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16Q24.3 Microdeletion Syndrome
3-methylglutaconic aciduria type 7a
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Abderhalden-Kaufmann-Lignac Syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia microcephaly syndrome
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
Acromegaloid Facial Appearance Syndrome
acromelic frontonasal dysostosis
Acrorenal Mandibular Syndrome
Acute Retroviral Syndrome
Adducted Thumbs Syndrome +
adult respiratory distress syndrome
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
alacrima, achalasia, and impaired intellectual development syndrome
Albinism Deafness Syndrome
Alice in Wonderland Syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Aloi Tomasini Isaia Syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome +
alpha thalassemia-X-linked intellectual disability syndrome
Alves Castelo dos Santos Syndrome
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
Ameloonychohypohidrotic Syndrome
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 24
amyotrophic lateral sclerosis type 25
amyotrophic lateral sclerosis type 26
amyotrophic lateral sclerosis type 28
androgen insensitivity syndrome +
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankyrin-B-related cardiac arrhythmia
Annular Epidermolytic Ichthyosis +
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
anterior segment dysgenesis 1
anterior spinal artery syndrome
antiphospholipid syndrome +
antithrombin III deficiency
Antley-Bixler syndrome without disordered steroidogenesis
aplasia of lacrimal and salivary glands
apolipoprotein C-III deficiency +
APP-related cerebral amyloid angiopathy
apparent mineralocorticoid excess syndrome
Arnold Stickler Bourne Syndrome
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 14
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
Arroyo Garcia Cimadevilla Syndrome
arterial tortuosity syndrome
asphyxiating thoracic dystrophy +
Asrar Facharzt Haque Syndrome
Asymmetric Short Stature Syndrome
Ataxia-Microcephaly-Cataract Syndrome
atrial heart septal defect 2 +
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
Auriculocondylar Syndrome +
Ausems Wittebol-Post Hennekam Syndrome
autoimmune interstitial lung, joint, and kidney disease
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autoinflammation, antibody deficiency, and immune dysregulation syndrome
autosomal dominant Aarskog syndrome
autosomal dominant Alport syndrome
autosomal dominant beta thalassemia
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant craniodiaphyseal dysplasia
autosomal dominant craniometaphyseal dysplasia
autosomal dominant cutis laxa +
autosomal dominant distal hereditary motor neuronopathy +
Autosomal Dominant Dyskeratosis Congenita +
autosomal dominant dystrophic epidermolysis bullosa +
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant familial periodic fever
autosomal dominant familial visceral neuropathy
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant intellectual developmental disorder +
autosomal dominant isolated ectopia lentis 1
autosomal dominant isolated macrothrombocytopenia 1
autosomal dominant isolated macrothrombocytopenia 2
autosomal dominant keratitis +
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant microcephaly +
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant nonsyndromic deafness +
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant polycystic kidney disease +
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia 4
autosomal dominant spondyloepiphyseal dysplasia tarda
autosomal dominant thrombophilia due to protein S deficiency
autosomal dominant vitreoretinochoroidopathy
autosomal dominant Wolfram syndrome
autosomal dominant woolly hair
autosomal recessive cutis laxa type III +
Axenfeld-Rieger syndrome +
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Baraitser-Winter syndrome 1
Baraitser-Winter syndrome 2
Basel-Vanagaite-Smirin-Yosef syndrome
basilar artery insufficiency +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Behrens Baumann Dust Syndrome
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
benign familial hematuria +
benign familial infantile seizures 1
benign familial infantile seizures 2
benign familial infantile seizures 3
benign familial infantile seizures 5
benign familial infantile seizures 6
Bent Bone Dysplasia Syndrome +
bent bone dysplasia syndrome 1
Bernard-Soulier syndrome +
Bhaskar Jagannathan Syndrome
bilateral optic nerve hypoplasia
bilateral perisylvian polymicrogyria +
Birk-Landau-Perez Syndrome
blepharocheilodontic syndrome +
blepharophimosis-impaired intellectual development syndrome
Blue Rubber Bleb Nevus Syndrome
Bobble-Head Doll Syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnian type palmoplantar keratoderma
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
brachial plexus neuritis +
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
brachyolmia-amelogenesis imperfecta syndrome
brain small vessel disease 1
brain small vessel disease 2
Brain-Lung-Thyroid Syndrome
