coloboma Of Optic Nerve
  • Coloboma, Ocular, Autosomal Dominant
    • Coloboma Of Iris, Choroid, And Retina
    • Coloboma, Uveoretinal
  • Cornea Plana 2, Autosomal Recessive
  • Corneal Dystrophy And Perceptive Deafness
    • Corneal Dystrophy And Sensorineural Deafness
    • Harboyan Syndrome
  • Corneal Dystrophy, Avellino Type
    • Acd
    • Avellino Corneal Dystrophy
    • Combined Granular-Lattice Corneal Dystrophy
    • Granular Corneal Dystrophy, Type II
  • Corneal Dystrophy, Congenital Stromal
    • .
  • Corneal Dystrophy, Epithelial Basement Membrane
  • Corneal Dystrophy, Fleck
  • Corneal Dystrophy, Fuchs Endothelial, 1
    • .
  • Corneal Dystrophy, Fuchs Endothelial, 4
    • Corneal Dystrophy, Fuchs Endothelial, Late-Onset
  • Corneal Dystrophy, Fuchs Endothelial, 6
    • Corneal Dystrophy, Fuchs Endothelial, Late-Onset
  • Corneal Dystrophy, Fuchs Endothelial, 8
  • Corneal Dystrophy, Gelatinous Drop-Like
  • Corneal Dystrophy, Groenouw Type I
    • Corneal Dystrophy, Punctate Or Nodular
    • Granular Corneal Dystrophy, Type I
    • Groenouw Type I Corneal Dystrophy
  • Corneal Dystrophy, Lattice Type I
    • Lattice Corneal Dystrophy, Type I
  • Corneal Dystrophy, Lattice Type IIIa
  • Corneal Dystrophy, Meesmann
  • Corneal Dystrophy, Posterior Polymorphous, 1
  • Corneal Dystrophy, Posterior Polymorphous, 2
  • Corneal Dystrophy, Posterior Polymorphous, 3
  • Corneal Dystrophy, Reis-Bucklers Type
    • Corneal Dystrophy Of Bowman Layer, Type I
    • Corneal Dystrophy, Geographic
    • Reis-Bucklers Corneal Dystrophy
  • Corneal Dystrophy, Thiel-Behnke Type
    • Corneal Dystrophy Of Bowman Layer, Type II
    • Corneal Dystrophy, Honeycomb-Shaped
    • Thiel-Behnke Corneal Dystrophy
  • Corneal Endothelial Dystrophy
  • Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
  • Craniolenticulosutural Dysplasia
    • Boyadjiev-Jabs Syndrome
  • Cutis Laxa, Autosomal Recessive, Type IIIA
    • Cutis Laxa, Corneal Clouding, And Mental Retardation
    • De Barsy Syndrome A
    • Progeroid Syndrome Of De Barsy
  • Ectopia Lentis 1, Isolated, Autosomal Dominant
    • Ectopia Lentis, Familial
    • Ectopia Lentis, Isolated
    • Ectopia Lentis, Isolated, Autosomal Dominant
  • EDICT Syndrome
    • Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, And Stromal Thinning Syndrome
    • Keratoconus With Cataract
    • Keratoconus, Familial, With Early-Onset Anterior Polar Cataract
  • Fish-Eye Disease
  • Foveal Hypoplasia 2
  • Frank-Ter Haar Syndrome
    • Borrone Dermatocardioskeletal Syndrome
    • Melnick-Needles Syndrome, Autosomal Recessive, Formerly
    • Ter Haar Syndrome
  • Glaucoma 1, Open Angle, A
    • Glaucoma 1, Open Angle, L, Included
    • Glaucoma, Primary Open Angle, Juvenile-Onset, 1
    • Primary Open Angle Glaucome
  • Glaucoma 1, Open Angle, G
  • Glaucoma 3, Primary Congenital, A
    • Buphthalmos
    • Glaucoma, Congenital
  • Glaucoma 3, Primary Congenital, D
  • Glaucoma, Primary Open Angle
  • Hajdu-Cheney Syndrome
    • Acroosteolysis With Osteoporosis And Changes In Skull And Mandible
    • Arthrodentoosteodysplasia
    • Cheney Syndrome
    • Serpentine Fibula-Polycystic Kidney Syndrome
  • Holoprosencephaly 2
  • Keratoconus 1
  • Lecithin:Cholesterol Acyltransferase Deficiency
  • Macrophthalmia, Colobomatous, With Microcornea
    • .
