| Diseases |
Alias |
|
| Genitopatellar Syndrome |
|
GTPTS
|
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, And Mental Retardation
|
|
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome
|
Gps
|
|
|
| Ohdo Syndrome, Sbbys Variant |
|
Say-Barber-Biesecker-Young-Simpson Syndrome
|
SBBYSS
|
|
Young-Simpson Syndrome
|
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
|
|
Yss
|
Sbbys Variant Of Ohdo Syndrome
|
|
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type
|
Young Simpson Syndrome
|
|
Sbbyss Syndrome
|
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
|
|
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type
|
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
|
|
Bmrs Sbbys
|
Ohdo Syndrome, Say-Barber-Biesecker Variant
|
|
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome
|
Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
|
|
Say-Barber-Biesecker Variant Of Ohdo Syndrome
|
|
|
| Ohdo Syndrome |
|
Young Simpson Syndrome
|
Ohdo Blepharophimosis Syndrome
|
|
Blepharophimosis Syndrome Ohdo Type
|
Blepharophimosis Intellectual Disability Syndromes
|
|
Bmrs
|
Blepharophimosis-Intellectual Disability Syndrome
|
|
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth
|
Sbbys Syndrome
|
|
Say Barber Biesecker Young-Simpson Syndrome
|
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
|
|
Bmrs, Ohdo Type
|
Blepharophimosis Syndrome, Ohdo Type
|
|
Ohdo-Madokoro-Sonoda Syndrome
|
Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
|
|
Blepharophimosis - Intellectual Disability Syndrome
|
|
|
| Kat6b-Related Multiple Congenital Anomalies Syndrome |
|
Kat6b-Related Disorder
|
Kat6b-Related Disorders
|
|
|
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
PADMAL
|
Dementia, Hereditary Multi-Infarct, Swedish Type
|
|
Pontine Autosomal Dominant Microangiopathy With Leukoencephalopathy
|
|
|
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
BSVD1
|
Gould Syndrome 1
|
|
Hemiplegia, Infantile, With Porencephaly
|
Brain Small Vessel Disease With Hemorrhage
|
|
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant
|
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
|
|
Leukoencephalopathy With Axenfeld-Rieger Anomaly
|
Porencephaly, Type 1, Formerly
|
|
T1p, Formerly
|
Porencephaly, Type 1, Autosomal Dominant, Formerly
|
|
Adt1p, Formerly
|
Porencephaly 1, Formerly
|
|
Poren1, Formerly
|
Brain Small Vessel Disease With Or Without Ocular Anomalies
|
|
Adt1p
|
Hemiplegia Infantile With Porencephaly Type 1
|
|
Poren1
|
Porencephaly 1
|
|
Porencephaly Type 1
|
Porencephaly Type 1 Autosomal Dominant
|
|
T1p
|
Porencephaly, Familial
|
|
|
| Retinal Arteries, Tortuosity Of |
|
Retinal Arterial Tortuosity
|
Retinal Hemorrhage With Vascular Tortuosity
|
|
RATOR
|
Tortuosity Of Retinal Arteries
|
|
Retinal Arteriolar Tortuosity
|
Familial Isolated Retinal Arterial Tortuosity
|
|
Tortuosity, Arteries, Retinal
|
|
|
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome
|
HANAC
|
|
Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps Syndrome
|
Hanac Syndrome
|
|
Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome
|
Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures
|
|
Hereditary Angiopathy With Nephropathy, Aneurysm, And Muscle Cramps Syndrome
|
Hereditary Angiopathy With Nephropathy Aneurysms And Muscle Cramps
|
|
|
| Epilepsy, Familial Temporal Lobe, 1 |
|
ETL1
|
Adpeaf
|
|
Adlte
|
Epilepsy, Partial, With Auditory Features
|
|
Autosomal Dominant Partial Epilepsy With Auditory Features
|
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
|
|
Familial Temporal Lobe Epilepsy 1
|
Partial Epilepsy With Auditory Features
|
|
Autosomal Dominant Lateral Temporal Lobe Epilepsy
|
Lateral Temporal Lobe Epilepsy Autosomal Dominant
|
|
Epilepsy, Temporal Lobe, Familial, Type 1
|
|
|
| Kbg Syndrome |
|
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
| Hemorrhage, Intracerebral |
|
Intracerebral Hemorrhage
|
Hemorrhagic Stroke
|
|
ICH
|
Hemorrhage, Intracerebral, Susceptibility To
|
|
Stroke, Hemorrhagic
|
Stroke, Hemorrhagic, Susceptibility To
|
|
Brain Hemorrhage
|
|
|
| Blepharophimosis |
