RNU4ATAC - RNA, U4atac small nuclear Gene

Also Known as LWS; RFMN; TALS; MOPD1; U4ATAC; RNU4ATAC1

Species: Homo sapiens

Gene Type: snRNA

Gene ID: 100151683

About RNU4ATAC

Cytogenetic location: 2q14.2 Genomic coordinates (GRCh38): 2:121,530,880-121,531,009 (from NCBI)

This gene has 1 transcript (splice variant) and is associated with 7 phenotypes.

Summary

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]

Related Diseases

Diseases	Alias
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Taybi-Linder Syndrome Brachymelic Primordial Dwarfism Cephaloskeletal Dysplasia Low-Birth-Weight Dwarfism With Skeletal Dysplasia Microcephalic Osteodysplastic Primordial Dwarfism Type I Osteodysplastic Primordial Dwarfism Type I Primordial Microcephalic Dwarfism, Crachami Type Osteodysplastic Primordial Dwarfism, Type 1 MOPD1 Mopd I Mopd Osteodysplastic Primordial Dwarfism, Type I Tals Microcephalic Osteodysplastic Primordial Dwarfism Type 1 Mopd 1 Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3 Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Mopd Types I And Iii Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type Primordial Microcephalic Dwarfism Crachami Type Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1
Lowry-Wood Syndrome	LWS Epiphyseal Dysplasia, Multiple, With Microcephaly And Retinal Dystrophy Lowry Wood Syndrome Epiphyseal Dysplasia, Microcephaly And Nystagmus Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome Dysplasia, Epiphyseal, Microcephaly, Nystagmus
Roifman Syndrome	RFMN Spondyloepiphyseal Dysplasia, Retinal Dystrophy, And Antibody Deficiency Spondyloepiphseal Dysplasia, Retinal Dystrophy And Antibody Deficiency Spondyloepiphyseal Dysplasia-Retinal Dystrophy-Immunodeficiency Syndrome
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
Bone Development Disease
Transient Hypogammaglobulinemia Of Infancy	Immunoglobulin Maturational Delay Thi - [Transient Hypogammaglobulinaemia Of Infancy]
Mandibulofacial Dysostosis, Guion-Almeida Type	Mandibulofacial Dysostosis With Microcephaly Mandibulofacial Dysostosis-Microcephaly Syndrome MFDGA MFDM Mfdm Syndrome Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome Dysostosis, Mandibulofacial, Guion-Almeida Type
Transient Hypogammaglobulinemia
Physical Disorder	Physical Illness
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Pituitary Hypoplasia	Hypoplasia Of The Pituitary Gland
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism Type Ii Majewski Osteodysplastic Primordial Dwarfism Type Ii MOPD2 Mopd Ii Osteodysplastic Primordial Dwarfism Type Ii Mopdii Osteodysplastic Primordial Dwarfism Type 2 Osteodysplastic Primordial Dwarfism, Type Ii Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Mopd 2 Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Mopd Type Ii Microcephalic Osteodysplastic Primordial Dwarfism 2 Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Osteopathia Striata With Cranial Sclerosis	Hyperostosis Generalisata With Striations Robinow-Unger Syndrome OSCS Osteopathia Striata Cranial Sclerosis Osteopathia Striata-Cranial Sclerosis Syndrome Horan-Beighton Syndrome Os-Cs Osteopathia Striata - Cranial Sclerosis Voorhoeve Disease Osc
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 3 CDLS3 Cornelia De Lange Syndrome, Type 3
Three M Syndrome 1	3-M Syndrome Yakut Short Stature Syndrome 3m Syndrome Le Merrer Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Three M Syndrome 3M1 3m Syndrome 1 Miller-Mckusick-Malvaux Syndrome 3-Msbn Three-M Slender-Boned Nanism Miller-Mckusick-Malvaux-Syndrome 3-M Syndrome 1 3m Syndrome-1 3m Syndrome, Type 1 Dwarfism Dwarfism Tall Vertebrae
Spinocerebellar Ataxia 31	Spinocerebellar Ataxia Type 31 SCA31 Spinocerebellar Ataxia 16q22-Linked Spinocerebellar Ataxia, 16q22-Linked Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Ataxia, Spinocerebellar, Type 31
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Muscle Tissue Disease
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Pituitary Gland Disease	Pituitary Diseases Pituitary Dysfunction Pituitary Disease Pituitary Deficiency Pituitary Disorders
Unilateral Retinoblastoma
Cerebrocostomandibular Syndrome	Cerebro-Costo-Mandibular Syndrome CCMS Rib Gap Defects With Micrognathia Ccm Syndrome
