| Diseases |
Alias |
|
| Nephronophthisis 12 |
|
NPHP12
|
Joubert Syndrome 11
|
|
JBTS11
|
Nephronophthisis, Type 12
|
|
|
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 4
|
SRTD4
|
|
Atd4
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Jeune Syndrome 4
|
|
|
| Infantile Nephronophthisis |
|
Autosomal Recessive Infantile Nphp
|
Autosomal Recessive Infantile Nephronophthisis
|
|
Nephronophthisis 2
|
|
|
| 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
|
|
|
| Nephronophthisis 2 |
|
NPHP2
|
Nph2
|
|
Nephronophthisis 2, Infantile
|
Infantile Nephronophthisis 2
|
|
Infantile Nephronophthisis
|
Nephronophthisis, Type 2
|
|
|
| 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
|
|
|
| Nephrotic Syndrome, Type 1 |
|
Finnish Congenital Nephrosis
|
NPHS1
|
|
Cnf
|
Finnish Congenital Nephrotic Syndrome
|
|
Nephrotic Syndrome Type 1
|
Nephrosis, Congenital
|
|
Congenital Nephrotic Syndrome
|
Nephrotic Syndrome, Congenital
|
|
Congenital Nephrotic Syndrome Finnish Type
|
Congenital Nephrotic Syndrome 1
|
|
Nephrosis 1, Congenital, Finnish Type
|
Congenital Nephrotic Syndrome, Finnish Type
|
|
Nephrotic Syndrome 1
|
Congenital Nephrotic Syndrome Of The Finnish Type
|
|
|
| Senior-Loken Syndrome 1 |
|
Senior-Loken Syndrome
|
Renal Dysplasia And Retinal Aplasia
|
|
Renal-Retinal Syndrome
|
Loken-Senior Syndrome
|
|
Juvenile Nephronophthisis With Leber Amaurosis
|
SLSN1
|
|
Senior-Loken Syndrome-1
|
Loken Senior Syndrome
|
|
Senior Loken Syndrome
|
Renal Dysplasia Retinal Aplasia
|
|
Nephronophthisis With Retinal Dystrophy
|
Renal Dysplasia-Retinal Aplasia Syndrome
|
|
Slsn
|
|
|
| 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
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Nephrotic Syndrome |
|
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
|
Nephrosis Syndrome
|
Nephrosis Nos
|
|
Glomerular Lesion Nephrosis
|
|
|
| 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
|
|
|
| Juvenile Nephronophthisis |
|
Nephronophthisis
|
Nephronophthisis, Familial Juvenile
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| Ciliopathy |
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
SRTD7
|
Srps5
|
|
Short Rib-Polydactyly Syndrome Type V
|
Short-Rib Thoracic Dysplasia 7/20 With Polydactyly, Digenic
|
|
Short Rib-Polydactyly Syndrome, Type V
|
Short Rib-Polydactyly Syndrome Type 5
|
|
Srps Type V
|
SRTD7/20
|
|
Short-Rib Thoracic Dysplasia 7 Without Polydactyly
|
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| Joubert Syndrome 17 |
|
JBTS17
|
Joubert Syndrome, Type 17
|
|
|
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Diabetes Insipidus, Nephrogenic, Autosomal
|
NDI2
|
|
Diabetes Insipidus, Nephrogenic, Type Ii
|
Diabetes Insipidus, Nephrogenic, 2
|
|
Nephrogenic Diabetes Insipidus Type 2
|
Autosomal Nephrogenic Diabetes Insipidus-2
|
|
Diabetes Insipidus, Nephrogenic Type 2
|
ANDI
|
|
Diabetes Insipidus Nephrogenic Type 2
|
Doid:0081061
|
|
Nephrogenic Diabetes Insipidus
|
Congenital Nephrogenic Diabetes Insipidus
|
|
Adh-Resistant Diabetes Insipidus
|
|
|
| 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 5 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 5
|
SRTD5
|
|
Atd5
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Jeune Syndrome 5
|
|
|
| End Stage Renal Disease |
|
End Stage Renal Failure
|
End-Stage Kidney Disease
|
|
Kidney Failure, Chronic
|
Chronic Kidney Disease Stage 5
|
|
|
| Hydrolethalus Syndrome 1 |
|
Hydrolethalus Syndrome
|
HLS1
|
|
Salonen-Herva-Norio Syndrome
|
Hls
|
|
Hydrolethalus
|
Hydrolethalus Syndrome, Type 1
|
|
|
| Retinitis Pigmentosa 37 |
|
RP37
|
Retinitis Pigmentosa-37
|
|