|
|
| Monocytic Leukemia |
|
Monocytic Leukaemia
|
Schilling'S Leukaemia
|
|
Schilling'S Leukemia
|
M5b Acute Differentiated Monocytic Leukemia
|
|
|
| Telecanthus |
|
|
| Renal Hypoplasia |
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| 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
|
|
|
| Epicanthus |
|
|
| Vesicoureteral Reflux |
|
|
| Talipes Equinovarus |
|
Congenital Equinovarus
|
Congenital Talipes Equinovarus
|
|
Equinovarus
|
Congenital Varus Clubfoot
|
|
|
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
CCF
|
Familial Clubfoot Due To 5q31 Microdeletion
|
|
Familial Clubfoot Due To Pitx1 Point Mutation
|
Hereditary Clubfoot Due To Pitx1 Point Mutation
|
|
Hereditary Clubfoot Due To 5q31 Microdeletion
|
Talipes Equinovarus
|
|
Tev
|
Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
|
|
|
| Hypertelorism |
|
Eyes Wide Apart
|
Eyes Widely Set
|
|
Hypertelorism Of Orbit
|
Ocular Hypertelorism
|
|
Orbital Separation Excessive
|
|
|
| Cakut |
|
Renal Or Urinary Tract Malformation
|
Congenital Anomalies Of Kidney And Urinary Tract
|
|
Congenital Anomaly Of Kidney And Urinary Tract
|
Congenital Anomalies Of The Kidney And Urinary Tract
|
|
Kidney And Urinary Tract, Anomalies, Congenital
|
Renal Hypodysplasia, Nonsyndromic, 1
|
|
|
| Cornelia De Lange Syndrome 5 |
|
CDLS5
|
Cornelia De Lange Syndrome, Type 5
|
|
|
| 46,Xx Sex Reversal 3 |
|
SRXX3
|
Chromosome Xq26 Duplication Syndrome
|
|
46,Xx Sex Reversal, Sox3-Related
|
46xx Sex Reversal 3
|
|
46,Xx Male Sex Reversal Sox3-Related
|
|
|
| Eyelid Disease |
|
Eyelid Diseases
|
Eyelid Disorders
|
|
|
| Arboleda-Tham Syndrome |
|
Kat6a Syndrome
|
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
|
|
ARTHS
|
Mrd32
|
|
Mental Retardation, Autosomal Dominant 32, Formerly
|
Mrd32, Formerly
|
|
Autosomal Dominant Mental Retardation 32
|
Autosomal Dominant Non-Syndromic Intellectual Disability 32
|
|
Arboleda-Tham
|
|
|
| Basilicata-Akhtar Syndrome |
|
Mrxs36
|
MRXSBA
|
|
Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type
|
Mental Retardation, X-Linked, Syndromic 36
|
|
X-Linked Syndromic Mental Retardation 36
|
X-Linked Syndromic Mental Retardation Basilicata-Akhtar Type
|
|
|
| Syndromic X-Linked Intellectual Disability Nascimento Type |
|
Mental Retardation, X-Linked Syndromic, Nascimento-Type
|
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 93 |
|
Mrx93
|
X-Linked Mental Retardation With Macrocephaly
|
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
|
Rts
|
|
|
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Kallmann Syndrome 2
|
Kal2
|
|
HH2
|
Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
|
|
|
| Floating-Harbor Syndrome |
|
FLHS
|
Fhs
|
|
Pelletier-Leisti Syndrome
|
Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes
|
|
Leisti-Hollander-Rimoin Syndrome
|
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Mental Retardation, X-Linked 3
|
Methylmalonic Acidemia With Homocystinuria, Type Cblx
|
|
MAHCX
|
Intellectual Developmental Disorder, X-Linked 3
|
|
Xlid3
|
Mrx3
|
|
Methylmalonic Acidemia And Homocysteinemia Cblx Type
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
|
|
Methylmalonic Aciduria With Homocystinuria, Type Cblx
|
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
|
|
Methylmalonic Aciduria And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia , Cblx Type
|
|
Mental Retardation, X-Linked, Type 3
|
|
|
| Laryngomalacia |
|
Congenital Laryngomalacia
|
Congenital Laryngeal Stridor
|
|
Laryngomalacia Congenital
|
Floppy Epiglottis
|
|
|
| Hermaphroditism |
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
Cardiofaciocutaneous Syndrome
|
Cfc Syndrome
|
|
Cardio-Facio-Cutaneous Syndrome
|
CFC1
|
|
Cfcs
|
Cardio-Facial-Cutaneous Syndrome
|
|
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
|
Cardiofaciocutaneous Syndrome, Type 1
|
|
|
| Scoliosis |
|
|
| Kabuki Syndrome 1 |
|
Kabuki Syndrome
|
Niikawa-Kuroki Syndrome
|
|
Kabuki Make-Up Syndrome
|
Kms
|
|
KABUK1
|
Kabuki Make Up Syndrome
|
|
Nks
|
Kabuki Makeup Syndrome
|
|
Kabuki Syndrome, Type 1
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