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
bullous congenital ichthyosiform erythroderma
Burnett Schwartz Berberian Syndrome
Buschke-Ollendorff syndrome
Camera Marugo Cohen Syndrome
Camptodactyly Syndrome Guadalajara Type +
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
capillary leak syndrome +
Cardiac-Urogenital Syndrome
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Cardiofacioneurodevelopmental Syndrome
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
Cartilage Hair Hypoplasia Like Syndrome
Cartwright Nelson Fryns Syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 5 multiple types
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract Microcornea Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cayler Cardiofacial Syndrome
central conducting lymphatic anomaly
central precocious puberty 1
central precocious puberty 2
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
cerebellofaciodental syndrome
cerebral creatine deficiency syndrome +
cerebrocostomandibular syndrome
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME
Cerebrooculonasal Syndrome
Chang Davidson Carlson Syndrome
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B +
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease dominant intermediate G
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1G
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2A
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2DD
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
Chemke Oliver Mallek Syndrome
childhood-onset neurodegeneration with brain atrophy
Chitayat Meunier Hodgkinson Syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Baraitser Syndrome
Chitty Hall Webb Syndrome
chondrodysplasia punctata +
chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
chromosomal deletion syndrome +
chromosomal duplication syndrome +
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36.33 duplication syndrome
CHROMOSOME 2p16.3 DELETION SYNDROME
Chromosome 4, 4q Terminal Deletion Syndrome
chromosome 5q12 deletion syndrome
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome Xp11.3 Deletion Syndrome
Chromosome Xq Duplication Syndrome
chronic atrial and intestinal dysrhythmia
Chudley-Mccullough syndrome
Chudley-Rozdilsky Syndrome
Circumvallate Placenta Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleft palate-lateral synechia syndrome
cleidocranial dysplasia +
Cleidorhizomelic Syndrome
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +
common variable immunodeficiency 10
common variable immunodeficiency 13
common variable immunodeficiency 14
common variable immunodeficiency 2
complex cortical dysplasia with other brain malformations +
complex regional pain syndrome +
congenital adrenal insufficiency
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Bone Marrow Failure Syndromes +
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital dyserythropoietic anemia type IV
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital muscular dystrophy due to LMNA mutation
congenital myasthenic syndrome 18
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 7
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 8
Congenital Pain Insensitivity +
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital symmetric circumferential skin creases 1
congenital symmetric circumferential skin creases 2
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Corneal Cerebellar Syndrome
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 6
Corneodermatoosseous Syndrome
Coronary-Subclavian Steal Syndrome
corpus callosum agenesis-abnormal genitalia syndrome
cortisone reductase deficiency 2
Cranioacrofacial Syndrome
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Cree Mental Retardation Syndrome
crescentic glomerulonephritis
Crigler-Najjar syndrome +
Crouzon syndrome-acanthosis nigricans syndrome
Cryopyrin-Associated Periodic Syndromes +
Cryptomicrotia Brachydactyly Syndrome
CST3-related cerebral amyloid angiopathy +
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutis Laxa-Marfanoid Syndrome
Cyclic Vomiting Syndrome +
Cyprus Facial Neuromusculoskeletal Syndrome
D-2-hydroxyglutaric aciduria 2
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Davenport Donlan Syndrome
De Hauwere Leroy Adriaenssens syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, with Smith-Magenis Syndrome
Deafness-Craniofacial Syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Deal Barratt Dillon Syndrome
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques
Dennis Fairhurst Moore Syndrome
dentinogenesis imperfecta +
Der Kaloustian Mcintosh Silver Syndrome
Dermal Ridges, Nelson Syndrome
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 103
developmental and epileptic encephalopathy 104
developmental and epileptic encephalopathy 108
developmental and epileptic encephalopathy 109
developmental and epileptic encephalopathy 11
developmental and epileptic encephalopathy 116
developmental and epileptic encephalopathy 13
developmental and epileptic encephalopathy 14
developmental and epileptic encephalopathy 17