Retinitis Pigmentosa, Type 37
|
|
|
| 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 9 With Or Without Polydactyly |
|
Conorenal Syndrome
|
Saldino-Mainzer Syndrome
|
|
SRTD9
|
Mainzer-Saldino Syndrome
|
|
Mzsds
|
Mainzer-Saldino Disease
|
|
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia
|
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia
|
|
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy
|
Mainzer Saldino Syndrome
|
|
Conorenal Dysplasia
|
Mainzer-Saldino Chondrodysplasia
|
|
Saldino-Mainzer Dysplasia
|
Short-Rib Thoracic Dysplasia 9
|
|
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome
|
Mss
|
|
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia
|
|
|
| Joubert Syndrome 13 |
|
JBTS13
|
Joubert Syndrome, Type 13
|
|
|
| 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
|
|
|
| Nephronophthisis 9 |
|
NPHP9
|
Nephronophthisis, Type 9
|
|
|
| Microcephaly, Autosomal Dominant |
|
Autosomal Dominant Microcephaly
|
Microcephaly Autosomal Dominant
|
|
Autosomal Dominant Primary Microcephaly
|
Microcephaly With Autosomal Dominant Inheritance
|
|
|
| Retinal Degeneration |
|
|
| Acrofacial Dysostosis |
|
|
| Joubert Syndrome 3 |
|
JBTS3
|
Joubert Syndrome With Ocular Defect
|
|
Joubert Syndrome With Ocular Anomalies
|
Js-O
|
|
Joubert Syndrome With Retinopathy
|
Joubert Syndrome-3
|
|
Joubert Syndrome, Type 3
|
|
|
| Coach Syndrome 1 |
|
Coach Syndrome
|
Joubert Syndrome With Congenital Hepatic Fibrosis
|
|
Gentile Syndrome
|
Joubert Syndrome With Hepatic Defect
|
|
Js-H
|
COACH1
|
|
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
|
Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis
|
|
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis
|
Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
|
|
|
| Orofaciodigital Syndrome Vi |
|
OFD6
|
Varadi-Papp Syndrome
|
|
Varadi Syndrome
|
Joubert Syndrome With Orofaciodigital Defect
|
|
Orofaciodigital Syndrome Type 6
|
Orofaciodigital Syndrome 6
|
|
Oral-Facial-Digital Syndrome, Type Vi
|
Ofds Vi
|
|
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation
|
Polydactyly Cleft Lip Palate Psychomotor Retardation
|
|
Oral-Facial-Digital Syndrome Type 6
|
Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
|
|
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation
|
Váradi Syndrome
|
|
Váradi-Papp Syndrome
|
Joubert Syndrome With Oral-Facial-Digital Syndrome
|
|
Oral-Facial-Digital Syndrome 6
|
Joubert-Orofaciodigital Syndrome
|
|
Orofaciodigital Syndrome, Type Vi
|
|
|
| Cystic Kidney Disease |
|
Renal Cyst
|
Simple Renal Cyst
|
|
Kidney Cysts
|
Kidney Diseases, Cystic
|
|
Renal Cysts
|
Kidney Cyst
|
|
Cystic Kidney
|
Congenital Cystic Kidney Disease
|
|
Cystic Kidney Diseases
|
Bosniak 1 Cyst
|
|
|
| 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
|
|
|
| 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
|
|
|
| Situs Inversus |
|
Situs Inversus Viscerum
|
Laterality Sequence
|
|
Complete Transposition
|
Siv
|
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic Kidney Disease, Adult Type
|
Adpkd
|
|
Polycystic Kidney Diseases
|
Polycystic Kidney, Autosomal Dominant
|
|
Congenital Biliary Ectasias
|
Polycystic Kidney And Hepatic Disease 1
|
|
Polycystic Kidney Disease, Autosomal Dominant
|
Kidney, Polycystic, Disease, Autosomal Dominant
|
|
Adult Polycystic Kidney Disease
|
Polycystic Kidney, Adult Type
|
|
Apckd - [Autosomal Polycystic Kidney Disease]
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| 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
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| 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
|
|
|
