TBX6 - T-box transcription factor 6 Gene

Spondylothoracic Dysostosis

SCDO5

Jarcho-Levin Syndrome

Scoliosis, Congenital, With Or Without Rib Anomalies

Tacs

Spondylocostal Dysplasia

Costovertebral Segmentation Anomalies

Spondylocostal Dysostosis 1

Spondylocostal Dysostosis

Spondylothoracic Dysplasia

Scdo1

Spondylocostal Dysostosis 1 Autosomal Recessive

Costovertebral Dysplasia

Scdo

Std

Autosomal Dominant Spondylocostal Dysostosis

Autosomal Dominant Spondylocostal Dysplasia

Doid:0112363

Spondylocostal Dysostosis 4, Autosomal Dominant

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

Dysostoses

Murcs Association

Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2

Mrkh Syndrome Type 2

Mayer-Rokitansky-Küster-Hauser Syndrome Type 2

MURCS

Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina

Atypical Mrkh Syndrome

Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome

Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii

Mrkh, Type Ii

Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia

Klippel-Feil Deformity - Conductive Deafness - Absent Vagina

Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia

Mullerian Duct Failure And Hyperandrogenism

Wnt4 Deficiency

Müllerian Aplasia And Hyperandrogenism

Biason-Lauber Syndrome

Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome

Mayer-Rokitansky-Küster-Hauser-Like Syndrome

Müllerian Duct Failure

Wnt4 Müllerian Aplasia

Wnt4 Müllerian Aplasia And Ovarian Dysfunction

MULLAPL

Wnt4 Mullerian Aplasia And Ovarian Dysfunction

Mrkh Syndrome

Rokitansky Syndrome

Mullerian Aplasia

Mrkh Anomaly

Congenital Absence Of Uterus And Vagina

Congenital Absence Of The Uterus And Vagina

Genital Renal Ear Syndrome

Mayer-Rokitansky-Küster-Hauser Syndrome

Mullerian Dysgenesis

Müllerian Agenesis

Rokitansky Kuster Hauser Syndrome

MRKH

Mullerian Aplasia/Dysgenesis

Von Mayer-Rokitansky-Kuster Anomaly

Mrk Anomaly

Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida

Cauv

Mullerian Agenesis

Aplasia Of The Mullerian Ducts

Mullerian Duct Failure

Müllerian Aplasia

Rokitansky-Kuster-Hauser Syndrome

RKH SYNDROME

SCDO4

Spondylocostal Dysostosis 4

Autosomal Recessive Spondylocostal Dysostosis 4

Doid:0112364

Dysostosis, Spondylocostal, Autosomal Recessive, Type 4

DA2B3

Distal Arthrogryposis Type 2b3

Arthrogryposis, Distal, 2b3

Caudal Regression Syndrome

Caudal Regression Sequence

Sacral Agenesis

Caudal Dysgenesis Syndrome

SDAM

Caudal Dysplasia Sequence

Caudal Dysplasia

Sacral Agenesis Syndrome

Sacral Regression Syndrome

Sacral Defect And Anterior Sacral Meningocele

Rudd Klimek Syndrome

Sirenomelia

Tar Syndrome

Radial Aplasia-Thrombocytopenia Syndrome

Absent Radii And Thrombocytopenia

TAR

Chromosome 1q21.1 Deletion Syndrome, 200-Kb

Thrombocytopenia Absent Radius Syndrome

Thrombocytopenia Absent Radii

Chromosome 1q21.1 Deletion Syndrome

Thrombocytopenia With Absent Radii Syndrome

Radial Aplasia-Amegakaryocytic Thrombocytopenia

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

VACTERLX

X-Linked Vacterl Association

Vacterl-H, X-Linked

Vacterl Association, X-Linked

Vacterl Association, X-Linked With Or Without Hydrocephalus

Vacterl Association X-Linked With Or Without Hydrocephalus

Vacterl Syndrome

Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies

X-Linked Vacterl-H

Vacterl Association

Vacterl Association With Hydrocephalus

Schinzel Syndrome

UMS

Pallister Ulnar-Mammary Syndrome

Ulnar-Mammary Syndrome Of Pallister

Acquired Spondylolysis

Coenuriasis

Cervical Vertebral Fusion

Congenital Dystrophia Brevicollis

Cervical Fusion Syndrome

Klippel-Feil Deformity

Autosomal Dominant Klippel-Feil Syndrome

Congenital Synostosis Of Cervical Vertebrae

Klippel-Feil And Turner Syndrome

Klippel-Feil Deformity, Deafness And Facial Asymmetry

Klippel Feil Syndrome

Cervical Vertebral Fusion Syndrome

Dystrophia Brevicollis Congenita

Fusion Of Cervical Vertebrae

Kfs

Klippel-Feil Sequence

Vertebral Cervical Fusion Syndrome

Klippel-Feil Syndrome, Autosomal Dominant

Klippel-Feil Malformation

Isolated Klippel-Feil Syndrome

Schinzel Phocomelia Syndrome

Aarrs

Limb/Pelvis-Hypoplasia/Aplasia Syndrome

LPHAS

Schinzel Type Phocomelia

Absence Of Ulna And Fibula With Severe Limb Deficiency

Al-Awadi/Raas-Rothschild Syndrome

Al Awadi-Raas-Rothschild Syndrome

Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

Aplasia/Hypoplasia Of Limbs And Pelvis

Congenital Absence Of Ulna And Fibula

Severe Limb Deficit

Phocomelia, Schinzel Type

Al-Awadi-Raas-Rothschild Syndrome

Ulna And Fibula Absence Of With Severe Limb Deficiency

Limb Pelvis Hypoplasia Aplasia Syndrome

Limb/Pelvis/Uterus-Hypoplasia/Aplasia Syndrome

Ulna And Fibula, Absence Of, With Sever Limb Deficiency

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

Autosomal Dominant Spastic Paraplegia 51

Cpsq4

Spastic Quadriplegic Cerebral Palsy 4

Spg51

Spastic Paraplegia 51, Autosomal Recessive

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1