| Diseases |
Alias |
|
| Cockayne Syndrome B |
|
Cockayne Syndrome Type 2
|
Cockayne Syndrome, Type B
|
|
Cockayne Syndrome Type Ii
|
CSB
|
|
Cockayne Syndrome 2
|
Cockayne Syndrome Type B
|
|
Ckn2
|
Cockayne Syndrome, Type Ii
|
|
|
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cofs Syndrome
|
COFS1
|
|
Pena-Shokeir Syndrome Type 2
|
Cofs
|
|
Pena-Shokeir Syndrome, Type Ii
|
Cerebrooculofacioskeletal Syndrome
|
|
Cerebro-Oculo-Facio-Skeletal Syndrome 1
|
Pena Shokeir Syndrome Type 2
|
|
|
| Premature Ovarian Failure 11 |
|
POF11
|
Ovarian Failure, Premature, Type 11
|
|
|
| De Sanctis-Cacchione Syndrome |
|
Xerodermic Idiocy
|
Xeroderma Pigmentosum With Neurologic Manifestation
|
|
DSC
|
Xerodermic Idiocy Of De Sanctis And Cacchione
|
|
|
| Macular Degeneration, Age-Related, 5 |
|
ARMD5
|
Age Related Macular Degeneration 5
|
|
Macular Degeneration, Age-Related, Susceptibility To, 5
|
Macular Degeneration, Age-Related 5
|
|
Macular Degeneration, Age-Related, Type 5
|
|
|
| Uv-Sensitive Syndrome 1 |
|
|
| Cockayne Syndrome |
|
Cockayne'S Syndrome
|
Dwarfism-Retinal Atrophy-Deafness Syndrome
|
|
Neill-Dingwall Syndrome
|
Progeria-Like Syndrome
|
|
Progeroid Nanism
|
Cs
|
|
|
| Lung Cancer |
|
Lung Carcinoma
|
Non-Small Cell Lung Carcinoma
|
|
Lung Cancer, Susceptibility To
|
Lung Cancer, Protection Against
|
|
Adenocarcinoma Of Lung, Somatic
|
Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
|
|
Nonsmall Cell Lung Cancer
|
Lung Neoplasm
|
|
Carcinoma Of Lung
|
Lung Non-Small Cell Carcinoma
|
|
Non-Small Cell Lung Cancer
|
Nsclc
|
|
Lung Neoplasms
|
Malignant Neoplasm Of Lung
|
|
Alveolar Cell Carcinoma
|
Nonsmall Cell Lung Cancer, Somatic
|
|
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In
|
Nonsmall Cell Lung Cancer, Susceptibility To
|
|
Lung Cancer, Somatic
|
Lung Cancer, Resistance To
|
|
Cancer Of Lung
|
Cancer Of Bronchus
|
|
Cancer Of The Lung
|
Lung Malignancies
|
|
Lung Malignant Tumors
|
Malignant Lung Tumor
|
|
Malignant Tumor Of Lung
|
Pulmonary Cancer
|
|
Pulmonary Carcinoma
|
Pulmonary Neoplasms
|
|
Respiratory Carcinoma
|
LNCR
|
|
Adenocarcinoma Of Lung
|
Neoplasm Of Lung
|
|
Cancer Lung
|
Carcinoma Non-Small Cell Lung
|
|
Carcinoma, Non-Small-Cell Lung
|
Lung Cancers
|
|
Lung Carcinomas
|
Cancer, Lung
|
|
Cancer, Lung, Non-Small Cell
|
Primary Malignant Neoplasm Of Lung
|
|
Bronchioloalveolar Adenocarcinoma
|
|
|
| Cockayne Syndrome Type Iii |
|
Cockayne Syndrome Type 3
|
Cockayne Syndrome Type C
|
|
Cockayne Syndrome, Type Iii
|
|
|
| Uv-Sensitive Syndrome |
|
Uvss
|
Uv Sensitive Syndrome
|
|
Ultraviolet Sensitive Syndrome
|
|
|
| Genetic Non-Acquired Premature Ovarian Failure |
|
|
| Cockayne Syndrome A |
|
Cockayne Syndrome Type 1
|
Cockayne Syndrome, Type A
|
|
Cockayne Syndrome Type I
|
CSA
|
|
Cockayne Syndrome Classic Form
|
Cockayne Syndrome Classical
|
|
Cockayne Syndrome Type A
|
Ckn1
|
|
|
| Cerebrooculofacioskeletal Syndrome |
|
Cerebro-Oculo-Facio-Skeletal Syndrome
|
Cofs Syndrome
|
|
Pena-Shokeir Syndrome Type 2
|
Pena Shokeir Syndrome Type 2
|
|
|
| Trichothiodystrophy |
|
Ttd
|
Amish Brittle Hair Syndrome
|
|
Bids Syndrome
|
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
|
|
Ibids
|
Pibids
|
|
Trichothiodystrophy Syndromes
|
|
|
| Physical Disorder |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
Xeroderma Pigmentosum
|
XPV
|
|
Xeroderma Pigmentosum Variant Type
|
Xeroderma Pigmentosum With Normal Dna Repair Rates
|
|
Photosensitivity With Defective Dna Synthesis
|
Xp
|
|
De Sanctis-Cacchione Syndrome
|
Desanctis-Cacchione Syndrome
|
|
Xeroderma Pigmentosa
|
Xerodermic Idiocy
|
|
Xeroderma Pigmentosum Variant
|
Xp - [Xeroderma Pigmentosum]
|
|
Atrophoderma Pigmentosum
|
|
|
| Orbital Disease |
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
Xeroderma Pigmentosum, Group G
|
Xeroderma Pigmentosum Vii
|
|
Xp7
|
XPG
|
|
Xeroderma Pigmentosum Group G
|
Xp Group G
|
|
Xp, Group G
|
Xpgc
|
|
Xeroderma Pigmentosum, Group G/Cockayne Syndrome
|
Xeroderma Pigmentosum, Type 7
|
|
Xeroderma Pigmentosum Complementation Group G
|
XP-G
|
|
Xp-G/Cs
|
Xeroderma Pigmentosum Group G/Cockayne Syndrome
|
|
|
| Pseudopapilledema |
|
|
| Lens Disease |
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Xeroderma Pigmentosum, Complementation Group F |
|
Xeroderma Pigmentosum, Group F
|
Xeroderma Pigmentosum Vi
|
|
Xp6
|
Xeroderma Pigmentosum, Type F/Cockayne Syndrome
|
|
XPF
|
Xp, Group F
|
|
Xeroderma Pigmentosum Group F
|
Xp Group F
|
|
Xeroderma Pigmentosum, Type 6
|
Xeroderma Pigmentosum Complementation Group F
|
|
XP-F
|
Xeroderma Pigmentosum Type F/Cockayne Syndrome
|
|
XPF/CS
|
|
|
| Xfe Progeroid Syndrome |
|
Xpf-Ercc1 Progeroid Syndrome
|
XFEPS
|
|
|
| Suppurative Otitis Media |
|
Otitis Media With Effusion - Purulent
|
Purulent Otitis Media
|
|
Otitis Media, Suppurative
|
|
|
| Fanconi Anemia, Complementation Group Q |
|
Fanconi Anemia Complementation Group Q
|
FANCQ
|
|
|
| Fanconi Anemia, Complementation Group R |
|
Fanconi Anemia Complementation Group R
|
FANCR
|
|
|
| Visual Pathway Disease |
|
Disorder Of Visual Pathways
|
|
|
| Sensory System Disease |
|
|
| Specific Developmental Disorder |
|
|
| Eye Degenerative Disease |
|
|
| Cardiomyopathy, Dilated, 1l |
|
Dilated Cardiomyopathy 1l
|
CMD1L
|
|
Cardiomyopathy, Dilated 1l
|
Cardiomyopathy, Dilated, Type 1l
|
|
|
| Anterior Segment Dysgenesis 3 |
|
Iridogoniodysgenesis, Type 1
|
Irid1
|
|
Iridogoniodysgenesis Anomaly, Autosomal Dominant
|
Igda
|
|
ASGD3
|
Iris Hypoplasia With Glaucoma
|
|
Glaucoma Iridogoniodysplasia, Familial
|
Anterior Segment Dysgenesis 3, Multiple Subtypes
|
|
Iridogoniodysgenesis Type 1
|
Glaucoma Iridogoniodysgenesia
|
|
Igda Syndrome
|
Iridogoniodysgenesis Anomaly
|
|
|
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Midas Syndrome
|
Mcops7
|
|
Mls Syndrome
|
Microphthalmia, Syndromic 7
|
|
Microphthalmia With Linear Skin Defects Syndrome
|
Microphthalmia With Linear Skin Defects
|
|
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome
|
Syndromic Microphthalmia Type 7
|
|
LSDMCA1
|
Mls
|
|
Microphthalmia, Dermal Aplasia, And Sclerocornea
|
Microphthalmia With Linear Skin Defect Syndrome
|
|
Syndromic Microphthalmia 7
|
Linear Skin Defects With Multiple Congenital Anomalies
|
|
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome
|
Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
|
|