  • Macular Dystrophy, Corneal
  • Macular Dystrophy, Vitelliform, 2
    • Best Disease
    • Best Macular Dystrophy
    • Macular Degeneration, Polymorphic VItelline
    • Macular Dystrophy, Vitelliform
    • Vitelliform Macular Dystrophy
    • Vitelliform Macular Dystrophy, Early-Onset
    • Vitelliform Macular Dystrophy, Juvenile-Onset
  • Marfan Lipodystrophy Syndrome
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • Martsolf Syndrome
    • Cataract-Mental Retardation-Hypogonadism
  • MASS Syndrome
    • Mass Phenotype
    • Overlap Connective Tissue Disease
  • Megalocornea
  • Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
  • Mucolipidosis III Gamma
    • Ml III Gamma
    • Mucolipidosis III, Complementation Group C
    • Mucolipidosis III, Iranian Variant Form
    • Mucolipidosis III, Variant Form
    • Mucolipidosis IIIc
  • Nail-Patella Syndrome
    • Fong Disease
    • Nps1
    • Onychoosteodysplasia
    • Turner-Kieser Syndrome
  • Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
  • Oculodentodigital Dysplasia
    • Oculodentoosseous Dysplasia
    • Odd Syndrome
  • Oculodentodigital Dysplasia, Autosomal Recessive
    • Oculodentoosseous Dysplasia, Autosomal Recessive
    • ODDD, Autosomal Recessive
    • ODOD, Autosomal Recessive
  • Peroxisome Biogenesis Disorder 5a (Zellweger)
  • Peroxisome Biogenesis Disorder 5b
  • Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
    • Persistent Fetal Vasculature
    • Retinal Nonattachment And Falciform Detachment
    • Retinal Nonattachment, Nonsyndromic Congenital
  • Peters-Plus Syndrome
    • Krause-Kivlin Syndrome
    • Peters Anomaly With Short-Limb Dwarfism
  • Pierson Syndrome
  • Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
  • Retinal Arteries, Tortuosity Of
  • Retinitis Pigmentosa 50
    • Retinitis Pigmentosa, Concentric
  • Ring Dermoid Of Cornea
  • Schnyder Corneal Dystrophy
  • Vitreoretinochoroidopathy
    • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
    • Vitreoretinochoroidopathy, Autosomal Dominant
    • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
  • Waardenburg Syndrome, Type 1
    • Waardenburg Syndrome With Dystopia Canthorum
  • Waardenburg Syndrome, Type 3
    • Klein-Waardenburg Syndrome
    • Waardenburg Syndrome With Upper Limb Anomalies
    • Waardenburg Syndrome, Type III
  • Warburg Micro Syndrome 1
    • Micro Syndrome
  • Warburg Micro Syndrome 2
    • Micro Syndrome 2
  • Warburg Micro Syndrome 3
    • Micro Syndrome 3
  • Warburg Micro Syndrome 4
    • .
