| Diseases |
Alias |
|
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
|
| Orofaciodigital Syndrome Vii |
|
OFD7
|
Whelan Syndrome
|
|
Ofds Vii
|
Oral-Facial-Digital Syndrome, Type Vii
|
|
|
| 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
|
|
|
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative Disorder With Eosinophilia
|
MPE
|
|
Emp
|
Eosinophils, Malignant Proliferation Of
|
|
Chronic Myeloproliferative Disorder With Eosinophilia
|
Chronic Myeloproliferative Disease, Unclassifiable
|
|
Cmpd-U
|
Undifferentiated Myeloproliferative Disease
|
|
Myeloproliferative Disorder Chronic With Eosinophilia
|
Malignant Proliferation Of Eosinophils
|
|
Myeloproliferative Neoplasm, Unclassifiable
|
|
|
| Seckel Syndrome 4 |
|
SCKL4
|
Seckel Syndrome, Type 4
|
|
|
| Seckel Syndrome 2 |
|
SCKL2
|
Seckel-Type Dwarfism 2
|
|
Microcephalic Primordial Dwarfism 2
|
Bird-Headed Dwarfism 2
|
|
Seckel Syndrome, Type 2
|
|
|
| Joubert Syndrome 23 |
|
JBTS23
|
Joubert Syndrome, Type 23
|
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Mosaic Variegated Aneuploidy Syndrome |
|
Warburton-Anyane-Yeboa Syndrome
|
Mva Syndrome
|
|
Mosaic Variegated Aneuplody Microcephaly Syndrome
|
Warburton Anyane Yeboa Syndrome
|
|
|
| Joubert Syndrome 21 |
|
JBTS21
|
Joubert Syndrome, Type 21
|
|
|
| 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
|
|
|
| Seckel Syndrome |
|
Microcephalic Primordial Dwarfism
|
Bird-Headed Dwarfism
|
|
Harper'S Syndrome
|
Virchow-Seckel Dwarfism
|
|
Nanocephalic Dwarfism
|
Sckl
|
|
Seckel-Type Dwarfism
|
|
|
| Leber Congenital Amaurosis 10 |
|
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
| Usher Syndrome, Type I |
|
USH1
|
Usher Syndrome Type 1
|
|
Us1
|
Usher Syndrome, Type 1b
|
|
Usher Syndrome Type 1e
|
Retinitis Pigmentosa And Congenital Deafness
|
|
Usher Syndrome, Type Ie
|
USH1E
|
|
Usher Syndrome, Type 1e
|
Usher Syndrome, Type 1a
|
|
Usher Syndrome, Type Ib
|
Usher Syndrome Type 1b
|
|
Usher Syndrome Type Ie
|
Usher Syndrome Type I
|
|
Usher 1
|
Usher Syndrome, Type 1
|
|
Ush1a
|
Usher Syndrome, Type I, French Variety
|
|
Usher Syndrome, Type Ia
|
Usher Syndrome 1b
|
|
USH1B
|
Usher'S Syndrome Type 1b
|
|
Usher Syndrome Type Ib
|
Ushib
|
|
|
| Joubert Syndrome 5 |
|
JBTS5
|
Joubert Syndrome, Type 5
|
|
|
| Primary Autosomal Recessive Microcephaly |
|
Autosomal Recessive Primary Microcephaly
|
Mcph
|
|
True Microcephaly
|
Microcephalia Vera
|
|
Microcephaly Vera
|
Microcephaly Primary Hereditary
|
|
Microcephaly, Primary, Autosomal Recessive
|
Primary Microcephaly
|
|
|
| Primary Microcephaly |
|
True Microcephaly
|
Microcephaly, Primary
|
|
|
| Joubert Syndrome 3 |
|
JBTS3
|
Joubert Syndrome With Ocular Defect
|
|
Joubert Syndrome With Ocular Anomalies
|
Js-O
|
|
Joubert Syndrome With Retinopathy
|
Joubert Syndrome-3
|
|
Joubert Syndrome, Type 3
|
|
|
| Orofaciodigital Syndrome |
|
Oral-Facial-Digital Syndrome
|
Orofaciodigital Syndromes
|
|
Ofd
|
Oral Facial Digital Syndromes
|
|
Oral-Facial-Digital Syndromes
|
Dysplasia Linguofacialis
|
|
Ofds
|
Oro-Facio-Digital Syndrome
|
|
Orodigitofacial Dysostosis
|
Orodigitofacial Syndrome
|
|
Oral Facial Digital Syndrome
|
Orofaciodigital Syndrome I
|
|
|
| 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
|
|
|
| Senior-Loken Syndrome 1 |
|
Senior-Loken Syndrome
|
Renal Dysplasia And Retinal Aplasia
|
|
Renal-Retinal Syndrome
|
Loken-Senior Syndrome
|
|
Juvenile Nephronophthisis With Leber Amaurosis
|
SLSN1
|
|
Senior-Loken Syndrome-1
|
Loken Senior Syndrome
|
|
Senior Loken Syndrome
|
Renal Dysplasia Retinal Aplasia
|
|
Nephronophthisis With Retinal Dystrophy
|
Renal Dysplasia-Retinal Aplasia Syndrome
|
|
Slsn
|
|
|
| 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
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
|
Asphyxiating Thoracic Dysplasia
|
Short-Rib Thoracic Dysplasia With Or Without Polydactyly
|
|
Thoracic Pelvic Phalangeal Dystrophy
|
Asphyxiating Thoracic Chondrodystrophy
|
|
Atd
|
Chondroectodermal Dysplasia-Like Syndrome
|
|
Infantile Thoracic Dystrophy
|
Jeune Thoracic Dysplasia
|
|
Thoracic Asphyxiant Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Short-Rib Thoracic Dysplasia Without Polydactyly
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
|
Asphyxiating Thorax Dystrophy
|
|
|
| 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
|
|
|
| Visceral Heterotaxy |
|
Situs Ambiguus
|
Heterotaxia
|
|
Heterotaxy Syndrome
|
Heterotaxy
|
|
Lateralization Defect
|
Situs Ambiguous
|
|
Left Isomerism
|
Htx
|
|
Ivemark Syndrome
|
Right Isomerism
|
|
Situs Ambiguus Viscerum
|
Incomplete Situs Inversus
|
|
Partial Situs Inversus
|
Heterotaxy, Visceral
|
|
Asplenia Syndrome
|
Bilateral Left-Sidedness
|
|
Polysplenia Syndrome
|
Moller Syndrome
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| 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
|
|
|