Micropthalmia Syndromic 7
|
Microphthalmia Syndromic 7
|
|
Microphthalmia With Linear Skin Lesions Syndrome
|
Syndromic Microphthalmia-7
|
|
Microphthalmia, Dermal Aplasia And Sclerocornea
|
Microphthalmia, Syndromic, 7
|
|
Midas
|
|
|
| Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Chromosome 16p12.2-P11.2 Deletion Syndrome
|
16p11.2p12.2 Microdeletion Syndrome
|
|
16p11.2-P12.2 Microdeletion Syndrome
|
Del(16)(P11.2p12.2)
|
|
Monosomy 16p11.2p12.2
|
Chromosome Deletion Syndrome 16p12.2-P11.2
|
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Spinal Muscular Atrophy, Jerash Type
|
DSMA2
|
|
Neuropathy, Distal Hereditary Motor, Jerash Type
|
Hmnj
|
|
Autosomal Recessive Distal Spinal Muscular Atrophy 2
|
Neuronopathy, Distal Hereditary Motor, Jerash Type
|
|
Distal Spinal Muscular Atrophy 2
|
Dhmnj
|
|
Hereditary Motor Neuropathy, Jerash Type
|
Motor Neuropathy, Distal, Jerash Type
|
|
Distal Hereditary Motor Neuropathy, Jerash Type
|
Distal Hereditary Motor Neuropathy Jerash Type
|
|
Spinal Muscular Atrophy Jerash Type
|
Mndj
|
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 2
|
Distal Spinal Muscular Atrophy, Autosomal Recessive, 2
|
|
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2
|
|
|
| Xeroderma Pigmentosum, Complementation Group A |
|
Xeroderma Pigmentosum Group A
|
Xp1
|
|
Xeroderma Pigmentosum, Group A
|
XPA
|
|
Xeroderma Pigmentosum I
|
Xeroderma Pigmentosum Complementation Group A
|
|
Xp Group A
|
Xp, Group A
|
|
Xeroderma Pigmentosum 1
|
Xeroderma Pigmentosum, Type 1
|
|
XP-A
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Chromosome 10q26 Deletion Syndrome |
|
Distal 10q Deletion Syndrome
|
Terminal Chromosome 10q26 Deletion Syndrome
|
|
Distal Monosomy 10q
|
Monosomy 10qter
|
|
Telomeric Deletion 10q
|
Distal Deletion 10q
|
|
10q26 Deletion Syndrome
|
10qter Deletion
|
|
Telomeric Deletion 10
|
|
|
| Fanconi Anemia, Complementation Group U |
|
Fanconi Anemia Complementation Group U
|
FANCU
|
|
|
| Mullegama-Klein-Martinez Syndrome |
|
MKMS
|
Nedxcf
|
|
Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities
|
X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities
|
|
|
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple Pterygium Syndrome
|
Pterygium
|
|
Escobar Syndrome
|
EVMPS
|
|
Pterygium Syndrome
|
Autosomal Recessive Multiple Pterygium Syndrome
|
|
Pterygium Colli Syndrome
|
Pterygium Universale
|
|
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
|
Escobar Variant Multiple Pterygium Syndrome
|
|
Multiple Pterygium Syndrome, Nonlethal Type
|
Surfer'S Eye
|
|
Multiple Pterygium Syndrome Escobar Type
|
Multiple Pterygium Syndrome Nonlethal Type
|
|
Familial Pterygium Syndrome
|
Pterygium Colli
|
|
Multiple Pterygium Syndrome, Non-Lethal Type
|
Nonlethal Type Multiple Pterygium Syndrome
|
|
Pterygium Syndrome, Multiple, Escobar Type
|
Pterygium Of Eye
|
|
Web Eye
|
|
|
| Lissencephaly 6 |
|
|
| Fanconi Anemia, Complementation Group T |
|
Fanconi Anemia Complementation Group T
|
FANCT
|
|
|
| Xeroderma Pigmentosum, Complementation Group B |
|
Xeroderma Pigmentosum Group B
|
Xeroderma Pigmentosum, Group B
|
|
XPB
|
Xpbc
|
|
Xp Group B
|
Xp, Group B
|
|
Xeroderma Pigmentosum Complementation Group B
|
XP-B
|
|
Xeroderma Pigmentosum Group B With Cockayne Syndrome
|
Xeroderma Pigmentosum Ii
|
|
Xp2
|
Xp-B/Cs
|
|
|
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Michelin Tire Baby Syndrome
|
CSCSC1
|
|
Skin Creases, Multiple Benign Ring-Shaped, Of Limbs
|
Circumferential Skin Creases, Kunze Type
|
|
Congenital Symmetric Circumferential Skin Creases 1
|
Circumferential Skin Creases Kunze Type
|
|
Symmetric Circumferential Skin Creases, Congenital, 1
|
Csc-Kt
|
|
Multiple Benign Ring-Shaped Skin Creases Of Limbs
|
Michelin-Tire Baby
|
|
|
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
CSCSC2
|
Symmetric Circumferential Skin Creases, Congenital, 2
|
|
Congenital Symmetric Circumferential Skin Creases 2
|
|
|
| Enophthalmos |
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Atr-X Syndrome
|
Atr, Nondeletion Type
|
|
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
Atrx Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
|
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
|
|
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
|
Xlmr Hypotonic Face Syndrome
|
|
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
|
Alpha Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha Thalassemia/Mental Retardation, X-Linked
|
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
|
|
Xlmr-Hypotonic Face Syndrome
|
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
|
| Integumentary System Disease |
|
|
| Immunodeficiency 30 |
|
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency
|
IMD30
|
|
Il12rb1 Deficiency
|
Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency
|
|
Msmd Due To Complete Il12rb1 Deficiency
|
Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency
|
|
Il-12râ1 Deficiency
|
Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency
|
|
Immunodeficiency, Type 30
|
|
|
| Xeroderma Pigmentosum, Complementation Group C |
|
Xeroderma Pigmentosum, Group C
|
XPC
|
|
Xpcc
|
Xeroderma Pigmentosum Iii
|
|
Xp3
|
Xeroderma Pigmentosum Group C
|
|
Xp Group C
|
Xp, Group C
|
|
Xeroderma Pigmentosum, Type 3
|
Xeroderma Pigmentosum Complementation Group C
|
|
XP-C
|
|
|
| Degeneration Of Macula And Posterior Pole |
|
Degeneration Of Macula And Posterior Pole Of Retina
|
Degeneration Of Macula Or Posterior Pole
|
|
Macular Degeneration Nos
|
Degenerative Disorder Of Macula
|
|
Drusen Macular Degeneration
|
Posterior Pole Macular Degeneration Of Eye
|
|
Macular Eye Degeneration
|
Macular Degeneration Of Retina, Unspecified
|
|
Pseudohole Degeneration Of Macula Of Retina
|
|
|
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Ehlers-Danlos Syndrome, Musculocontractural Type 1
|
EDSMC1
|
|
Edsmc
|
Adducted Thumb-Clubfoot Syndrome
|
|
Atcs
|
Dundar Syndrome
|
|
Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis
|
Ehlers-Danlos Syndrome Musculocontractural Type 1
|
|
Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome
|
Ehlers-Danlos Syndrome, Type Vib, Formerly
|
|
Eds6b, Formerly
|
Adducted Thumbs-Arthrogryposis Dundar Type
|
|
Arthrogryposis Distal With Peculiar Facies And Hydronephrosis
|
Eds6b Formerly
|
|
Ehlers-Danlos Syndrome Type Vib Formerly
|
