| Diseases |
Alias |
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 3
|
Saldino-Noonan Syndrome
|
|
SRTD3
|
Atd3
|
|
Srps1
|
Srps3
|
|
Verma-Naumoff Syndrome
|
Srps2b
|
|
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
|
Short Rib-Polydactyly Syndrome, Type I
|
|
Polydactyly With Neonatal Chondrodystrophy, Type I
|
Polydactyly With Neonatal Chondrodystrophy, Type Iii
|
|
Short Rib-Polydactyly Syndrome, Type Iib
|
Short Rib-Polydactyly Syndrome Type 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type Iii
|
Short Rib-Polydactyly Syndrome Type Iii
|
|
Short Rib-Polydactyly Syndrome Type 1
|
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
|
|
Majewski Syndrome
|
Short Rib-Polydactyly Syndrome, Type Iii
|
|
Type I Short Rib Polydactyly Syndrome
|
Srps Type 3
|
|
Short Rib Polydactyly Syndrome Verma Naumoff Type
|
Verma Naumoff Syndrome
|
|
Polydactyly With Neonatal Chondrodystrophy Type 1
|
Srps Type 1
|
|
Short Rib-Polydactyly Syndrome Saldino-Noonan Type
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Jeune Syndrome 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type I
|
Short Rib-Polydactyly Syndrome Type I
|
|
Short Rib-Polydactyly Syndrome Type Iib
|
Srps Type Iib
|
|
Srps Type Iii
|
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 1
|
Jeune Syndrome
|
|
SRTD1
|
Atd1
|
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Atd
|
Asphyxiating Thoracic Dystrophy
|
|
Chondroectodermal Dysplasia-Like Syndrome
|
Infantile Thoracic Dystrophy
|
|
Jeune'S Syndrome
|
Thoracic Pelvic Phalangeal Dystrophy
|
|
Jeune Thoracic Dystrophy
|
|
|
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Majewski Syndrome
|
SRTD6
|
|
Srps2a
|
Short Rib-Polydactyly Syndrome, Majewski Type
|
|
Polydactyly With Neonatal Chondrodystrophy, Type Ii
|
Short Rib-Polydactyly Syndrome Type Iia
|
|
Short Rib-Polydactyly Syndrome Type 2
|
Short Rib-Polydactyly Syndrome Type Ii
|
|
Short Rib-Polydactyly Syndrome, Type Ii
|
Srps, Type Ii
|
|
Short Rib-Polydactyly Syndrome, Type Iia
|
Polydactyly With Neonatal Chondrodystrophy Type 2
|
|
Srps Type 2
|
Short Rib-Polydactyly Syndrome Majewski Type
|
|
Polydactyly With Neonatal Chondrodystrophy Type Ii
|
Short Rib-Polydactyly Syndrome 2a
|
|
Srps Type Ii
|
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
|
Asphyxiating Thoracic Dysplasia
|
Short-Rib Thoracic Dysplasia With Or Without Polydactyly
|
|
Thoracic Pelvic Phalangeal Dystrophy
|
Asphyxiating Thoracic Chondrodystrophy
|
|
Atd
|
Chondroectodermal Dysplasia-Like Syndrome
|
|
Infantile Thoracic Dystrophy
|
Jeune Thoracic Dysplasia
|
|
Thoracic Asphyxiant Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Short-Rib Thoracic Dysplasia Without Polydactyly
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
|
Asphyxiating Thorax Dystrophy
|
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Autosomal Recessive Polycystic Kidney Disease
|
Arpkd
|
|
Polycystic Kidney Disease, Autosomal Recessive
|
Polycystic Kidney And Hepatic Disease 1
|
|
Pkhd1
|
PKD4
|
|
Polycystic Kidney Disease 4 With Or Without Hepatic Disease
|
Polycystic Kidney Disease, Infantile, Type I
|
|
Polycystic Kidney Disease, Infantile Type
|
Polycystic Kidney, Autosomal Recessive
|
|
Pkd3, Formerly
|
Polycystic Kidney Disease 4, With Or Without Hepatic Disease
|
|
Arpkd/Chf
|
Ar-Pkd
|
|
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease
|
Infantile Polycystic Kidney Disease Type I
|
|
Pkd3
|
Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
|
|
Polycystic Kidney Disease 3, Autosomal Dominant
|
|
|
| Short-Rib Thoracic Dysplasia 12 |
|
Beemer-Langer Syndrome
|
Type Iv Short Rib Polydactyly Syndrome
|
|
Short Rib-Polydactyly Syndrome Type 4
|
Short Rib-Polydactyly Syndrome, Beemer Type
|
|
SRTD12
|
Short Rib-Polydactyly Syndrome, Type Iv
|
|
Srps4
|
Srps Iv
|
|
Short Rib Syndrome, Beemer Type
|
Beemer Langer Syndrome
|
|
Srps Type 4
|
Short Rib Polydactyly Syndrome Beemer-Langer Type
|
|
Short Rib-Polydactyly Syndrome Beemer Type
|
Short Rib-Polydactyly Syndrome Type Iv
|
|
Short Rib-Polydactyly Syndrome, Beemer-Langer Type
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Short Rib-Polydactyly Syndrome |
|
|
| Lung Disease |
|
Lung Diseases
|
Disorder Of Lung
|
|
Abnormality Of The Lung
|
|
|
| Newborn Respiratory Distress Syndrome |
|
Hyaline Membrane Disease
|
Respiratory Distress Syndrome Of Newborn
|
|
Neonatal Respiratory Distress
|
Hmd - Hyaline Membrane Disease
|
|
Neonatal Respiratory Distress Syndrome