developmental and epileptic encephalopathy 19
developmental and epileptic encephalopathy 24
developmental and epileptic encephalopathy 26
developmental and epileptic encephalopathy 27
developmental and epileptic encephalopathy 30
developmental and epileptic encephalopathy 31A
developmental and epileptic encephalopathy 32
developmental and epileptic encephalopathy 33
developmental and epileptic encephalopathy 4
developmental and epileptic encephalopathy 41
developmental and epileptic encephalopathy 42
developmental and epileptic encephalopathy 43
developmental and epileptic encephalopathy 45
developmental and epileptic encephalopathy 46
developmental and epileptic encephalopathy 47
developmental and epileptic encephalopathy 5
developmental and epileptic encephalopathy 54
developmental and epileptic encephalopathy 56
developmental and epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
developmental and epileptic encephalopathy 59
developmental and epileptic encephalopathy 62
developmental and epileptic encephalopathy 64
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 6B
developmental and epileptic encephalopathy 7
developmental and epileptic encephalopathy 70
developmental and epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
developmental and epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
developmental and epileptic encephalopathy 87
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy 92
developmental and epileptic encephalopathy 93
developmental and epileptic encephalopathy 96
developmental and epileptic encephalopathy 97
developmental and epileptic encephalopathy 98
developmental and epileptic encephalopathy 99
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
developmental dysplasia of the hip 1
developmental dysplasia of the hip 2
dialysis disequilibrium syndrome
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Dianzani Autoimmune Lymphoproliferative Syndrome
diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diarrhea prodrome + Hemolytic-Uremic Syndrome
diffuse cystic renal dysplasia
diffuse infiltrative lymphocytosis syndrome
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1II
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1LL
dilated cardiomyopathy 1MM
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dincsoy Salih Patel Syndrome
diphthamide deficiency syndrome 1
distal arthrogryposis type 10
distal arthrogryposis type 1A
distal arthrogryposis type 1B
distal arthrogryposis type 2A
distal arthrogryposis type 2B1
distal arthrogryposis type 2B2
distal arthrogryposis type 2B3
distal arthrogryposis type 3
distal arthrogryposis type 5
distal arthrogryposis type 7
distal myopathy Tateyama type
distal myopathy with rimmed vacuoles
Distal Trisomy 10q Syndrome
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Drachtman Weinblatt Sitarz Syndrome
Drug Hypersensitivity Syndrome
Duane retraction syndrome +
Duane-radial ray syndrome
Duker Weiss Siber syndrome
Dyggve-Melchior-Clausen disease +
Dykes Markes Harper Syndrome
dysplastic nevus syndrome
dystonia 28, childhood-onset
dystransthyretinemic hyperthyroxinemia
early-onset dystonia and/or spastic paraplegia
ectodermal dysplasia and immunodeficiency 2
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
Ehlers-Danlos syndrome arthrochalasia type 1
Ehlers-Danlos syndrome arthrochalasia type 2
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome periodontal type 1
Ehlers-Danlos syndrome periodontal type 2
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
encephalopathy due to defective mitochondrial and peroxisomal fission 1
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex generalized type +
epidermolysis bullosa simplex localized type +
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
epidermolysis bullosa simplex with muscular dystrophy
epidermolytic hyperkeratosis 1
epidermolytic palmoplantar keratoderma 1
epidermolytic palmoplantar keratoderma 2
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
episodic kinesigenic dyskinesia 3
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 6
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Failed Back Surgery Syndrome
familial adenomatous polyposis 1
familial adult myoclonic epilepsy 1
familial adult myoclonic epilepsy 2
familial adult myoclonic epilepsy 3
familial adult myoclonic epilepsy 4
familial adult myoclonic epilepsy 6
familial adult myoclonic epilepsy 7
Familial Antiphospholipid Syndrome
familial apolipoprotein A5 deficiency
familial Behcet-like autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial episodic pain syndrome 1
familial episodic pain syndrome 2
familial episodic pain syndrome 3
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
familial expansile osteolysis
familial focal epilepsy with variable foci +
familial gestational hyperthyroidism
Familial Hyperchylomicronemia Syndrome
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 3
familial hyperinsulinemic hypoglycemia 5
familial hyperinsulinemic hypoglycemia 6
familial hyperinsulinemic hypoglycemia 7