Ehlers-Danlos, Musculocontractural Syndrome, Type 1
|
|
|
| Cerebellar Ataxia Type 47 |
|
|
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Malouf Syndrome
|
Najjar Syndrome
|
|
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
|
Cardiogenital Syndrome
|
|
Genital Anomaly With Cardiomyopathy
|
Cardiomyopathy With Primary Testicular Failure
|
|
Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism
|
Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
|
|
Cardiomyopathy, Dilated, With Premature Ovarian Failure
|
Cardiomyopathy Eith Primary Testicular Failure
|
|
Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism
|
Dilated Cardiomyopathy With Premature Ovarian Failure
|
|
CMDHH
|
Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism
|
|
Cardiomyopathy Dilated With Premature Ovarian Failure
|
|
|
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Amyloidosis Cutis Dyschromica
|
PLCA3
|
|
Acd
|
Primary Localized Cutaneous Amyloidosis 3
|
|
Amyloidosis Cutis Dyschromia
|
|
|
| Immunodeficiency With Hyper-Igm, Type 4 |
|
HIGM4
|
Hyper-Igm Syndrome Type 4
|
|
Immunodeficiency With Hyper-Igm Type 4
|
Hyper-Igm Syndrome 4
|
|
Immunodeficiency With Hyper Igm Type 4
|
Hyper Igm Syndrome 4
|
|
Immunodeficiency, With Hyper Igm, Type 4
|
|
|
| Immunodeficiency With Hyper-Igm, Type 5 |
|
HIGM5
|
Hyper-Igm Syndrome 5
|
|
Immunodeficiency With Hyper Igm Type 5
|
Hyper-Igm Syndrome Type 5
|
|
Hyper-Igm Syndrome Due To Ung Deficiency
|
Hyper-Igm Syndrome Due To Uracil N-Glycosylase
|
|
Immunodeficiency With Hyper Igm, Type 5
|
Hyper Igm Syndrome 5
|
|
Immunodeficiency With Hyper-Igm 5
|
Hyper-Igm Immunodeficiency Type 5
|
|
Immunodeficiency, With Hyper Igm, Type 5
|
Hyper-Igm Immunodeficiency Syndrome, Type 5
|
|
|
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Familial Infantile Myasthenia
|
CMS6
|
|
Cmsea
|
Congenital Myasthenic Syndrome 6
|
|
Familial Infantile Myasthenia Gravis 2
|
Fimg2
|
|
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea
|
Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
|
|
Congenital Myasthenic Syndrome Type Ia2, Formerly
|
Cms1a2, Formerly
|
|
Cms Ia2, Formerly
|
Myasthenia, Familial Infantile, Formerly
|
|
Fim, Formerly
|
Myasthenia Gravis, Familial Infantile, 2, Formerly
|
|
Fimg2, Formerly
|
Cms Ia2
|
|
Cms1a2
|
Congenital Myasthenic Syndrome 6, Presynaptic
|
|
Congenital Myasthenic Syndrome Type Ia2
|
Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
|
|
Fim
|
Cms1a
|
|
Cms-Ea
|
Cms Ia
|
|
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea
|
Congenital Myasthenic Syndrome Type 1a
|
|
Congenital Myasthenic Syndrome Type Ia
|
Myasthenic Syndrome, Congenital, Type 6, Presynaptic
|
|
|
| Trichothiodystrophy 3, Photosensitive |
|
TTD3
|
Trichothiodystrophy, Complementation Group A
|
|
Ttda
|
Photosensitive Trichothiodystrophy 3
|
|
Trichothiodystrophy Complementation Group A
|
|
|
| Skin Carcinoma |
|
Skin Cancer
|
Carcinoma Of Skin
|
|
Ca - Skin Cancer
|
Cancer Of Skin
|
|
Malignant Neoplasm Of Skin
|
Melanoma And Non-Melanoma Skin Cancer
|
|
Skin Cancers
|
Cancer, Skin
|
|
|
| Inner Ear Disease |
|
Labyrinthine Dysfunction
|
Diseases Of Inner Ear
|
|
Labyrinthine Disease
|
Abnormality Of The Inner Ear
|
|
Labyrinth Diseases
|
Labyrinthine Disorder
|
|
Nonfunctioning Labyrinth
|
Labyrinthine Loss Of Function
|
|
Labyrinthine Syndrome
|
Labyrinthine Disorder Nos
|
|
|
| Rothmund-Thomson Syndrome, Type 2 |
|
Rothmund-Thomson Syndrome
|
Rts
|
|
RTS2
|
Poikiloderma Of Rothmund-Thomson
|
|
Rothmund-Thomson Syndrome Type 2
|
Congenital Poikiloderma
|
|
Poikiloderma Congenitale
|
Poikiloderma Atrophicans And Cataract
|
|
Poikiloderma Congenitale Of Rothmund-Thomson
|
Poikiloderma Of Rothmund-Thomson Type 2
|
|
Rothmund-Thomson Syndrome 2
|
Erythrokeratodermia Variabilis
|
|
|
| Mismatch Repair Cancer Syndrome |
|
Turcot Syndrome
|
Brain Tumor-Polyposis Syndrome 1
|
|
Btp1 Syndrome
|
Btps1
|
|
Childhood Cancer Syndrome
|
Cmmr-D Syndrome
|
|
Cmmrds
|
Constitutional Mismatch Repair Deficiency Syndrome
|
|
Mmr Deficiency
|
Cancer Syndrome, Mismatch Repair
|
|
Malignant Childhood Neoplasm
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Xeroderma Pigmentosum Group E |
|
Xeroderma Pigmentosum, Group E
|
Xeroderma Pigmentosum V
|
|
Xp Group E
|
Xp5
|
|
Xpe
|
Xeroderma Pigmentosum, Complementation Group E
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Guam Disease
|
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam
|
|
Als-Pdc
|
Lytico-Bodig Disease
|
|
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex
|
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To
|
|
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To
|
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex
|
|
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome
|
Parkinsonism-Dementia-Als Complex
|
|
Pdals
|
Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam
|
|
Parkinson-Dementia Complex Of Guam
|
G-Pdc
|
|
Guam Parkinsonism-Dementia Complex
|
ALS-PDC1
|
|
Als/Pdc Of Guam
|
Amyotrophic Lateral Sclerosis
|
|
Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1
|
Amyotrophic Lateral Sclerosis, Guam Form
|
|
Parkinsonian Disorders
|
|
|
| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
Fanconi Pancytopenia
|
|
Fanconi Anemia Complementation Group A
|
FANCA
|
|
Fa
|
Fanconi Panmyelopathy
|
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
| Photoparoxysmal Response 1 |
|
Photosensitivity Disease
|
Photodermatitis
|
|
Photosensitivity Disorders
|
PPR1
|
|
Ppr
|
Photosensitivity
|
|
Photoconvulsive Reaction
|
Epilepsy, Photogenic
|
|
Photosensitivity Of Skin
|
Dermatitis, Phototoxic
|
|
|
| Skin Atrophy |
|
Atrophic Condition Of Skin
|
Atrophoderma
|
|
Atrophy - Skin
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Lig4 Syndrome |
|
Dna Ligase Iv Deficiency
|
Ligase 4 Syndrome
|
|
LIG4S
|
|
|
| Myasthenic Syndrome, Congenital, 10 |
|
Congenital Myasthenic Syndrome 10
|
CMS10
|
|
Lgm
|
Myasthenia, Limb-Girdle, Familial
|
|
Myasthenia, Limb-Girdle, Familial, Formerly
|
Lgm, Formerly
|
|
Congenital Myasthenic Syndrome Type Ib, Formerly
|
Cms1b, Formerly
|
|
Cms Ib, Formerly
|
Myasthenic Myopathy, Formerly
|
|
Familial Limb-Girdle Myasthenia
|
Cms1b
|
|
Cms Ib
|
Congenital Myasthenic Syndrome Type 1b
|
|
Congenital Myasthenic Syndrome Type Ib
|
Myasthenic Myopathy
|
|
Myasthenic Syndrome, Congenital, Type 10