|
Pulmonary Hyaline Membrane Disease
|
|
Pulmonary Hypoperfusion Syndrome Of Newborn
|
Respiratory Distress Syndrome, Newborn
|
|
Respiratory Distress Syndrome
|
Cardiorespiratory Distress Syndrome Of Newborn
|
|
Distress Respiratory Syndrome Newborn
|
Idiopathic Respiratory Distress Syndrome
|
|
Idiopathic Respiratory Distress Syndrome Of Newborn
|
Newborn Idiopathic Respiratory Distress Syndrome
|
|
Respiratory Distress Syndrome In Newborn
|
Rds - [Respiratory Distress Syndrome] Of Newborn
|
|
Newborn Cardiorespiratory Distress Syndrome
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Primary Bone Dysplasia |
|
Primary Osteodysplasia
|
Primary Skeletal Dysplasia
|
|
|
| Heart, Malformation Of |
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Weyers Acrofacial Dysostosis |
|
Curry-Hall Syndrome
|
Weyers Acrodental Dysostosis
|
|
WAD
|
Acrodental Dysostosis Of Weyers
|
|
Acrofacial Dysostosis, Weyers Type
|
Acrofacial Dysostosis Of Weyers
|
|
Curry Hall Syndrome
|
|
|
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
SRTD10
|
Short-Rib Thoracic Dysplasia 10 Without Polydactyly
|
|
Short Rib-Polydactyly Syndrome
|
|
|
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
MVA2
|
Mosaic Variegated Aneuploidy Syndrome, Type 2
|
|
|
| Fibromuscular Dysplasia |
|
|
| Spinal Muscular Atrophy With Lower Extremity Predominant |
|
Spinal Muscular Atrophy With Lower Extremity Predominance
|
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
|
|
Kugelberg-Welander Syndrome, Autosomal Dominant
|
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
|
|
Sma-Led
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
|
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant
|
|
Spinal Muscular Atrophy, Lower Extremity, Dominant
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| Polyhydramnios |
|
|
| Achondrogenesis, Type Ia |
|
Achondrogenesis Type Ia
|
Achondrogenesis Type 1a
|
|
ACG1A
|
Achondrogenesis, Houston-Harris Type
|
|
Achondrogenesis Houston-Harris Type
|
Achondrogenesis 1a
|
|
Acg-Ia
|
|
|
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
|
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
SRTD8
|
Srps6
|
|
Short Rib-Polydactyly Syndrome Type Vi
|
Short Rib-Polydactyly Syndrome, Type Vi
|
|
Srps Type Vi
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Cleft Lip/Palate |
|
Cleft Lip And Palate
|
Alveolar Cleft Lip And Palate
|
|
Cleft Lip-Alveolus-Palate Syndrome
|
Flp
|
|
|
| Acrofacial Dysostosis |
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Retinal Degeneration |
|
|
| Bone Development Disease |
|
|
| Osteogenesis Imperfecta, Type Iii |
|
Osteogenesis Imperfecta Type Iii
|
OI3
|
|
Oi, Type Iii
|
Osteogenesis Imperfecta Type 3
|
|
Oi Type Iii
|
Oi Type 3
|
|
Progressive Deforming Osteogenesis Imperfecta
|
Severe Osteogenesis Imperfecta
|
|
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae
|
Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
|
|
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae
|
Progressively Deforming Oi
|
|
Osteogenesis Imperfecta 3
|
Oi-Iii
|
|
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
|
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
Fetal Akinesia Deformation Sequence
|
Fads
|
|
Fetal Akinesia Sequence
|
FADS1
|
|
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome Type 1
|
|
Fetal Akinesia Deformation Sequence Syndrome
|
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
|
|
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome, Type I
|
|
Foetal Akinesia Deformation Sequence Syndrome
|
Foetal Akinesia Sequence
|
|
Fetal Akinesia Deformation Sequence Syndrome 1
|
Pena-Shokeir Syndrome, Type 1
|
|
Pena Shokeir Syndrome, Type 1
|
Akinesia, Fetal, Deformation Sequence
|
|
Akinesia, Fetal, Deformation Sequence, Type 1
|
Pena-Shokeir Syndrome Type I
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Visceral Heterotaxy |
|
Situs Ambiguus
|
Heterotaxia
|
|
Heterotaxy Syndrome
|
Heterotaxy
|
|
Lateralization Defect
|
Situs Ambiguous
|
|
Left Isomerism
|
Htx
|
|
Ivemark Syndrome
|
Right Isomerism
|
|
Situs Ambiguus Viscerum
|
Incomplete Situs Inversus
|
|
Partial Situs Inversus
|
Heterotaxy, Visceral
|
|
Asplenia Syndrome
|
Bilateral Left-Sidedness
|
|
Polysplenia Syndrome
|
Moller Syndrome
|
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
| Situs Inversus |
|
Situs Inversus Viscerum
|
Laterality Sequence
|
|
Complete Transposition
|
Siv
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