West Nile Encephalitis	West-Nile Encephalitis West Nile Fever West Nile Fever Encephalitis West Nile Fever With Encephalitis West-Nile Fever Encephalitis, West Nile Fever
Herpangina	Vesicular Pharyngitis
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Sanjad-Sakati Syndrome Hrd Syndrome HRDS Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome Richardson-Kirk Syndrome Sss Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay Hypoparathyroidism With Short Stature, Mental Retardation And Seizures Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	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
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Specific Developmental Disorder
Autoimmune Polyendocrine Syndrome, Type Ii	Schmidt Syndrome Autoimmune Polyendocrine Syndrome Type 2 APS2 Autoimmune Polyglandular Syndrome Type 2 Diabetes Mellitus, Addison Disease, Myxedema Polyglandular Autoimmune Syndrome, Type Ii Pga Ii Polyendocrine Autoimmune Syndrome, Type Ii Aps Ii Autoimmune Polyglandular Syndrome Type Ii Diabetes Mellitus, Addison'S Disease, Myxedema Multiple Endocrine Deficiency Syndrome, Type 2 Pga 2 Pga-Ii Polyglandular Autoimmune Syndrome, Type 2 Polyglandular Deficiency Syndrome Type 2 Schmidt'S Syndrome Autoimmune Polyendocrinopathy Type 2 Aps Type 2 Autoimmune Thyroid Disease And/Or Type 1 Diabetes-Addison Disease Syndrome Autoimmune Syndrome Type Ii Polyglandular Autoimmune Syndrome Type Ii, Polyglandular
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Hypopituitarism	Pituitary Hypofunction Pituitary Insufficiency Pituitary Hormone Deficiency Subpituitarism Hypophyseal Dystrophy Hypohypophysism Anterior Pituitary Insufficiency Deficient Secretion Of One Or More Pituitary Hormones Hypopituitarism Syndrome Pituitary Deficiency Pituitary Failure Pituitary Insufficiency Nos Anterior Pituitary Hypofunction Deficient Secretion Of All Pituitary Hormones Hypopituitary Dwarfism Hyposomatotropic Dwarfism Hypophyseal Dwarfism Hypopituitary Cachexia Hypophyseal Short Stature Panhypopituitarism Syndrome Pituitary Cachexia Juvenile Hypopituitarism Pituitary Dwarfism Pituitary Gland Hypofunction Primary Hypopituitarism Secondary Hypogonadism Prepubertal Panhypopituitarism Prepubertal Dwarfism Postpartum Panhypopituitary Syndrome Postpartum Hypopituitarism Pituitary Short Stature Pituitary Infantilism Pituitary Hypogonadism Pituitary Hypoadrenocorticism
Muscular Disease
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Image Syndrome IMAGE Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies Image Anomaly Image Association Fetal Growth Retardation Pyle Metaphyseal Dysplasia
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Eye Degenerative Disease
Chickenpox	Varicella Varicella Nos
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Duodenal Atresia	Duodenal Stenosis Familial Duodenal Atresia
Christianson Syndrome	X-Linked Angelman-Like Syndrome X-Linked Intellectual Disability, South African Type X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome Mental Retardation, X-Linked Syndromic, Christianson Type Mrxsch Angelman-Like Syndrome X-Linked Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome Intellectual Disability X-Linked Syndromic Christianson Type Mrxs Christianson X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy Angelman-Like Syndrome, X-Linked Intellectual Deficit, X-Linked, South African Type Mental Retardation X-Linked, South African Type Mental Retardation, X-Linked, Syndromic, Christianson Type
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis Type 10 ALS10 Amyotrophic Lateral Sclerosis 10, With Or Without Ftd Frontotemporal Lobar Degeneration, Tardbp-Related Amyotrophic Lateral Sclerosis 10 Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions Sclerosis, Lateral, Amyotrophic, Type Type 10
Feingold Syndrome 1	Feingold Syndrome Oculodigitoesophagoduodenal Syndrome Oded Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum FGLDS1 Mmt Syndrome Brunner-Winter Syndrome Feingold Syndrome Type 1 Oded Moded Fglds Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Moded Syndrome Oculo-Digito-Esophageal-Duodenal Syndrome Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome Microcephaly And Digital Abnormalities With Normal Intelligence Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Oculo-Digito-Esophagoduodental Syndrome Fs Mmt Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Brunner-Winter Syndrome Type 1 Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1 Fs1 Mmt Type 1 Moded Syndrome Type 1 Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 Oded Syndrome Type 1 Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 Feingold Syndrome, Type 1