|
Congenital Myasthenic Syndrome Ib
|
|
Myopathy In Myasthenia Gravis
|
|
|
| Birt-Hogg-Dube Syndrome |
|
Hornstein-Knickenberg Syndrome
|
Fibrofolliculomas With Trichodiscomas And Acrochordons
|
|
BHD
|
Birt-Hogg-Dubé Syndrome
|
|
Multiple Fibrofolliculoma Familial
|
Bhd Syndrome
|
|
Birt Hogg Dube Syndrome
|
Hornstein-Birt-Hogg-Dubé Syndrome
|
|
Multiple Fibrofolliculomas
|
|
|
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic Lateral Sclerosis Type 4
|
ALS4
|
|
Amyotrophic Lateral Sclerosis 4
|
Dhmn With Upper Motor Neuron Signs
|
|
Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs
|
Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
|
|
Als 4
|
Distal Hereditary Motor Neuropathy With Pyramidal Features
|
|
Amyotrophic Lateral Sclerosis Juvenile 4
|
Neuronopathy Distal Hereditary Motor With Pyramidal Features
|
|
Sclerosis, Lateral, Amyotrophic, Type Type 4
|
|
|
| Premature Ovarian Failure 19 |
|
POF19
|
Primary Ovarian Insufficiency 19
|
|
Poi19
|
Ovarian Failure, Premature, Type 19
|
|
|
| Cranial Nerve Disease |
|
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
|
Cranial Nerve Diseases
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
ARCL3A
|
De Barsy Syndrome A
|
|
Aldh18a1-Related De Barsy Syndrome
|
Progeroid Syndrome Of De Barsy
|
|
Autosomal Recessive Cutis Laxa Type Iiia
|
P5cs Deficiency
|
|
De Barsy Syndrome
|
Cutis Laxa, Corneal Clouding, And Mental Retardation
|
|
Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency
|
Neurocutaneous Syndrome, Bicknell Type
|
|
Cutis Laxa Corneal Clouding Mental Retardation
|
Progeroid Syndrome De Barsy Type
|
|
Cutis Laxa, Autosomal Recessive, 3a
|
Cutis Laxa Autosomal Recessive Type Iiia
|
|
Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin
|
Neurocutaneous Syndrome Bicknell Type
|
|
Corneal Clouding Cutis Laxa Mental Retardation
|
|
|
| Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Ocular Albinism With Sensorineural Deafness
|
OASD
|
|
Deafness And Ocular Albinism
|
Ocular Albinism With Late-Onset Sensorineural Deafness
|
|
Albinism, Ocular, With Sensorineural Deafness
|
Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism
|
|
Digenic Waardenburg Syndrome/Albinism
|
Digenic Waardenburg Syndrome/Ocular Albinism
|
|
Ws2-Oa
|
Albinism Ocular Late Onset Sensorineural Deafness
|
|
Ocular Albinism With Late-Onset Sensorineural Hearing Loss
|
Waardenburg Syndrome/Ocular Albinism, Digenic
|
|
Waardenburg Syndrome/Albinism, Digenic
|
Ocular Albinism And Sensorineural Deafness
|
|
|
| Amenorrhea |
|
Absence Of Menstruation
|
Amenia
|
|
|
| Thrombocytopenia-Absent Radius Syndrome |
|
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
|
|
|
| Teeth Hard Tissue Disease |
|
|
| Baller-Gerold Syndrome |
|
BGS
|
Craniosynostosis With Radial Defects
|
|
Craniosynostosis-Radial Aplasia Syndrome
|
Craniosynostosis Radial Aplasia Syndrome
|
|
|
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Ehlers-Danlos Syndrome, Type 3
|
Ehlers-Danlos Syndrome, Type Iii
|
|
EDSHMB
|
Eds Iii
|
|
Benign Hypermobility Syndrome
|
Ehlers-Danlos Syndrome Hypermobility Type
|
|
Eds3
|
Type Iii Ehlers-Danlos Syndrome
|
|
Ehlers-Danlos Syndrome Type 3
|
Es-D3
|
|
|
| Disease Of Mental Health |
|
Mental Health
|
Mental Disorders
|
|
|
| Sorsby Fundus Dystrophy |
|
SFD
|
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
|
|
Sorsby'S Fundus Dystrophy
|
Macular Dystrophy, Hemorrhagic
|
|
Hemorrhagic Macular Dystrophy
|
Pseudoinflammatory Fundus Dystrophy Of Sorsby
|
|
Sorsby'S Pseudoinflammatory Macular Dystrophy
|
Sorsby Pseudoinflammatory Fundus Dystrophy
|
|
Dystrophy, Fundus, Sorsby
|
|
|
| Rapadilino Syndrome |
|
Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate
|
Radial And Patellar Aplasia
|
|
Radial And Patellar Hypoplasia
|
RAPADILINOS
|
|
|
| Ovarian Disease |
|
Ovarian Dysfunction
|
Ovarian Diseases
|
|
Ovarian Disorders
|
Disorder Of Endocrine Ovary
|
|
|
| Mosaic Variegated Aneuploidy Syndrome |
|
Warburton-Anyane-Yeboa Syndrome
|
Mva Syndrome
|
|
Mosaic Variegated Aneuplody Microcephaly Syndrome
|
Warburton Anyane Yeboa Syndrome
|
|
|
| Leukodystrophy, Hypomyelinating, 9 |
|
Hypomyelinating Leukodystrophy 9
|
HLD9
|
|
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
|
Leukodystrophy, Hypomyelinating, Type 9
|
|
|
| Aspartylglucosaminuria |
|
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
|
AGU
|
Aspartylglucosamidase Deficiency
|
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
|
Hyperammonemia, Type Iii
|
|
|
| Telangiectasis |
|
|
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Ccsf
|
Circumferential Skin Creases, Kunze Type
|
|
Congenital Circumferential Skin Folds
|
Kunze-Riehm Syndrome
|
|
Kunze Riehm Syndrome
|
Michelin Tire Baby Syndrome
|
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
DHRD
|
Doyne Honeycomb Degeneration Of Retina
|
|
Dhd
|
Malattia Leventinese
|
|
Ml
|
Mlvt
|
|
Dystrophy, Retinal, Doyne Honeycomb
|
|
|
| Cystic Lymphangioma |
|
Cystic Hygroma
|
Cavernous Lymphangioma
|
|
Macrocystic Lymphatic Malformation
|
Cavernous Lymphatic Malformation
|
|
Macrocystic Lymphangioma
|
Lymphangioma, Cystic
|
|
|
| Abcd Syndrome |
|
ABCDS
|
Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness
|
|
Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
Alpers Syndrome
|
Alpers-Huttenlocher Syndrome
|
|
Alpers Progressive Infantile Poliodystrophy
|
Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
|
|
Alpers Disease
|
Progressive Sclerosing Poliodystrophy
|
|
Pndc
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
MTDPS4A
|
Neuronal Degeneration Of Childhood With Liver Disease, Progressive
|
|
Alper'S Syndrome
|
Alpers' Disease Or Gray-Matter Degeneration
|
|
Diffuse Cerebral Degeneration In Infancy
|
Infantile Poliodystrophy
|
|
Poliodystrophia Cerebri Progressiva
|
Progressive Cerebral Poliodystrophy
|
|
Alpers' Disease
|
Alpers Progressive Sclerosing Poliodystrophy
|
|
Progressive Neuronal Degeneration Of Childhood With Liver Disease
|
Ahs
|
|
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
|
Neuronal Degeneration Of Childhood With Liver Disease Progressive
|
|
|
| Hair Disease |
|
Hair Diseases
|
Hair Anomaly
|
|
Hair Disorder
|
Hair Problems
|
|
|
| Refractive Error |
|
|
| Pelizaeus-Merzbacher Disease |
|
PMD
|
HLD1
|
|
Pelizaeus-Merzbacher Brain Sclerosis
|
Leukodystrophy, Hypomyelinating, 1
|
|
Diffuse Familial Brain Sclerosis
|
Pelizaeus Merzbacher Brain Sclerosis
|
|
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type
|
Cockayne-Pelizaeus-Merzbacher Disease
|
|
Hypomyelinating Leukodystrophy 1
|
Leukodystrophy, Sudanophilic
|
|
Pelizaeus Merzbacher Disease
|
Hypomyelinating Leukodystrophy, 1
|
|
Sudanophilic Leukodystrophy
|
Pelizaeus-Merzbacher Disease, Connatal Form
|
|
Connatal Pmd
|
Pelizaeus-Merzbacher Disease Type Ii
|
|
Severe Pmd
|
Null Syndrome
|
|
Plp1 Null Syndrome
|
Pelizaeus-Merzbacher Disease, Null Syndrome
|
|
Brain Sclerosis Diffuse Familial
|
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
|
|
Leukodystrophy Hypomyelinating 1
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
|
| Premature Ovarian Failure 1 |
|
Ovarian Failure, Premature
|
Fmr1-Related Primary Ovarian Insufficiency
|
|
Fragile X-Associated Primary Ovarian Insufficiency
|
POF1
|
|
Pofx
|
Hypergonadotropic Ovarian Failure, X-Linked
|
|
Pof
|
Primary Ovarian Insufficiency, Fragile X-Associated
|
|
Primary Ovarian Insufficiency 1
|
Ovarian Failure Premature
|
|
Premature Ovarian Failure, X-Linked
|
Fragile X Premature Ovarian Failure
|
|
Fmr1-Related Premature Ovarian Failure
|
Familial Premature Ovarian Failure
|
|
Idiopathic Familial Premature Ovarian Failure
|
Fxpoi
|
|
X-Linked Hypergonadotropic Ovarian Failure
|
Hypergonadotropic Ovarian Failure X-Linked
|
|
Poi
|
Premature Ovarian Failure X-Linked
|
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure-1
|
|
Ovarian Failure, Premature, Type 1
|
Premature Ovarian Failure, Familial
|
|
Premature Menopause
|
Primary Hypogonadism
|
|
Turner Syndrome
|
|
|
| Alternating Hemiplegia Of Childhood |
|
Alternating Hemiplegia
|
Ahc
|
|
Alternating Hemiplegia Syndrome
|
Hemiplegia, Alternating, Of Childhood
|
|
Hemiplegia, Crossed
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| 46 Xx Gonadal Dysgenesis |
|
Ovarian Dysgenesis
|
Gonadal Dysgenesis, 46,Xx
|
|
Dysgenesis, Ovarian
|
|
|
| Cornelia De Lange Syndrome 1 |
|
De Lange Syndrome
|
CDLS1
|
|
Cdl
|
Cdls
|
|
Typus Degenerativus Amstelodamensis
|
Brachmann-De Lange Syndrome
|
|
Bdls
|
Amstelodamensis Typus Degenerativus
|
|
Cornelia De Lange Syndrome, Type 1
|
|
|
| Retinal Drusen |
|
|
| Hutchinson-Gilford Progeria Syndrome |
|
Progeria
|
HGPS
|
|
Hutchinson-Gilford Syndrome
|
Hutchinson-Gilford Progeria
|
|
Hutchinson Gilford Syndrome
|
Hutchinson Gilford Progeria Syndrome
|
|
Hutchinson-Gilford Disease
|
Progeria Of Childhood
|
|
Hutchinson-Gilford-Progeria Syndrome
|
|
|
| Bart-Pumphrey Syndrome |
|
Knuckle Pads, Leukonychia, And Sensorineural Deafness
|
BAPS
|
|
Knuckle Pads, Leuconychia And Sensorineural Deafness
|
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
|
|
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome
|
Knuckle Pads, Deafness And Leukonychia Syndrome
|
|
Knuckle Pads, Deafness, And Leukonychia Syndrome
|
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome
|
|
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
|
|
|
| Riddle Syndrome |
|
RIDL
|
Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome
|
|
Rnf168 Deficiency
|
Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties
|
|
Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Retinal Disease |
|
Retinal Diseases
|
Retinal Disorder
|
|
Retinal Disorders
|
|
|
| Exotropia |
|
Divergent Concomitant Strabismus
|
Divergent Strabismus
|
|
Divergent Squint
|
External Strabismus
|
|
Xt - [Exotropia]
|
|
|
| Corneal Dystrophy, Avellino Type |
|
Avellino Corneal Dystrophy
|
CDA
|
|
Combined Granular-Lattice Corneal Dystrophy
|
Cgd2
|
|
Granular Corneal Dystrophy Type 2
|
Acd
|
|
Granular Corneal Dystrophy 2
|
Corneal Dystrophy Avellino Type
|
|
Granular Corneal Dystrophy Type Ii
|
Granular Corneal Dystrophy, Type Ii
|
|
Combined Granular-Lattice Corneal Dystrophies
|
Granular And Lattice Corneal Dystrophies
|
|
Granular-Lattice Corneal Dystrophy
|
Gcd2
|
|
Gcdii
|
Granular-Lattice Corneal Dystrophy
|
|
|
| Roberts-Sc Phocomelia Syndrome |
|
Roberts Syndrome
|
Sc Phocomelia Syndrome
|
|
RBS
|
Long Bone Deficiencies Associated With Cleft Lip-Palate
|
|
Sc Pseudothalidomide Syndrome
|
Appelt-Gerken-Lenz Syndrome
|
|
Pseudothalidomide Syndrome
|
Tetraphocomelia-Cleft Palate Syndrome
|
|
Hypomelia Hypotrichosis Facial Hemangioma Syndrome
|
Roberts Syndrome/Sc Phocomelia
|
|
Roberts Tetraphocomelia Syndrome
|
Sc Syndrome
|
|
Sc Phocomelia
|
Sc Disease
|
|
Sc
|
Hemoglobin Sc Disease
|
|
|
| Basal Ganglia Calcification |
|
Fahr'S Syndrome
|
Fahr'S Disease
|
|
Fahr Disease
|
|
|
| Basal Ganglia Disease |
|
Basal Ganglia Diseases
|
Basal Ganglia Disorders
|
|
Abnormality Of The Basal Ganglia
|
|
|
| Aicardi-Goutieres Syndrome |
|
Aicardi Goutieres Syndrome
|
Cree Encephalitis
|
|
Aicardi-Goutières Syndrome
|
Encephalopathy With Basal Ganglia Calcification
|
|
Ags
|
Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
|
|
Pseudotoxoplasmosis Syndrome
|
Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
|
|
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis
|
Aicardi-Goutieres Syndrome 1
|
|
|
| Variegate Porphyria |
|
Porphyria Variegata
|
Protoporphyrinogen Oxidase Deficiency
|
|
VP
|
Ppox Deficiency
|
|
Porphyria, South African Type
|
Porphyria Variegata, Susceptibility To
|
|
Protocoproporphyria
|
Porphyria Variegate
|
|
Porphyria South African Type
|
Pv
|
|
Porphyria, Variegate
|
Vp - [Variegate Porphyria]
|
|
|
| Paranoid Schizophrenia |
|
Chronic Paranoid Schizophrenia
|
Paranoid Type Schizophrenia
|
|
Paranoid Type Schizophrenia Subchronic State
|
Paraphrenia - Late
|
|
Paraphrenic Schizophrenia
|
Schizophrenia, Paranoid
|
|
|
| Shwachman-Diamond Syndrome 1 |
|
Shwachman-Diamond Syndrome
|
Shwachman Syndrome
|
|
Shwachman-Bodian-Diamond Syndrome
|
Sds
|
|
Pancreatic Insufficiency And Bone Marrow Dysfunction
|
Shwachman-Bodian Syndrome
|
|
SDS1
|
Lipomatosis Of Pancreas, Congenital
|
|
Congenital Lipomatosis Of Pancreas
|
Shwachman-Diamond Type Metaphyseal Dysplasia
|
|
Metaphyseal Chondrodysplasia, Shwachman Type
|
Shwachman-Diamond-Oski Syndrome
|
|
|
| Lesch-Nyhan Syndrome |
|
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
LNS
|
|
Hprt Deficiency
|
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
|
X-Linked Hyperuricemia
|
|
Choreoathetosis Self-Mutilation Syndrome
|
Hprt1 Deficiency
|
|
Hprt Deficiency, Complete
|
Deficiency Of Imp Pyrophosphorylase
|
|
Hgprt Deficiency
|
Lesch-Nyhan Disease
|
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
|
Hg-Prt Deficiency
|
|
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency
|
Lesch - Nyhan Syndrome
|
|
Hprt1 Disorders
|
Lesch Nyhan Syndrome
|
|
Complete Hprt Deficiency Complete
|
Lesch Nyhan Disease
|
|
Complete Hprt Deficiency
|
Deficiency Of Guanine Phosphoribosyltransferase
|
|
Deficiency Of Hypoxanthine Phosphoribosyltransferase
|
Hypoxanthine Phosphoribosyltransferase Deficiency
|
|
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
|
Juvenile Hyperuricemia Syndrome
|
|
Lnd
|
Primary Hyperuricemia Syndrome
|
|
Total Hprt Deficiency
|
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
|
|
X-Linked Primary Hyperuricemia
|
X-Linked Uric Aciduria Enzyme Defect
|
|
Hprt Complete Deficiency
|
Hprt Deficiency Grade Iv
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
|
|
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency
|
Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
|
|
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
|
|
|
| Megalocornea |
|
Isolated Congenital Megalocornea
|
Congenital Anterior Megalophthalmia
|
|
Anterior Megalophthalmos
|
Mgc1
|
|
Mgcn
|
Congenital Keratoglobus
|
|
|
| Seckel Syndrome |
|
Microcephalic Primordial Dwarfism
|
Bird-Headed Dwarfism
|
|
Harper'S Syndrome
|
Virchow-Seckel Dwarfism
|
|
Nanocephalic Dwarfism
|
Sckl
|
|
Seckel-Type Dwarfism
|
|
|
| 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
|
|
|
| Cerebrooculofacioskeletal Syndrome 2 |
|
COFS2
|
Cerebro-Oculo-Facio-Skeletal Syndrome 2
|
|
Cofs Syndrome
|
|
|
| Lynch Syndrome |
|
Hereditary Nonpolyposis Colon Cancer
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
Hereditary Nonpolyposis Colorectal Carcinoma
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
Familial Nonpolyposis Colon Cancer
|
Hnpcc
|
|
Coca 1
|
Hereditary Defective Mismatch Repair Syndrome
|
|
Hereditary Non-Polyposis Colon Cancer
|
Hereditary Non-Polyposis Colon Cancer Syndrome
|
|
Hereditary Non-Polyposis Colorectal Cancer
|
Hereditary Non-Polyposis Colorectal Cancer Syndrome
|
|
Hereditary Nonpolyposis Colon Cancer Syndrome
|
Hereditary Nonpolyposis Colorectal Cancer Syndrome
|
|
Hereditary Nonpolyposis Colorectal Neoplasm
|
Hnpcc - Hereditary Nonpolyposis Colon Cancer
|
|
Cancer Family Syndrome
|
Familial Nonpolyposis Colorectal Cancer
|
|
Colon Cancer, Familial Nonpolyposis
|
Colorectal Neoplasms, Hereditary Nonpolyposis
|
|
Cancer, Colorectal, Nonpolyposis, Hereditary
|
Colorectal Cancer, Hereditary Nonpolyposis, Type 1
|
|
|
| Purine-Pyrimidine Metabolic Disorder |
|
Inborn Errors Of Purine-Pyrimidine Metabolism
|
Disorder Of Purine Or Pyrimidine Metabolism
|
|
|
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
ALS2
|
Als, Juvenile
|
|
Alsj
|
Amyotrophic Lateral Sclerosis Type 2
|
|
Amyotrophic Lateral Sclerosis 2
|
Amyotrophic Lateral Sclerosis Type 2, Juvenile
|
|
Amyotrophic Lateral Sclerosis Juvenile
|
Amyotrophic Lateral Sclerosis Juvenile 2
|
|
Sclerosis, Lateral, Amyotrophic, Type Type 2
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Phacogenic Glaucoma |
|
|
| Central Nervous System Disease |
|
Cns Disorder
|
CNS
|
|
Cns Diseases
|
Central Nervous System Diseases
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Testicular Disease |
|
Testicular Dysfunction
|
Testicular Diseases
|
|
Disorder Of Testis
|
Testis Disorder
|
|
Testicular Disorders
|
|
|
| Muscle Tissue Disease |
|
|
| Acrofacial Dysostosis |
|
|
| Hypomyelinating Leukodystrophy |
|
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
| Aplastic Anemia |
|
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
|
Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
|
Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
|
AA
|
Anemia, Aplastic
|
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
|
Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
|
Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
|
Hypoplastic Anaemia Nos
|
Myeloid Bone Marrow Aplasia
|
|
Pancytopenia
|
Panhaematopenia
|
|
Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
|
Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
|
Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
|
Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
|
| Spastic Quadriplegia |
|
Spastic Quadriplegic Cerebral Palsy
|
Quadriplegic Infantile Cerebral Palsy
|
|
Tetraplegic Infantile Cerebral Palsy
|
Cerebral Palsy Spastic Quadriplegic
|
|
Quadriplegic Cerebral Palsy
|
Spastic Quadriplegia Cerebral Palsy
|
|
Spastic Tetraplegia Cerebral Palsy
|
Cerebral Palsy, Quadriplegic, Infantile
|
|
Cerebral Palsy With Spastic Tetraplegia
|
Congenital Spastic Quadriplegia
|
|
Spastic Tetraplegic Cerebral Palsy
|
Congenital Quadriplegia Nos
|
|
Tetraplegic Cerebral Palsy
|
|
|
| Nijmegen Breakage Syndrome |
|
Berlin Breakage Syndrome
|
NBS
|
|
Microcephaly, Normal Intelligence And Immunodeficiency
|
Ataxia-Telangiectasia Variant
|
|
Ataxia-Telangiectasia Variant V1
|
Seemanova Syndrome Ii
|
|
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome
|
Seemanova Syndrome Type 2
|
|
At-V1
|
Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
|
|
Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence
|
Immunodeficiency, Microcephaly, And Chromosomal Instability
|
|
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome
|
Microcephaly Immunodeficiency Lymphoreticuloma
|
|
Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies
|
Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
|
|
Seemanova Syndrome 2
|
Ataxia-Telangiectasia Variant 1
|
|
Seemanova Syndrome
|
At V1
|
|
Ataxia-Telangiectasia, Variant 1
|
Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
|
|
V-At
|
Ataxia Telangiectasia Variant V1
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Normal Pressure Hydrocephalus |
|
Low Pressure Hydrocephalus
|
Hydrocephalus Normal Pressure
|
|
Hydrocephalus, Normal Pressure
|
Normal Pressure Hydrocephalus Nos
|
|
Nph - [Normal Pressure Hydrocephalus]
|
Normal Pressure Hydrocephaly
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Peripheral Vascular Disease |
|
Peripheral Arterial Disease
|
Arterial Occlusive Disease
|
|
Arterial Occlusive Diseases
|
Pad
|
|
Peripheral Vascular Diseases
|
Peripheral Occlusive Disease
|
|
Peripheral Arterial Diseases
|
Helicobacter Infections
|
|
|
| Ocular Motility Disease |
|
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
|
Eye Movement Disorders
|
|
|
| Familial Adenomatous Polyposis 2 |
|
Mutyh-Related Attenuated Familial Adenomatous Polyposis
|
FAP2
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Adenomas, Multiple Colorectal
|
|
Mutyh-Associated Polyposis
|
Mutyh-Related Attenuated Familial Polyposis Coli
|
|
Mutyh-Related Attenuated Fap
|
Adenomas, Multiple Colorectal, Autosomal Recessive
|
|
Mutyh-Related Afap
|
Adenomas Multiple Colorectal Autosomal Recessive
|
|
Colorectal Adenomatous Polyposis Autosomal Recessive
|
Adenomatous Polyposis, Familial, Type 2
|
|
|
| Muscular Disease |
|
|
| Sporadic Breast Cancer |
|
Sporadic Breast Carcinoma
|
|
|
| Lethal Congenital Contracture Syndrome |
|
Lccs
|
Lethal Congenital Contracture Syndrome 1
|
|
|
| Ovarian Cystadenocarcinoma |
|
Cystadenocarcinoma Of Ovary
|
Cystadenocarcinoma Of The Ovary
|
|
|
| Machado-Joseph Disease |
|
SCA3
|
MJD
|
|
Spinocerebellar Ataxia 3
|
Azorean Disease
|
|
Spinocerebellar Ataxia Type 3
|
Spinocerebellar Atrophy
|
|
Azorean Neurologic Disease
|
Spinopontine Atrophy
|
|
Nigrospinodentatal Degeneration
|
Spinocerebellar Atrophy Iii
|
|
Spinocerebellar Atrophy Type 3
|
Azorean Ataxia
|
|
Azorean Disease Of The Nervous System
|
Machado Disease
|
|
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia
|
Disease, Machado-Joseph
|
|
Ataxia, Spinocerebellar
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Corneal Disease |
|
Corneal Diseases
|
Corneal Disorders
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Communicating Hydrocephalus |
|
Acquired Communicating Hydrocephalus
|
|
|
| Bladder Disease |
|
Bladder Diseases
|
Urinary Bladder Diseases
|
|
Urinary Bladder Disease
|
|
|
| Dyskeratosis Congenita |
|
Dyskeratosis Congenita Autosomal Dominant
|
Dc
|
|
Dkc
|
Zinsser-Engman-Cole Syndrome
|
|
Dyskeratosis Congenita, Autosomal Dominant
|
Autosomal Dominant Dyskeratosis Congenita
|
|
Dkca
|
Dyskeratosis Congenita Scoggins Type
|
|
Zinsser-Cole-Engman Syndrome
|
X-Linked Dyskeratosis Congenita
|
|
Hoyeraal-Hreidarsson Syndrome
|
|
|
| Bone Development Disease |
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Myotonic Disease |
|
Myotonic Disorders
|
Myotonic Syndrome
|
|
Symptomatic Myotonia
|
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
| Endocrine System Disease |
|
Abnormality Of The Endocrine System
|
Disorder Of Endocrine System
|
|
Endocrine System Diseases
|
|
|
| Female Reproductive System Disease |
|
Genital Diseases, Female
|
Female Reproductive System Disorder
|
|
|
| Uveal Disease |
|
|
| Deficiency Anemia |
|
Anemia
|
Deficiency Anemias
|
|
Anaemia
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Leukocyte Disease |
|
|
| Cowden Syndrome |
|
Cowden Disease
|
Multiple Hamartoma Syndrome
|
|
Cowden'S Disease
|
Lhermitte-Duclos Disease
|
|
Cd
|
Cs
|
|
Mham
|
Dysplastic Gangliocytoma Of Cerebellum
|
|
Cowden'S Syndrome
|
Hamartoma Syndrome, Multiple
|
|
|
| Blood Coagulation Disease |
|
Blood Coagulation Disorders
|
Coagulation Protein Disease
|
|
Inherited Blood Coagulation Disease
|
Postpartum Coagulation Defect
|
|
Postpartum Coagulation Defect With Delivery
|
Coagulation Protein Disorders
|
|
Puerperal Coagulopathy
|
|
|
| Ovarian Serous Cystadenocarcinoma |
|
Serous Cystadenoma
|
Cystadenoma Serous
|
|
Cystadenoma, Serous
|
|
|
| Premature Menopause |
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure
|
|
Hypergonadotropic Hypogonadism
|
Premature Ovarian Insufficiency
|
|
Menopause - Premature
|
Menopause Praecox
|
|
Menopause Premature
|
Menopause, Premature
|
|
Female Hypergonadotropic Hypogonadism
|
Hypergonadotrophic Ovarian Failure
|
|
Primary Female Hypogonadism
|
Pof - [Premature Ovarian Failure]
|
|
Ovarian Failure
|
Ovarian Secretion Suppression
|
|
Ovary Hyposecretion
|
Ovary Secretion Deficiency
|
|
Premature Menopause Nos
|
|
|
| Intestinal Benign Neoplasm |
|
Intestinal Neoplasms
|
Intestinal Tumors
|
|
Intestine Growth
|
Neoplasm Of Intestinal Tract
|
|
|
| Blood Platelet Disease |
|
Platelet Disorder
|
Blood Platelet Disorders
|
|
Thrombocytopathy
|
Platelet Dysfunction
|
|
Platelet Disorders
|
Qualitative Platelet Deficiency
|
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Disorders Of Sex Development
|
|
Sex Development Disorder
|
Sex Differentiation Disease
|
|
Dsd
|
Sex Differentiation Disorders
|
|
|
| Reproductive System Disease |
|
Abnormality Of The Genital System
|
Genital System Disease
|
|
Reproductive System Disorder
|
|
|
| Primary Microcephaly |
|
True Microcephaly
|
Microcephaly, Primary
|
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
DRPLA
|
Naito-Oyanagi Disease
|
|
Haw River Syndrome
|
Myoclonic Epilepsy With Choreoathetosis
|
|
Nod
|
Ataxia, Chorea, Seizures, And Dementia
|
|
Dentatorubropallidoluysian Atrophy
|
Hrs
|
|
Naito Oyanagi Disease
|
Dentatorubral Pallidoluysian Atrophy
|
|
Dentatorubro-Pallidoluysian Atrophy
|
Myoclonic Epilepsies, Progressive
|
|
Atrophy, Pallidoluysian, Dentatorubral
|
|
|
| Orofacial Cleft |
|
|
| Treacher Collins Syndrome 1 |
|
Treacher Collins Syndrome
|
Mandibulofacial Dysostosis
|
|
Treacher Collins-Franceschetti Syndrome
|
Tcof
|
|
Tcs
|
Mfd1
|
|
Franceschetti-Klein Syndrome
|
TCS1
|
|
Franceschetti Syndrome
|
Franceschetti-Zwahlen-Klein Syndrome
|
|
Zygoauromandibular Dysplasia
|
Treacher-Collins Syndrome
|
|
Mandibulofacial Dysostosis Without Limb Anomalies
|
Bilateral And Symmetric Oto-Mandibular Dysplasia
|
|
|
| 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
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
|
Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Myotonic Dystrophy 1 |
|
Myotonic Dystrophy
|
Dystrophia Myotonica
|
|
Steinert Disease
|
Myotonic Dystrophy Type 1
|
|
Myotonia Atrophica
|
DM1
|
|
Congenital Myotonic Dystrophy
|
Myotonia Dystrophica
|
|
Steinert Myotonic Dystrophy
|
Dystrophia Myotonica 1
|
|
Dm
|
Steinert'S Disease
|
|
Steinert Myotonic Dystrophy Syndrome
|
Myotonic Dystrophy Of Steinert
|
|
Dystrophia Myotonica Type 1
|
Myotonic Dystrophy Congenital
|
|
Dystrophy, Myotonic, Type 1
|
Dm - [Dystrophia Myotonica]
|
|
Myotonic Muscular Dystrophy
|
|
|
| Disease By Infectious Agent |
|
Infectious Disease
|
Infectious Diseases
|
|
|
| Lymphangioma |
|
Lymphatic Malformation
|
Lymphatic Malformations
|
|
Benign Lymphangioma
