Klinische FragestellungKrankheiten im Kindesalter, genetisch bedingt; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein Exom panel mit Leitlinien-kuratierten und weit mehr mehr als 1000 Genen zur umfassenden Untersuchung von praktisch allen nicht ganz seltenen, genetisch bedingten pädiatrischen Erkrankungen gemäß den angegeben HPO-Terms

KP5858

Anzahl Gene

2 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1.000,0 kb (Core-/Core-canditate-Gene)
1.002,6 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
TecExom	999999	Keine OMIM-Gs verknüpft		n.k.
UBE3A	2559	601623	NM_130838.4	AD

Infos zur Erkrankung

Synonyme

Alias: Pediatric diseases, genetic
Alias: Pädiatrische Erkrankungen, erblich
17,20-lyase deficiency, isolated, 202110
17-alpha-hydroxylase/17,20-lyase deficiency, 202110
2-aminoadipic 2-oxoadipic aciduria, 204750
2-methylbutyrylglycinuria, 610006
3-M syndrome 1, 273750
3-M syndrome 2
3-M syndrome 3, 614205
3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200
3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210
3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
3-methylglutaconic aciduria, deafness, encephalopathy, Leigh-like syndrome
3-methylglutaconic aciduria, type I, 250950
3-methylglutaconic aciduria, type III, 258501
3-methylglutaconic aciduria, type IX, 617698
3-methylglutaconic aciduria, type V, 610198
3-methylglutaconic aciduria, type VII, cataracts, neurol. signs, neutropenia
3-methylglutaconic aciduria, type VIII, 617248
3MC syndrome 1, 257920
3MC syndrome 2, 265050
3MC syndrome 3, 248340
46, XX sex reversal 4, 617480
46XX sex reversal 1, 400045;46XY sex reversal 1, 400044
46XY sex reversal 2, dosage-sensitive, 30001
46XY sex reversal 3, 612965
46XY sex reversal 6, 613762
5-fluorouracil toxicity, 274270
ABCD syndrome, 600501
ACTH-independent macronodular adrenal hyperplasia, 219080
ADULT syndrome, 103285
AICA-ribosiduria due to ATIC deficiency, 608688
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, HEARING LOSS
Aarskog-Scott syndrome, 305400
Abetalipoproteinemia, 200100
Ablepharon-macrostomia syndrome
Abnormality of movement
Abnormality of nervous system morphology
Abnormality of the foot
Abnormality of the hand
Abruzzo-Erickson syndrome, 302905
Acampomelic campomelic dysplasia, 114290
Acatalasemia, 614097
Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
Acheiropody, 200500
Achondrogenesis Ib, 600972
Achondrogenesis, type IA, 200600
Achondrogenesis, type II or hypochondrogenesis, 200610
Achondroplasia, 100800
Achromatopsia 3, 262300
Acid-labile subunit, deficiency of, 615961
Acne inversa, familial, 3, 61373
Acrocallosal syndrome, 200990
Acrocapitofemoral dysplasia, 607778
Acrodermatitis enteropathica, 201100
Acrodysostosis 1, with or without hormone resistance, 101800
Acrodysostosis 2, with or without hormone resistance
Acrofacial dysostosis 1, Nager type, 154400
Acrofacial dysostosis, Cincinnati type, 616462
Acromelic frontonasal dysostosis, 603671;
Acromesomelic dysplasia, Demirhan type, 609441
Acromesomelic dysplasia, Hunter-Thompson type, 201250
Acromesomelic dysplasia, Maroteaux type, 602875
Acromicric dysplasia, 102370
Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470
Adams-Oliver syndrome 1, 100300
Adams-Oliver syndrome 2, 614219
Adams-Oliver syndrome 3, 614814
Adams-Oliver syndrome 4, 615297
Adams-Oliver syndrome 5, 616028
Adams-Oliver syndrome 6, 616589
Adenine phosphoribosyltransferase deficiency, 614723
Adenomatous polyposis coli, 175100
Adenosine deaminase deficiency, partial, 102700
Adenosine triphosphate, elevated, of erythrocytes, 102900
Adenylosuccinase deficiency, 103050
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
Adrenal hypoplasia, congenital, 300200
Adrenal insufficiency, congenital, with 46XY sex reversal, partial/complete
Adrenal tubular dysgenesis, 267430
Adrenocortical insufficiency, 612964
Adrenoleukodystrophy, 300100
Adrenomyeloneuropathy, adult, 300100
Afibrinogenemia, congenital, 202400
Agammaglobulinemia 1, 601495
Agammaglobulinemia 2, 613500
Agammaglobulinemia 3, 613501
Agammaglobulinemia 6, 612692
Agammaglobulinemia 7, autosomal recessive, 615214
Agammaglobulinemia 8, autosomal dominant, 616941
Agammaglobulinemia, X-linked 1, 300755
Agenesis of the corpus callosum with peripheral neuropathy, 218000
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Aicardi-Goutieres syndrome 2, 610181