  • Weill-Marchesani Syndrome 2
    • Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia-Brachymorphia Syndrome
    • Weill-Marchesani Syndrome, Autosomal Dominant
  • Weill-Marchesani Syndrome 3
  • ADAM metallopeptidase with thrombospondin type 1 motif, 18
    • 0
  • aldehyde dehydrogenase 18 family, member A1
    • pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
  • atonal bHLH transcription factor 7
    • atonal homolog 7 (Drosophila)
    • atonal homolog bHLH transcription factor 7
  • ATP/GTP binding protein like 1
    • CCP4
    • FLJ32310
  • bestrophin 1
    • best disease
    • vmd2 gene
  • beta 3-glucosyltransferase
    • beta 1,3-galactosyltransferase-like
  • bone morphogenetic protein 7
    • OP-1
  • carbohydrate sulfotransferase 6
    • 0
  • chordin like 1
    • CHL
    • NRLN1
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • collagen, type VIII, alpha 2 chain
    • FECD1
    • PPCD
    • PPCD2
  • crystallin, gamma C
    • crystallin, gamma-3
  • cysteine rich transmembrane BMP regulator 1
    • 0
  • cytochrome P450, family 1, subfamily B, member 1
    • cytochrome P450, family 1, subfamily B, polypeptide 1
    • cytochrome p450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
  • decorin
    • DSPG2
    • SLRR1B
  • EYA transcriptional coactivator and phosphatase 1
    • eyes absent 1
    • eyes absent homolog 1 (Drosophila)
    • eyes absent, drosophila, homolog of, 1
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • forkhead box C1
    • forkhead, drosophila, homolog-like 7
    • forkhead-related activator 3
  • forkhead box E3
  • forkhead box L2
    • pituitary forkhead factor, mouse, homolog of
  • gap junction protein, alpha 1
    • gap junction protein, alpha 1, 43kDa
    • gap junction protein, alpha 1, 43kDa (connexin 43)
    • gap junction protein, alpha-like
  • gelsolin
    • gelsolin
    • gelsolin(amyloidosis, finnish type)
  • keratin 12
    • K12
  • keratin 3
    • CK3
    • K3
  • keratocan
    • SLRR2B
  • laminin subunit beta 2
    • laminin s
    • laminin, beta 2 (laminin S)
    • laminin, beta-2
  • latent transforming growth factor beta binding protein 2
    • chromosome 14 open reading frame 141
  • lecithin cholesterol acyltransferase
  • LIM homeobox transcription factor 1, beta
  • microRNA 184
  • myocilin
    • myocilin, trabecular meshwork inducible glucocorticoid response
  • N-acetylglucosamine-1-phosphate transferase, gamma subunit
  • notch 2
    • notch homolog 2 (drosophila)
  • optineurin
    • glaucoma 1, open angle, E (adult-onset)
  • paired box 3
    • paired domain gene hup2
  • paired box 6
    • paired box gene 6
    • paired box gene 6 (aniridia, keratitis)
  • paired-like homeodomain 2
    • all1-responsive gene 1
    • paired-like homeodomain transcription factor 2
    • pituitary homeobox 2
    • rieg bicoid-related homeobox transcription factor 1
  • paired-like homeodomain 3
    • anterior segment mesenchymal dysgenesis
    • paired-like homeodomain transcription factor 3
  • peroxidasin
    • peroxidasin homolog (Drosophila)
  • peroxisomal biogenesis factor 2
    • peroxisomal membrane protein 3 (35kD, Zellweger syndrome)
    • peroxisomal membrane protein 3, 35kDa
  • phosphoinositide kinase, FYVE-type zinc finger containing
    • FAB1
    • KIAA0981
    • MGC40423
    • p235
    • PIKfyve
    • PIP5K
    • ZFYVE29
  • PR/SET domain 5
    • PR domain containing 5
  • RAB18, member RAS oncogene family
  • RAB3 GTPase activating non-catalytic protein subunit 2
    • RAB3 GTPase activating protein subunit 2 (non-catalytic)
  • RAB3 GTPase activating protein catalytic subunit 1
    • RAB3 GTPase activating protein subunit 1 (catalytic)
    • RAB3GAP, 130-kD subunit
    • RAB3GAP, catalytic subunit
    • WARBM1 gene
  • Sec23 homolog A, coat complex II component
    • Sec23 (S. cerevisiae) homolog A
    • Sec23 homolog A (S. cerevisiae)
  • SH3 and PX domains 2B
  • sine oculis binding protein homolog
    • FLJ10159
  • solute carrier family 16 member 12
    • solute carrier family 16 (monocarboxylic acid transporters), member 12
    • solute carrier family 16, member 12 (monocarboxylic acid transporter 12)
  • solute carrier family 38 member 8
    • 0
  • solute carrier family 4 member 11
    • corneal dystrophy and perceptive deafness 1
    • corneal endothelial dystrophy 2 (autosomal recessive)
    • solute carrier family 4, sodium bicarbonate transporter-like, member 11
    • solute carrier family 4, sodium borate transporter, member 11
  • solute carrier family 4 member 4
  • TBC1 domain family member 20
    • dJ852M4.2
  • transforming growth factor, beta-induced
    • beta-ig-h3
    • keratoepithelin
    • transforming growth factor, beta-induced, 68-kd
    • transforming growth factor, beta-induced, 68kDa
  • tumor associated calcium signal transducer 2
    • EGP-1
    • GA733-1
    • TROP2
  • UbiA prenyltransferase domain containing 1
    • TERE1
  • visual system homeobox 1
    • PPCD1
    • PPD
  • WD repeat domain 36
    • TA-WDRP
    • UTP21
  • zinc finger E-box binding homeobox 1
    • AREB6
    • BZP
    • FECD6
    • NIL-2-A
    • ZEB
    • Zfhep
    • Zfhx1a
2017
Aortic Aneurysm, Familial Thoracic, 6 Gene Panel
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2015
Aortic Aneurysm, Familial Thoracic, 9 Gene Panel
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Ehlers-Danlos Syndrome, Hypermobility Type
    • Benign Hypermobility Syndrome
    • Ehlers-Danlos Syndrome, Type III
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Moyamoya Disease 5
  • Multisystemic Smooth Muscle Dysfunction Syndrome
    • Mydriasis, Congenital, With Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, And Vasculopathy
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • potassium calcium-activated channel subfamily N member 1
    • potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1
    • potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • transforming growth factor, beta 2
    • transforming growth factor, beta-2
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2014
Aortic Aneurysm, Familial Thoracic, 9 Gene Panel
  • Adams-Oliver Syndrome 5
    • .
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Aortic Aneurysm, Familial Thoracic 7
    • Aortic Dissection, Familial, With Or Without Aortic Aneurysm
  • Aortic Valve Disease 1
    • Aortic Stenosis, Calcific
    • Aortic Valve Disease
    • Aortic Valve, Bicuspid
    • Aortic Valve, Calcification Of
    • Bicuspid Aortic Valve
  • Arterial Tortuosity Syndrome
    • Arterial Tortuosity
  • Cardiomyopathy, Familial Hypertrophic, 1
    • Asymmetric Septal Hypertrophy
    • Cardiomyopathy, hypertrophic, 1, digenic
    • Cardiomyopathy, Sporadic Hypertrophic, 1, Included
    • Hypertrophic Subaortic Stenosis, Idiopathic
    • Ventricular Hypertrophy, Hereditary
  • Cutis Laxa, Autosomal Dominant 2
  • Cutis Laxa, Autosomal Recessive, Type IB
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
    • JP/HHT Syndrome
    • Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
    • Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
    • Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • MASS Syndrome
    • Mass Phenotype
    • Overlap Connective Tissue Disease
  • Supravalvular Aortic Stenosis
    • Supravalvar Aortic Stenosis, Eisenberg Type
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • EGF containing fibulin-like extracellular matrix protein 2
    • EGF-containing fibulin-like extracellular matrix protein 2
  • elastin
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibrillin 2
    • congenital contractural arachnodactyly
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • myosin light chain kinase
    • myosin, light polypeptide kinase
  • myosin light chain kinase 2
    • myosin light chain kinase 2, skeletal muscle
  • notch 1
    • Notch (Drosophila) homolog 1 (translocation-associated)
    • Notch homolog 1, translocation-associated (Drosophila)
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • SMAD family member 4
    • deleted in pancreatic carcinoma 4
    • mothers against decapentaplegic, drosophila, homolog of, 4
    • SMA- and MADrelated protein 4
    • SMAD, mothers against DPP homolog 4 (drosophila)
  • solute carrier family 2 member 10
    • solute carrier family 2 (facilitated glucose transporter) member 10
  • transforming growth factor, beta 2
    • transforming growth factor, beta-2
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2014
Aortopathy Disorders 11 Gene Panel
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Arterial Tortuosity Syndrome
    • Arterial Tortuosity
  • Arthrogryposis, Distal, Type 9
    • Beals Syndrome
    • Contractural Arachnodactyly, Congenital
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Loeys-Dietz Syndrome 5
    • Rienhoff Syndrome
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibrillin 2
    • congenital contractural arachnodactyly
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • solute carrier family 2 member 10
    • solute carrier family 2 (facilitated glucose transporter) member 10
  • transforming growth factor, beta 2
    • transforming growth factor, beta-2
  • transforming growth factor, beta 3
    • arrhythmogenic right ventricular dysplasia 1
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2015
Aortopathy Disorders 15 Gene Panel
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Aortic Aneurysm, Familial Thoracic 7
    • Aortic Dissection, Familial, With Or Without Aortic Aneurysm
  • Aortic Valve Disease 1
    • Aortic Stenosis, Calcific
    • Aortic Valve Disease
    • Aortic Valve, Bicuspid
    • Aortic Valve, Calcification Of
    • Bicuspid Aortic Valve
  • Arterial Tortuosity Syndrome
    • Arterial Tortuosity
  • Arthrogryposis, Distal, Type 9
    • Beals Syndrome
    • Contractural Arachnodactyly, Congenital
  • Cardiac Valvular Dysplasia, X-Linked
    • Myxomatous Valvular Dystrophy, X-Linked
    • Valvular Heart Disease, Congenital
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • Myhre Syndrome
    • Growth-Mental Deficiency Syndrome Of Myhre
    • Laryngotracheal Stenosis, Arthropathy, Prognathism, And Short Stature
  • Shprintzen-Goldberg Craniosynostosis Syndrome
    • Craniosynostosis with Arachnodactyly and Abdominal Hernias
    • Marfanoid Craniosynostosis Syndrome
    • Marfanoid Disorder with Craniosynostosis, Type I
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibrillin 2
    • congenital contractural arachnodactyly
  • filamin A
    • actin-binding protein 280
    • alpha (actin binding protein 280)
    • filamin 1
    • filamin A
    • filamin A alpha
    • filamin, alpha
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • myosin light chain kinase
    • myosin, light polypeptide kinase
  • notch 1
    • Notch (Drosophila) homolog 1 (translocation-associated)
    • Notch homolog 1, translocation-associated (Drosophila)
  • SKI proto-oncogene
    • v-ski avian sarcoma viral oncogene homolog
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • SMAD family member 4
    • deleted in pancreatic carcinoma 4
    • mothers against decapentaplegic, drosophila, homolog of, 4
    • SMA- and MADrelated protein 4
    • SMAD, mothers against DPP homolog 4 (drosophila)
  • solute carrier family 2 member 10
    • solute carrier family 2 (facilitated glucose transporter) member 10
  • transforming growth factor, beta 2
    • transforming growth factor, beta-2
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2015
Aortopathy Disorders 17 Gene Panel
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Aortic Aneurysm, Familial Thoracic 7
    • Aortic Dissection, Familial, With Or Without Aortic Aneurysm
  • Aortic Valve Disease 1
    • Aortic Stenosis, Calcific
    • Aortic Valve Disease
    • Aortic Valve, Bicuspid
    • Aortic Valve, Calcification Of
    • Bicuspid Aortic Valve
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
    • Arrhythmogenic Right Ventricular Cardiomyopathy 1
  • Arterial Tortuosity Syndrome
    • Arterial Tortuosity
  • Arthrogryposis, Distal, Type 9
    • Beals Syndrome
    • Contractural Arachnodactyly, Congenital
  • Cardiac Valvular Dysplasia, X-Linked
    • Myxomatous Valvular Dystrophy, X-Linked
    • Valvular Heart Disease, Congenital
  • Cutis Laxa, Autosomal Recessive, Type IB
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
    • JP/HHT Syndrome
    • Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
    • Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
    • Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • Shprintzen-Goldberg Craniosynostosis Syndrome
    • Craniosynostosis with Arachnodactyly and Abdominal Hernias
    • Marfanoid Craniosynostosis Syndrome
    • Marfanoid Disorder with Craniosynostosis, Type I
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • EGF containing fibulin-like extracellular matrix protein 2
    • EGF-containing fibulin-like extracellular matrix protein 2
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibrillin 2
    • congenital contractural arachnodactyly
  • filamin A
    • actin-binding protein 280
    • alpha (actin binding protein 280)
    • filamin 1
    • filamin A
    • filamin A alpha
    • filamin, alpha
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • myosin light chain kinase
    • myosin, light polypeptide kinase
  • notch 1
    • Notch (Drosophila) homolog 1 (translocation-associated)
    • Notch homolog 1, translocation-associated (Drosophila)
  • SKI proto-oncogene
    • v-ski avian sarcoma viral oncogene homolog
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • SMAD family member 4
    • deleted in pancreatic carcinoma 4
    • mothers against decapentaplegic, drosophila, homolog of, 4
    • SMA- and MADrelated protein 4
    • SMAD, mothers against DPP homolog 4 (drosophila)
  • solute carrier family 2 member 10
    • solute carrier family 2 (facilitated glucose transporter) member 10
  • transforming growth factor, beta 2
    • transforming growth factor, beta-2
  • transforming growth factor, beta 3
    • arrhythmogenic right ventricular dysplasia 1
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2015
Aortopathy Disorders 19 Gene Panel
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Arterial Tortuosity Syndrome
    • Arterial Tortuosity
  • Arthrogryposis, Distal, Type 9
    • Beals Syndrome
    • Contractural Arachnodactyly, Congenital
  • Ectopia Lentis 2, Isolated, Autosomal Recessive
  • Ectopia Lentis Et Pupillae
    • Ectopia Lentis With Ectopia Of Pupil
  • Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form
  • Ehlers-Danlos Syndrome, Classic Type
    • Eds I
    • Ehlers-Danlos Syndrome, Gravis Type
    • Ehlers-Danlos Syndrome, Severe Classic Type
    • Ehlers-Danlos Syndrome, Type I
  • Ehlers-Danlos Syndrome, Hypermobility Type
    • Benign Hypermobility Syndrome
    • Ehlers-Danlos Syndrome, Type III
  • Ehlers-Danlos Syndrome, Type II
    • Ehlers Danlos Syndrome, Mild Classic Type
    • Ehlers Danlos Syndrome, Mitis Type
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
    • Arthrochalasis Multiplex Congenita EDS VII, Mutant Procollagen Type
    • EDS VIIB, Included
    • EDS7B, Included
    • Ehlers-Danlos Syndrome, Arthrochalasia Type Eds VIIA
  • Geleophysic Dysplasia 1
  • Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
    • Cbs Deficiency
    • Cystathionine Beta-Synthase Deficiency
    • Homocystinuria
    • Homocystinuria With Or Without Response To Pyridoxine
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • Osteogenesis Imperfecta, Type I
    • Oi, Type I
    • Osteogenesis Imperfecta Tarda
    • Osteogenesis Imperfecta With Blue Sclerae
  • Osteogenesis Imperfecta, Type II
    • Oi, Type II
    • Osteogenesis Imperfecta Congenita
    • Osteogenesis Imperfecta Congenita, Neonatal Lethal Form
    • Vrolik Type Of Osteogenesis Imperfecta
  • Osteogenesis Imperfecta, Type III
    • Oi, Type III
    • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae
  • Osteogenesis Imperfecta, Type IV
    • Oi, Type IV
    • Osteogenesis Imperfecta With Normal Sclerae
  • Weill-Marchesani Syndrome 1
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia-Brachymorphia Syndrome
    • Weill-Marchesani Syndrome, Autosomal Recessive
  • Weill-Marchesani-Like Syndrome
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • ADAM metallopeptidase with thrombospondin type 1 motif, 10
    • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10
  • ADAM metallopeptidase with thrombospondin type 1 motif, 17
    • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17
  • ADAMTS-like 2
    • 0
  • ADAMTS-like 4
    • thrombospondin repeat containing 1
  • collagen, type I, alpha 1
    • COL1A1/PDGFB fusion gene, included
    • collagen of skin, tendon, and bone, alpha-1 chain
    • collagen, type I, alpha-1
  • collagen, type I, alpha 2 chain
    • collagen of skin, tendon, and bone, alpha-2 chain
    • collagen, type I, alpha 2
    • collagen, type I, alpha-2
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • collagen, type V, alpha 1
    • alpha 1 type v collagen
  • collagen, type V, alpha 2 chain
    • ab collagen
    • collagen, fetal membrane, a polypeptide
    • collagen, type V, alpha 2
  • cystathionine-beta-synthase
    • 0
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibrillin 2
    • congenital contractural arachnodactyly
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • solute carrier family 2 member 10
    • solute carrier family 2 (facilitated glucose transporter) member 10
  • transforming growth factor, beta 2
    • transforming growth factor, beta-2
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2015
Aortopathy Disorders 21 Gene Panel
  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Aortic Aneurysm, Familial Thoracic 7
    • Aortic Dissection, Familial, With Or Without Aortic Aneurysm
  • Aortic Aneurysm, Familial Thoracic 8
  • Aortic Aneurysm, Familial Thoracic 9
    • Aortic Aneurysm, Thoracic, With or Without Aortic Dissection
  • Aortic Valve Disease 1
    • Aortic Stenosis, Calcific
    • Aortic Valve Disease
    • Aortic Valve, Bicuspid
    • Aortic Valve, Calcification Of
    • Bicuspid Aortic Valve
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
    • Arrhythmogenic Right Ventricular Cardiomyopathy 1
  • Arterial Tortuosity Syndrome
    • Arterial Tortuosity
  • Arthrogryposis, Distal, Type 9
    • Beals Syndrome
    • Contractural Arachnodactyly, Congenital
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Heterotopia, Periventricular, Ehlers-Danlos Variant
    • Periventricular Nodular Heterotopia 4
  • Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
    • Cbs Deficiency
    • Cystathionine Beta-Synthase Deficiency
    • Homocystinuria
    • Homocystinuria With Or Without Response To Pyridoxine
  • Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
    • JP/HHT Syndrome
    • Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
    • Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
    • Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
  • Loeys-Dietz Syndrome 1
    • Aortic Aneurysm, Familial Thoracic 5
    • Furlong Syndrome
    • Loeys-Dietz Aortic Aneurysm Syndrome
    • Loeys-Dietz Syndrome, type 1
  • Loeys-Dietz Syndrome 2
    • Loeys-Dietz Syndrome, Type 2
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Loeys-Dietz Syndrome 5
    • Rienhoff Syndrome
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • Multisystemic Smooth Muscle Dysfunction Syndrome
    • Mydriasis, Congenital, With Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, And Vasculopathy
  • Shprintzen-Goldberg Craniosynostosis Syndrome
    • Craniosynostosis with Arachnodactyly and Abdominal Hernias
    • Marfanoid Craniosynostosis Syndrome
    • Marfanoid Disorder with Craniosynostosis, Type I
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • collagen, type I, alpha 1
    • COL1A1/PDGFB fusion gene, included
    • collagen of skin, tendon, and bone, alpha-1 chain
    • collagen, type I, alpha-1
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • cystathionine-beta-synthase
    • 0
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibrillin 2
    • congenital contractural arachnodactyly
  • filamin A
    • actin-binding protein 280
    • alpha (actin binding protein 280)
    • filamin 1
    • filamin A
    • filamin A alpha
    • filamin, alpha
  • GATA binding protein 5
  • microfibril associated protein 5
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • myosin light chain kinase
    • myosin, light polypeptide kinase
  • notch 1
    • Notch (Drosophila) homolog 1 (translocation-associated)
    • Notch homolog 1, translocation-associated (Drosophila)
  • protein kinase, cGMP-dependent, type I
  • SKI proto-oncogene
    • v-ski avian sarcoma viral oncogene homolog
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • SMAD family member 4
    • deleted in pancreatic carcinoma 4
    • mothers against decapentaplegic, drosophila, homolog of, 4
    • SMA- and MADrelated protein 4
    • SMAD, mothers against DPP homolog 4 (drosophila)
  • solute carrier family 2 member 10
    • solute carrier family 2 (facilitated glucose transporter) member 10
  • transforming growth factor, beta 2
    • transforming growth factor, beta-2
  • transforming growth factor, beta 3
    • arrhythmogenic right ventricular dysplasia 1
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2015

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