familial hypocalciuric hypercalcemia +
familial juvenile hyperuricemic nephropathy +
familial male-limited precocious puberty
familial medullary thyroid carcinoma
familial multiple lipomatosis
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
familial renal glucosuria
familial temporal lobe epilepsy 1
familial temporal lobe epilepsy 2
familial temporal lobe epilepsy 3
familial temporal lobe epilepsy 4
familial temporal lobe epilepsy 5
familial temporal lobe epilepsy 6
familial temporal lobe epilepsy 7
familial temporal lobe epilepsy 8
familial visceral amyloidosis +
Fanconi anemia complementation group R
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4
Fara Chlupackova Syndrome
Faye-Petersen Ward Carey Syndrome
Feingold Trainer Syndrome
Feline Acquired Immunodeficiency Syndrome
Female Athlete Triad Syndrome
Femur Fibula Ulna Syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
Fetal Inflammatory Response Syndrome
Fetal Trimethadione Syndrome
fibrodysplasia ossificans progressiva
fibrogenesis imperfecta ossium
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fitz-Hugh-Curtis Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
focal nonepidermolytic palmoplantar keratoderma 1
focal nonepidermolytic palmoplantar keratoderma 2
focal or diffuse nonepidermolytic palmoplantar keratoderma
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
Foix-Chavany-Marie Syndrome
Forney Robinson Pascoe Syndrome
Forsythe-Wakeling Syndrome
Fraser Jequier Chen Syndrome
Freeman-Sheldon syndrome +
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
frontometaphyseal dysplasia 2
Fryns Hofkens Fabry Syndrome
Fuchs' heterochromic uveitis
Furukawa Takagi Nakao Syndrome
GABRIELE-DE VRIES SYNDROME
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
Gamstorp-Wohlfart syndrome
Gardner Morrisson Abbot Syndrome
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Ghose Sachdev Kumar Syndrome
giant axonal neuropathy 2
Gilles de la Tourette syndrome +
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
glucose transporter type 1 deficiency syndrome +
glucose transporter type 1 deficiency syndrome 2
gnathodiaphyseal dysplasia
Goldberg-Shprintzen syndrome
Goldblatt Viljoen Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
granular corneal dystrophy +
Green Sandford Davison Syndrome
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal lobar degeneration with TDP43 inclusions
Groll Hirschowitz Syndrome
growth hormone insensitivity syndrome with immune dysregulation 2
Growth Hormone Insensitivity with Immune Dysregulation +
Grubben de Cock Borghgraef Syndrome
Guillain-Barre syndrome +
Gurrieri Sammito Bellussi Syndrome
Hagemoser Weinstein Bresnick Syndrome
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Hallermann-Streiff syndrome +
Hamanishi Ueba Tsuji Syndrome
Hamano Tsukamoto Syndrome
Hand-Arm Vibration Syndrome
hand-foot-genital syndrome
Hantavirus hemorrhagic fever with renal syndrome +
hantavirus pulmonary syndrome
Hapnes Boman Skeie Syndrome
Harrod Doman Keele Syndrome
Hashimoto-Pritzker Syndrome
Haspeslagh Fryns Muelenaere Syndrome
HEART AND BRAIN MALFORMATION SYNDROME
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
hemolytic-uremic syndrome +
Hemorrhagic Shock and Encephalopathy Syndrome
Hengel-Maroofian-Schols syndrome
heparin cofactor II deficiency
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome +
hereditary breast ovarian cancer syndrome
hereditary diffuse gastric cancer
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
hereditary fructose intolerance syndrome
hereditary hemorrhagic telangiectasia +
hereditary mixed polyposis syndrome 2
hereditary multiple exostoses +
Hereditary Neoplastic Syndromes +
hereditary neuropathy with liability to pressure palsies
hereditary sensory and autonomic neuropathy type 1A
hereditary sensory and autonomic neuropathy type 1C
hereditary sensory and autonomic neuropathy type 7
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
hereditary spastic paraplegia 10
hereditary spastic paraplegia 11
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 17
hereditary spastic paraplegia 19
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 33
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 6
hereditary spastic paraplegia 72A
hereditary spastic paraplegia 73
hereditary spastic paraplegia 79A
hereditary spastic paraplegia 8
hereditary spastic paraplegia 80
hereditary spastic paraplegia 88
hereditary spastic paraplegia 90A
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9A
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
Hernandez Aguirre-Negrete Syndrome
Hernandez Fragoso Syndrome
Hersh Podruch Weisskopf Syndrome
high myopia-sensorineural deafness syndrome
high pressure neurological syndrome
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
HIV-Associated Lipodystrophy Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Multiple Synostosis Syndrome
Hunter Carpenter Macdonald Syndrome
Hunter-Macdonald Syndrome
Huntington's Disease-Like Syndrome
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hypereosinophilic syndrome +
hyperferritinemia-cataract syndrome
Hyperimmunoglobulin G1(A1) Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia +
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with or without anosmia
hypogonadotropic hypogonadism 23 with or without anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia +
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukodystrophy 16
hypomyelinating leukodystrophy 19
hypomyelinating leukodystrophy 22
hypomyelinating leukodystrophy 24
hypomyelinating leukodystrophy 25
hypomyelinating leukodystrophy 6
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
hypoplastic left heart syndrome +
hypoplastic or aplastic tibia with polydactyly
Hypospadias-Mental Retardation Syndrome
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
hypotrichosis-lymphedema-telangiectasia syndrome +
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Prematurity Syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
idiopathic pulmonary fibrosis
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune Reconstitution Inflammatory Syndrome
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
inappropriate ADH syndrome +
inclusion body myopathy and brain white matter abnormalities
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
Incomplete Sertoli Cell-Only Syndrome
infancy electroclinical syndrome +
infantile liver failure syndrome +
infantile-onset distal myopathy
inflammatory bowel disease 21
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
intellectual developmental disorder with cardiac arrhythmia
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability and myopathy syndrome
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
intellectual disability-severe speech delay-mild dysmorphism syndrome
interstitial lung disease 1
interstitial lung disease 2
intracranial berry aneurysm 1
intracranial berry aneurysm 3
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
Iridocorneal Endothelial Syndrome +
iridogoniodysgenesis syndrome +
ischiocoxopodopatellar syndrome
Islet Cell Tumor Syndrome
Isodicentric Chromosome 15 Syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
isolated mitochondrial myopathy
Isotretinoin Embryopathy Like Syndrome
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jagell Holmgren Hofer Syndrome
Jansen's metaphyseal chondrodysplasia
Johanson-Blizzard syndrome
Johnston-Aarons-Schelley Syndrome
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous
Jung Wolff Back Stahl Syndrome
juvenile amyotrophic lateral sclerosis type 27
juvenile polyposis syndrome +
Kahn-Kahn-Katsanis Syndrome
Kaler Garrity Stern Syndrome
Kantaputra Gorlin Syndrome
Kaplan Plauchu Fitch Syndrome
Kaplowitz Bodurtha syndrome
Karandikar Maria Kamble Syndrome
Kasabach-Merritt Syndrome +
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kaufman oculocerebrofacial syndrome
Kennerknecht Sorgo Oberhoffer Syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
keratosis palmoplantaris striata 1
keratosis palmoplantaris striata 2
keratosis palmoplantaris striata 3
Kleeblattschaedel Syndrome
Klippel-Trenaunay syndrome
Kocher-Debre-Semelaigne Syndrome
Kohlschutter-Tonz syndrome
Konigsmark Knox Hussels Syndrome
Koone Rizzo Elias Syndrome
Kosaki Overgrowth Syndrome
Kousseff Nichols Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski Warren Fisher Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Kuster Majewski Hammerstein Syndrome
Kuzniecky Andermann Syndrome
Lachiewicz Sibley Syndrome
lacrimoauriculodentodigital syndrome 1
lacrimoauriculodentodigital syndrome 2
lacrimoauriculodentodigital syndrome 3
Laplane Fontaine Lagardere Syndrome
lateral medullary syndrome +
lateral meningocele syndrome
lattice corneal dystrophy +
Laurence Prosser Rocker Syndrome
Le Marec Bracq Picaud Syndrome
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leber congenital amaurosis with early-onset deafness
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
leucine-sensitive hypoglycemia of infancy
lissencephaly 9 with complex brainstem malformation
LONG-OLSEN-DISTELMAIER SYNDROME
loose anagen hair syndrome +
Lopes-Maciel-Rodan Syndrome
Lubani Al Saleh Teebi Syndrome
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
lymphedema-distichiasis syndrome +
Lynch Lee Murday syndrome
Maccario Mena Weir Syndrome
MacDermot Winter Syndrome
MacKay Shek Carr Syndrome
macrocephaly-autism syndrome
Macrophage Activation Syndrome
Malabsorption Syndromes +
Malignant Carcinoid Syndrome +
Mammary-Digital-Nail Syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Hypermobility Syndrome
Marinesco-Sjogren syndrome
Marles Greenberg Persaud Syndrome
Maroteaux Fonfria Syndrome
Martinez Monasterio Pinheiro Syndrome
Massa Casaer Ceulemans Syndrome
Maternally Inherited Leigh Syndrome
maturity-onset diabetes of the young +
Mayer-Rokitansky-Kuster-Hauser syndrome +
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
McPherson Robertson Cammarano Syndrome
Meacham Winn Culler Syndrome
Meckel-Like Cerebrorenodigital Syndrome
meconium aspiration syndrome
Medial Medullary Syndrome
Medial Tibial Stress Syndrome
median arcuate ligament syndrome
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephalic leukoencephalopathy with subcortical cysts 2B
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
Mehta Lewis Patton Syndrome
melanoma and neural system tumor syndrome
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal syndrome
Mengel Konigsmark Syndrome
Menke-Hennekam Syndrome +
Merlob Grunebaum Reisner Syndrome
Mesomelia-Synostoses Syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Methionine Malabsorption Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miles-Carpenter syndrome +
Miller-Dieker lissencephaly syndrome
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
mitochondrial DNA depletion syndrome 12a
mitochondrial DNA depletion syndrome 8A
Miura type epiphyseal chondrodysplasia
mixed connective tissue disease
Mollica-Pavone-Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
mosaic variegated aneuploidy syndrome +
Mousa Al din Al Nassar Syndrome
Mucopolysaccharidosis-Plus Syndrome
Mulchandani-Bhoj-Conlin syndrome
Muller Barth Menger Syndrome
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A +
multiple endocrine neoplasia type 2B +
multiple endocrine neoplasia type 4
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia with myopia and deafness
multiple mitochondrial dysfunctions syndrome +
multiple synostoses syndrome +
multiple system atrophy +
multiple types of congenital heart defects 6
Multisystemic Smooth Muscle Dysfunction Syndrome
Murine Acquired Immunodeficiency Syndrome
myelodysplastic syndrome +
myeloid leukemia associated with Down Syndrome
myoclonic-atonic epilepsy
Myoectodermal Gonadal Dysgenesis Syndrome
myofascial pain syndrome +
Myopathy, Cataract, Hypogonadism Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Naguib-Richieri-Costa Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
neonatal abstinence syndrome
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
nephrogenic diabetes insipidus type 2
nephrotic syndrome type 4
nerve compression syndrome +
Neuhauser Daly Magnelli Syndrome
Neuhauser Eichner Opitz Syndrome
Neurocutaneous Syndromes +
neurodegeneration with brain iron accumulation 3
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
neurodevelopmental disorder with hypotonia and speech delay
neurodevelopmental disorder with involuntary movements
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills
Neurofaciodigitorenal Syndrome
neurofibromatosis-Noonan syndrome
neurogenic scapuloperoneal syndrome Kaeser type
neurohypophyseal diabetes insipidus +
neuronal ceroid lipofuscinosis 4
neuronal intranuclear inclusion disease
neurooculocardiogenitourinary syndrome
Neutropenic Enterocolitis
nevoid basal cell carcinoma syndrome 1
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome +
Noble Bass Sherman Syndrome
Non Ketotic Hyperglycinemia Syndrome
nonautoimmune hyperthyroidism
Nonkeratan-Sulfate-Excreting Morquio Syndrome
nonsyndromic congenital nail disorder 1
nonsyndromic congenital nail disorder 2
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 5
nonsyndromic congenital nail disorder 6
nonsyndromic congenital nail disorder 7
nonsyndromic congenital nail disorder 8
Noonan syndrome with multiple lentigines +
O'Donnell-Luria-Rodan Syndrome
Obesity Hypoventilation Syndrome
oblique facial clefting 1
Occipital Cortical Malformations
ocular albinism with sensorineural deafness
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
oculocutaneous albinism +
Oculodental Syndrome Rutherfurd Syndrome
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 2
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 4
Oculorenocerebellar Syndrome
Odontoma Dysphagia Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Okur-Chung Neurodevelopmental Syndrome
Oligodontia-Colorectal Cancer Syndrome
Oliver-McFarlane syndrome
Opitz Reynolds Fitzgerald syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy Spastic Paraplegia Syndrome
ornithine translocase deficiency
orofaciodigital syndrome +
orofaciodigital syndrome X
Osebold Skeletal Dysplasia Osteolysis Syndrome
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
Osteootohepatoenteric Syndrome
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal dominant
ovarian hyperstimulation syndrome
overactive bladder syndrome
overhydrated hereditary stomatocytosis
Paget's disease of bone 2
Paget's disease of bone 3
Paget's disease of bone 4
Paget's disease of bone 6
Palant Cleft Palate Syndrome
Pallister Killian Syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
paramyotonia congenita of Von Eulenburg
Parana Hard Skin Syndrome
Paraneoplastic Syndromes +
PARKINSONISM WITH POLYNEUROPATHY
paroxysmal extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
Partial Duplication 15q Syndrome
partial fetal alcohol syndrome
Partial Trisomy 3q Syndrome
Partington Anderson Syndrome
Pascual Castroviejo Syndrome
patellofemoral pain syndrome
Patterson Pseudoleprechaunism Syndrome
Patterson Stevenson Syndrome
Pavone Fiumara Rizzo Syndrome
periodic limb movement disorder
permanent neonatal diabetes mellitus +
Perniola Krajewska Carnevale Syndrome
Peroxisome biogenesis disorder 4B
Perry syndrome A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO)
persistent fetal circulation syndrome
persistent Mullerian duct syndrome
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Rockelein Syndrome
Pfeiffer Tietze Welte Syndrome
Pheochromocytoma Islet Cell Tumor Syndrome
Piepkorn Karp Hickok syndrome
pigment dispersion syndrome
pigmented paravenous chorioretinal atrophy
Pilarowski-Bjornsson Syndrome
Pinheiro Freire-Maia Miranda Syndrome
Piriformis Muscle Syndrome +
Pituitary Stalk Interruption Syndrome
Piussan Lenaerts Mathieu syndrome
plasminogen deficiency type I
platelet-type bleeding disorder 12
platelet-type bleeding disorder 14
platelet-type bleeding disorder 15
platelet-type bleeding disorder 16
platelet-type bleeding disorder 17
platelet-type bleeding disorder 20
platelet-type bleeding disorder 3
platelet-type bleeding disorder 9
polycystic liver disease +
polycystic ovary syndrome +
Polydactyly Myopia Syndrome
Polyendocrine-Polyneuropathy Syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
Polyosteolysis-Hyperostosis Syndrome
poor metabolism of thiopurines 2
popliteal pterygium syndrome +
Porcine Postweaning Multisystemic Wasting Syndrome
Porcine Reproductive and Respiratory Syndrome
PORETTI-BOLTSHAUSER SYNDROME
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
postcholecystectomy syndrome
posterior amorphous corneal dystrophy
Posterior Leukoencephalopathy Syndrome
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
postgastrectomy syndrome +
Postpericardiotomy Syndrome
postpoliomyelitis syndrome
postural orthostatic tachycardia syndrome
Poult Enteritis Mortality Syndrome
Powell Chandra Saal Syndrome
Powell Venencie Gordon syndrome
Prata Libéral Gonçalves Syndrome
Pre-Excitation Syndromes +
preaxial polydactyly II +
preaxial polydactyly type IV
Preeyasombat Varavithya Syndrome
Presumed Ocular Histoplasmosis Syndrome
primary ciliary dyskinesia 43
primary failure of tooth eruption
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
primary ovarian insufficiency 11
primary ovarian insufficiency 16
primary ovarian insufficiency 3
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
primary pigmented nodular adrenocortical disease 1
primary pigmented nodular adrenocortical disease 2
primary pigmented nodular adrenocortical disease 4
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
progressive osseous heteroplasia
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Propofol Infusion Syndrome
proprotein convertase 1/3 deficiency
proteosome-associated autoinflammatory syndrome +
proteosome-associated autoinflammatory syndrome 2
prothrombin thrombophilia
Pseudo-Zellweger Syndrome
Pseudoaminopterin Syndrome
pulmonary venoocclusive disease 1
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
Rajab Interstitial Lung Disease with Brain Calcifications +
Ramos Arroyo Clark Syndrome
Rasmussen Johnsen Thomsen Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
Recombinant Chromosome 8 Syndrome
Reginato Schiapachasse Syndrome
Renal Dysplasia - Limb Defects Syndrome
renal hypomagnesemia 7, with or without dilated cardiomyopathy
Renal Nutcracker Syndrome
retinal arterial tortuosity
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
retinal macular dystrophy +
retinal vasculopathy with cerebral leukodystrophy
retinitis pigmentosa-deafness syndrome
Retinohepatoendocrinologic Syndrome
rhabdoid tumor predisposition syndrome +
Richieri Costa Da Silva Syndrome
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ridges-off-the-end Syndrome
Ring Chromosome 14 Syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 4 Syndrome
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rosenthal-Kloepfer Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson syndrome +
Rowley-Rosenberg Syndrome
Roy Maroteaux Kremp Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein Taybi like Syndrome
Rubinstein-Taybi syndrome +
Ruvalcaba Churesigaew Myhre Syndrome
Ruzicka Goerz Anton syndrome
Sackey Sakati Aur Syndrome
Saito Kuba Tsuruta Syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandestig-Stefanova syndrome
Sandhaus Ben-Ami Syndrome
Santos Mateus Leal Syndrome
Sao Paulo MCA/MR Syndrome
Say Field Coldwell Syndrome
Say-Barber-Miller Syndrome
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Schlegelberger Grote Syndrome
Schnyder corneal dystrophy
Schofer Beetz Bohl Syndrome
Schopf-Schulz-Passarge syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schuurs-Hoeijmakers syndrome
Schwartz Cohen-Addad Lambert Syndrome
Schwartz-Jampel syndrome 1
Schweitzer Kemink Graham Syndrome
Sd(a) POLYAGGLUTINATION SYNDROME
seasonal affective disorder
Second Metatarsal-Metacarpal Syndrome
secondary Parkinson disease +
Seizures, Cortical Blindness, and Microcephaly Syndrome
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
selective pituitary thyroid hormone resistance
Selig Benacerraf Greene Syndrome
Sensorineural Deafness and Migraine
sepiapterin reductase deficiency
Seres-Santamaria Arimany Muniz Syndrome
Sertoli cell-only syndrome +
Sessile Serrated Polyposis Cancer Syndrome
severe acute respiratory syndrome
Sharma Kapoor Ramji Syndrome
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature-Obesity Syndrome
shoulder impingement syndrome
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simian Acquired Immunodeficiency Syndrome
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
Singleton Merten Syndrome +
Sjogren-Larsson syndrome +
Sjogren-Larsson-like Syndrome
Sjögren-Mikulicz Syndrome
Skraban-Deardorff Syndrome
Slavotinek Pike Mills Hurst Syndrome
Smith-Lemli-Opitz syndrome +
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
Spastic Paraplegia and Evans Syndrome
spastic paraplegia with deafness
speech-language disorder-1
spinal muscular atrophy with lower extremity predominant +
spinal muscular atrophy, Jokela type
split hand-foot malformation 1
split hand-foot malformation 4
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Kimberley type
spondyloepiphyseal dysplasia Maroteaux type
spondyloepiphyseal dysplasia Nishimura type
spondyloepiphyseal dysplasia Stanescu type
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylometaphyseal dysplasia corner fracture type
spondylometaphyseal dysplasia Kozlowski type
spondyloperipheral dysplasia
Spranger Schinzel Myers Syndrome
Stankiewicz-Isidor Syndrome
Stern Lubinsky Durrie Syndrome
STING-associated vasculopathy with onset in infancy
Stocco Dos Santos type X-linked intellectual disability
Stoelinga-de Koomen-Davis Syndrome
Stolerman neurodevelopmental syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort Syndrome
Striatal Degeneration, Autosomal Dominant +
Structural Heart Defects and Renal Anomalies Syndrome
Stuve-Wiedemann Syndrome +
subclavian steal syndrome
sudden infant death syndrome +
Sudden Unexpected Nocturnal Death Syndrome
SULEIMAN-EL-HATTAB SYNDROME
superior mesenteric artery syndrome +
Superior Vena Cava Syndrome
supine hypotensive syndrome
Syndactyly-Polydactyly-Earlobe Syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Turner type
Systemic Inflammatory Response Syndrome +
Takenouchi-Kosaki Syndrome
TANGO2-related metabolic encephalopathy and arrythmias
tarsal-carpal coalition syndrome +
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome +
Teebi hypertelorism syndrome 1
Teebi Naguib Al Awadi syndrome
Tel Hashomer Camptodactyly Syndrome
Telfer Sugar Jaeger Syndrome
Temple-Baraitser syndrome
Temporomandibular Joint Dysfunction Syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
tethered spinal cord syndrome
Tetraphocomelia-Thrombocytopenia Syndrome
Thai Symphalangism Syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
thiamine-responsive megaloblastic anemia syndrome
Thiel-Behnke corneal dystrophy
Thomas Jewett Raines Syndrome
Thompson Baraitser Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thrombocytopenia Absent Ulnar Syndrome
thrombophilia due to activated protein C resistance
thrombophilia due to HRG deficiency
thrombophilia due to thrombin defect
Thyrocerebral-Retinal Syndrome
thyroid hormone resistance syndrome +
tibial muscular dystrophy
Tn polyagglutination syndrome
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
torsion dystonia with onset in infancy
Tranebjaerg Svejgaard syndrome
transthyretin amyloidosis
Treacher Collins syndrome +
Treft Sanborn Carey Syndrome
trichodontoosseous syndrome
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
Trueb Burg Bottani Syndrome
tubular aggregate myopathy 1
tubular aggregate myopathy 2
Tumor Predisposition Syndrome +
Tunglang Savage Bellman Syndrome
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
Ulna Metaphyseal Dysplasia Syndrome
Uncombable Hair Syndrome +
Urban Schosser Spohn Syndrome
Urioste Martinez-Frias Syndrome
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
variant ABeta2M amyloidosis
vascular type Ehlers-Danlos syndrome +
Vasquez Hurst Sotos Syndrome
Velofacioskeletal Syndrome
ventriculomegaly - cystic kidney disease
Verloes Gillerot Fryns Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency +
vertebral hypersegmentation and orofacial anomalies
Viljoen Kallis Voges Syndrome
Vogt-Koyanagi-Harada disease
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Walker-Warburg syndrome +
Warburton Anyane Yeboa Syndrome
Waterhouse-Friderichsen syndrome +
Weill-Marchesani syndrome +
Weinstein Kliman Scully Syndrome
Weissenbacher-Zweymuller syndrome +
Wellesley Carmen French Syndrome
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
Whyte Murphy Fallon Sly syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Woodhouse-Sakati syndrome
Woods Black Norbury Syndrome
Woods Leversha Rogers Syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked parkinsonism-spasticity syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
Yemenite Deaf-Blind Hypopigmentation Syndrome
Yoon-Bellen neurodevelopmental syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zika virus congenital syndrome
Zimmerman Laband Syndrome +
Zori Stalker Williams Syndrome
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