|
Congenital Lymphangioma
|
|
Lymphangiomas
|
|
|
| Respiratory System Disease |
|
Abnormality Of The Respiratory System
|
Respiration Disorders
|
|
Respiratory Tract Diseases
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Urinary System Disease |
|
Abnormality Of The Urinary System
|
Non-Neoplastic Urinary Tract Disease
|
|
Urinary Tract Disease
|
Urinary Tract Diseases
|
|
Urinary Tract Anomaly
|
Urologic Diseases
|
|
Non-Neoplastic Urinary System Disorder
|
Congenital Malformation Of The Urinary System
|
|
|
| Leukodystrophy |
|
|
| Malignant Ovarian Surface Epithelial-Stromal Neoplasm |
|
Malignant Ovarian Surface Epithelial-Stromal Tumor
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Ovary Adenocarcinoma |
|
Ovarian Adenocarcinoma
|
Adenocarcinoma Of The Ovary
|
|
Ovarian Adenoacanthoma
|
Adenocarcinoma Of Ovary
|
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
|
Costeff Syndrome
|
Mga3
|
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
|
MGCA3
|
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
|
Second Cranium Nerve Atrophy
|
|
|
| Bone Structure Disease |
|
|
| Head And Neck Cancer |
|
Head And Neck Neoplasm
|
Head And Neck Tumours
|
|
Head/Neck Neoplasm
|
Tumor Of Head And Neck
|
|
Head And Neck Neoplasms
|
Hnc
|
|
Cancer, Head/Neck
|
|
|
| Testicular Cancer |
|
Testis Cancer
|
Testicular Carcinoma
|
|
Testicular Neoplasms
|
Malignant Neoplasm Of Testis
|
|
Childhood Neoplasm Of The Testis
|
Neoplasm Of Testis
|
|
Pediatric Testicular Neoplasm
|
Testicular Tumor
|
|
Testis Neoplasm
|
Testicular Tumors
|
|
Testicular Neoplasm
|
Testicular Malignant Germ Cell Tumor
|
|
Childhood Testicular Neoplasm
|
Carcinoma Of The Testis
|
|
Cancer Of Testis
|
Malignant Neoplasm Of Testis, Nos
|
|
Malignant Neoplasm Of Testis, Unspecified
|
Malignant Tumour Of Testis
|
|
Testicle Cancer
|
Primary Malignant Neoplasm Of Testis
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
Hereditary Breast And Ovarian Cancer Syndrome
|
Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
|
|
Breast And/Or Ovarian Cancer
|
Breast And Ovarian Cancer Syndrome
|
|
Hboc Syndrome
|
Hereditary Breast And Ovarian Cancer
|
|
Brca1- Brca2-Associated Hboc
|
|
|
| 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
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Basal Cell Carcinoma |
|
Basal Cell Cancer
|
Basal Cell Neoplasm
|
|
Basal Cell Carcinoma Of Skin
|
Malignant Basal Cell Tumor
|
|
Basal Cell Tumor
|
Epithelioma Basal Cell
|
|
Malignant Basal Cell Neoplasm
|
Rodent Ulcer
|
|
Carcinoma Basal Cell
|
Neoplasms, Basal Cell
|
|
Basal Cell Carcinomas
|
Experimental Organism Basal Cell Carcinoma
|
|
Nodulo-Ulcerative Basal Cell Carcinoma
|
Basalioma
|
|
Basal Cell Epithelioma Of Skin
|
Bcc - [Basal Cell Carcinoma] Of Skin
|
|
Rodent Ulcer Of Skin
|
Rodent Ulcer Of Unspecified Site
|
|
Basal Cell Epithelioma Of Unspecified Site
|
|
|
| Melanoma, Uveal |
|
Uveal Melanoma
|
Choroidal Melanoma
|
|
Melanoma Of Uvea
|
Iris Melanoma
|
|
Malignant Melanoma Of Choroid
|
Malignant Melanoma Of Iris
|
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
Renal Cell Carcinoma
|
RCC
|
|
Nonpapillary Renal Cell Carcinoma
|
Clear Cell Renal Cell Carcinoma
|
|
Hypernephroma
|
Adenocarcinoma Of Kidney
|
|
Renal Carcinoma, Chromophobe, Somatic
|
Clear Cell Carcinoma Of Kidney
|
|
Clear-Cell Metastatic Renal Cell Carcinoma
|
Clear Cell Renal Carcinoma
|
|
Renal Cell Carcinoma, Somatic
|
Conventional Renal Cell Carcinoma
|
|
Conventional Renal Cell Carcinoma
|
Renal Clear Cell Carcinoma
|
|
Ccrcc
|
Hereditary Clear Cell Renal Cell Carcinoma
|
|
Carcinoma, Renal Cell
|
Renal Cell Carcinoma, Clear Cell, Somatic
|
|
Renal Cell Carcinoma, Clear Cell
|
Clear Cell Kidney Carcinoma
|
|
Clear Cell Rcc
|
Cystic-Multilocular Variant
|
|
Clear Cell Renal Cell Adenocarcinoma
|
Hereditary Clear Cell Renal Cell Adenocarcinoma
|
|
Common Renal Cell Carcinoma
|
Crcc
|
|
Renal Cell Carcinoma Non-Papillary
|
Carcinoma Renal Cell
|
|
Renal Cell Cancer
|
Carcinoma, Renal Cell, Nonpapillary
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Huntington Disease |
|
Huntington'S Disease
|
Huntington Chorea
|
|
Huntington'S Chorea
|
HD
|
|
Huntington Chronic Progressive Hereditary Chorea
|
Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
|
Chronic Progressive Hereditary Chorea
|
|
Hc - [Huntington Chorea]
|
Hereditary Chorea
|
|
Progressive Hereditary Chorea
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| 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
|
|
|
| Leukemia, Acute Myeloid |
|
Acute Myeloid Leukemia
|
Leukemia, Acute Myelogenous
|
|
Acute Myelogenous Leukemia
|
AML
|
|
Leukemia, Acute Myeloid, Susceptibility To
|
Acute Myeloblastic Leukemia
|
|
Leukemia, Acute Myeloid, Reduced Survival In, Somatic
|
Acute Myeloid Leukaemia
|
|
Leukemia, Myelocytic, Acute
|
Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
|
Secondary Aml
|
Acute Myelocytic Leukemia
|
|
Acute Myeloid Leukemia, Somatic
|
Leukemia, Acute Myeloid, Somatic
|
|
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
|
Acute Myeloblastic Leukaemia
|
|
Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
|
|
Acute Myeloid Leukemia With Cebpa Somatic Mutations
|
Aml With Cebpa Somatic Mutations
|
|
Inherited Acute Myeloid Leukemia
|
Familial Aml
|
|
Inherited Aml
|
Pure Familial Aml
|
|
Pure Familial Acute Myeloid Leukemia
|
Secondary Acute Myeloid Leukemia
|
|
Therapy-Related Aml And Myelodysplastic Syndrome
|
Acute Myeloid Leukemia, Secondary
|
|
Acute Non-Lymphoblastic Leukemia
|
Acute Non-Lymphocytic Leukemia
|
|
Acute Biphenotypic Leukemia
|
Acute Undifferentiated Leukemia
|
|
Acute Myeloblastic Leukaemia With Multilineage Dysplasia
|
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
|
|
Acute Myeloid Leukaemia With Myelodysplasia-Related Features
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
OBESITY
|
Obesity, Susceptibility To
|
|
Leanness, Inherited
|
Obesity, Susceptibility To, Bmiq11
|
|
Obesity, Mild, Early-Onset
|
Obesity, Association With
|
|
Obesity, Early-Onset, Susceptibility To
|
Obesity, Severe
|
|
Obesity, Severe, And Type Ii Diabetes
|
Obesity, Late-Onset
|
|
Obesity , Susceptibility To
|
BMIQ11
|
|
Obesity Bmiq11
|
Obesity, Early-Onset
|
|
Simple Obesity Nos
|
Excess Fat
|
|
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified
|
Adiposis
|
|
|