Immunoglobulin A Deficiency 1	Immunoglobulin A Deficiency Selective Iga Deficiency Disease Selective Immunoglobulin A Deficiency IGAD1 Immunoglobulin A, Selective Deficiency Of Iga, Selective Deficiency Of Gamma-A-Globulin, Selective Deficiency Of Selective Iga Immunodeficiency Selective Iga Deficiency Iga Deficiency Selective
Hyperferritinemia With Or Without Cataract	Hyperferritinemia-Cataract Syndrome Hhcs Hereditary Hyperferritinemia With Congenital Cataracts Hyperferritinemia, Hereditary, With Congenital Cataracts Bonneau-Beaumont Syndrome HRFTC Hereditary Hyperferritinemia-Cataract Syndrome Cataract-Hyperferritinemia Syndrome Hyperferritinemia Cataract Syndrome Hereditary Hyperferritinemia Cataract Syndrome
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Craniofacial Microsomia	Goldenhar Syndrome Hemifacial Microsomia Oculoauriculovertebral Spectrum Oavs Oculo-Auriculo-Vertebral Spectrum CFM Oav Dysplasia Facioauriculovertebral Sequence Fav Sequence First And Second Branchial Arch Syndrome Otomandibular Dysostosis Hfm Oculoauriculovertebral Dysplasia Facio-Auriculo-Vertebral Spectrum Facioauriculovertebral Dysplasia Oculo-Auriculo-Vertebral Dysplasia First Arch Syndrome Oav Dysplasia Goldenhar Disease Expanded Spectrum Hemifacial Microsomia Expanded Spectrum Of Hemifacial Microsomia Oculoauriculovertebral Syndrome Oavd Asymmetric Hypoplasia Of Facial Structures Auriculobranchiogenic Dysplasia Fav First And Second Pharyngeal Arch Syndromes Goldenhar-Gorlin Syndrome Lateral Facial Dysplasia Oav Complex Oral-Mandibular-Auricular Syndrome Unilateral Intrauterine Facial Necrosis Unilateral Mandibulofacial Dysostosis Oav Spectrum Oculoauricular Vertebral Dysplasia Microsomia, Hemifacial Goldenhar Syndrome With Ipsilateral Radial Defect
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Sensory System Disease
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Amyotrophic Lateral Sclerosis Type 6	Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Als6 Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia Autosomal Recessive Amyotrophic Lateral Sclerosis 6 Sclerosis, Lateral, Amyotrophic, Type Type 6 Amyotrophic Lateral Sclerosis 6
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Perlman Syndrome	Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor PRLMNS Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome Renal Hamartomas Nephroblastomatosis And Fetal Gigantism Nephroblastoma Fetal Macrosomia
Burn-Mckeown Syndrome	Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome Oculootofacial Dysplasia BMKS Oofd Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome Choanal Atresia Deafness Cardiac Defects Dysmorphism Oculo-Oto-Facial Dysplasia
Dysostosis	Dysostoses
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
B Cell Deficiency	Immunoglobulin Heavy Chain Deficiency B Cell Deficiencies Immunoglobulin Heavy Chain Deletion Humoral Immune Defect
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio Type PN Clericuzio Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia, Clericuzio-Type Clericuzio-Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia Clericuzio Type Immune-Deficient Poikiloderma Clericuzio-Type Poikiloderma Neutropenia Syndrome Poikiloderma With Neutropenia Clericuzio-Type Poikiloderma, With Neutropenia
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Brachydactyly
Endocrine System Disease	Abnormality Of The Endocrine System Disorder Of Endocrine System Endocrine System Diseases
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Synostosis
Hypertrichosis
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Disease Of Mental Health	Mental Health Mental Disorders
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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
Retinitis Pigmentosa 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Myopathy	Muscular Diseases Myopathies
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
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation