| 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 |
|
|
| 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 |
|
|
| 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 |
|
|
| 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 |
|
|
| 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
|
|
|
