XYLT1 - xylosyltransferase 1 Gene

Baratela-Scott Syndrome

DBQD2

Dysplasia, Desbuquois, Type 2

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Desbuquois Syndrome

DBQD1

Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

Dbqd

Desbuquois Dysplasia

Micromelic Dwarfism, Narrow Chest, Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

Dysplasia, Desbuquois, Type 1

Desbuquois Syndrome

Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

Dysplasia, Desbuquois

SEMDJL1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Semdjl

Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures

Semdjl-Beighton Type

Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

Semdjl

Spondyloepimetaphyseal Dysplasia Joint Laxity

Semd-Jl

Semdjl1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Preaxial Brachydactyly Syndrome, Temtamy Type

TPBS

Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

Preaxial Brachydactyly Syndrome Temtamy Type

SCTS

Bdplt7

Prothrombin Consumption Deficiency

Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

Bleeding Disorder, Platelet-Type, 7

Prothrombin Conversion Defect, Familial

Prothrombin Consumption Inhibitor, Familial

Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

Familial Prothrombin Consumption Inhibitor

Familial Prothrombin Conversion Defect

Platelet-Type Bleeding Disorder 7

Platelet Factor X Receptor Deficiency

Bleeding Disorder Platelet-Type 7

Prothrombin Consumption Inhibitor Familial

Prothrombin Conversion Defect Familial

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome

Larsen-Like Syndrome, B3gat3 Type

Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

HPE5

Holoprosencephaly-5

Holoprosencephaly, Type 5

Mucopolysaccharidosis Type Iiic

MPS3C

Mps Iiic

Sanfilippo Syndrome C

Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency

Hgsnat Deficiency

Mpsiiic

Mucopolysaccharidosis Type 3c

Sanfilippo Syndrome Type C

Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency

Mucopoly-Saccharidosis Type 3c

Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency

Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency

Mps 3c

Mps Iii-C

Mucopolysaccharidosis 3c

Mucopolysaccharidosis Iii

Mps Iii C

Radio-Ulnar Synostosis Type 1

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Mucopolysaccharidosis Type Iiia

MPS3A

Mps Iiia

Sanfilippo Syndrome A

Heparan Sulfate Sulfatase Deficiency

Sulfamidase Deficiency

Heparan Sulfamidase Deficiency

Mpsiiia

Mucopolysaccharidosis Type 3a

Sanfilippo Syndrome Type A

Mucopolysaccharidosis Iii-A

Heparane Sulfamidase Deficiency

Mps 3a

Mucopoly-Saccharidosis Type 3a

Mps Iii-A

Mucopolysaccharidosis 3a

Mucopolysaccharidosis Iii

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1