Aicardi-Goutieres syndrome 3, 610329
Aicardi-Goutieres syndrome 4, 610333
Aicardi-Goutieres syndrome 5, 612952;?Chilblain lupus 2, 614415
Aicardi-Goutieres syndrome 6, 615010
Aicardi-Goutieres syndrome 7, 615846
Al Kaissi syndrome, 617694
Al-Gazali-Bakalinova syndrome, 607131
Al-Raqad syndrome, 616459
Alacrima, achalasia, and mental retardation syndrome, 615510
Alagille syndrome 1, 118450
Alagille syndrome 2, 610205
Aland Island eye disease, 300600
Alazami syndrome, 615071
Alazami-Yuan syndrome, 617126
Albinism, brown oculocutaneous, 203200
Albinism, oculocutaneous, type IA, 203100
Albinism, oculocutaneous, type IB, 606952
Albinism, oculocutaneous, type II, 203200
Albinism, oculocutaneous, type III, 203290
Albinism, oculocutaneous, type IV, 606574
Aldosteronism, glucocorticoid-remediable, 103900
Alexander disease, 203450
Alkaptonuria, 203500
Alkuraya-Kucinskas syndrome, 617822
Allan-Herndon-Dudley syndrome, 300523
Alopecia
Alopecia universalis, 203655
Alpha-2-plasmin inhibitor deficiency, 262850
Alpha-methylacetoacetic aciduria, 203750
Alpha-methylacyl-CoA racemase deficiency, 614307
Alpha-thalassemia/mental retardation syndrome, 301040
Alport syndrome 1, X-linked, 301050
Alport syndrome 2, autosomal recessive, 203780
Alport syndrome 3, autosomal dominant, 104200
Alstrom syndrome, 203800
Alternating hemiplegia of childhood 1, 104290
Alternating hemiplegia of childhood 2, 614820
Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
Alzheimer disease, type 3, 607822
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Amelogenesis imperfecta, type 1E, 301200
Amelogenesis imperfecta, type IA, 104530
Amelogenesis imperfecta, type IG, enamel-renal syndrome, 204690
Amelogenesis imperfecta, type IIA4, 614832
Amelogenesis imperfecta, type IV, 104510
Aminoacylase 1 deficiency, 609924
Amyloidosis, 3 or more types, 105200
Amyloidosis, familial visceral, 105200
Amyloidosis, familial visceral;Immunodeficiency 43, 241600
Amyloidosis, hereditary, transthyretin-related, 105210
Amyloidosis, primary localized cutaneous, 1, 105250
Amyotrophic lateral sclerosis 10, with or without FTD, 612069
Amyotrophic lateral sclerosis 11, 612577
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
Amyotrophic lateral sclerosis 17, 614696
Amyotrophic lateral sclerosis 2, juvenile, 205100
Amyotrophic lateral sclerosis 21, 606070
Amyotrophic lateral sclerosis 4, juvenile, 602433
Amyotrophic lateral sclerosis 5, juvenile, 602099
Amyotrophic lateral sclerosis, susceptibility to, 13
Amyotrophy, hereditary neuralgic, 162100
Analbuminemia, OMIM:616000
Anauxetic dysplasia 1, 607095
Anauxetic dysplasia 2, 617396
Andersen syndrome, OMIM:170390
Andersen-Tawil syndrome, MONDO:0008222
Androgen insensitivity, OMIM:300068
Androgen insensitivity, partial, with or without breast cancer
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Anemia, hemolytic, Rh-null, regulator type, 268150
Anemia, hemolytic, due to UMPH1 deficiency, 266120
Anemia, hypochromic microcytic, with iron overload 1, 206100
Anemia, neonatal hemolytic, fatal or near-fatal, 617948
Anemia, sideroblastic, 1, 300751
Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Anemia, sideroblastic, 3, pyridoxine-refractory, 616860
Anemia, sideroblastic, with ataxia, 301310
Angelman syndrome, 105830
Angioedema, hereditary, type 3, OMIM:610618
Angioedema, hereditary, types I + II, 106100
Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps
Aniridia, 106210
Anonychia congenita, 206800
Anorectal malformation
Anterior segment anomalies with or without cataract, 602588
Anterior segment dysgenesis 1, multiple subtypes
Anterior segment dysgenesis 2, multiple subtypes, 610256
Anterior segment dysgenesis 3, multiple subtypes, 601631
Anterior segment dysgenesis 4, 137600Ring dermoid of cornea, 180550
Anterior segment dysgenesis 5, multiple subtypes, 604229
Anterior segment dysgenesis 6, multiple subtypes, 617315
Antley-Bixler syndrome with genital anomalies, disordered steroidogenesis
Antley-Bixler syndrome without genital anomalies/disordered steroidogenesis
Aortic aneurysm, familial thoracic 6, 611788
Aortic valve disease 1, 109730
Apert syndrome, 101200
Aphasia, primary progressive, 607485
Aplasia of lacrimal and salivary glands, 180920
Aplastic anemia, 609135
ApoA-I + apoC-III deficiency, combined, 618463
Aqueductal stenosis
Argininemia, 207800
Argininosuccinic aciduria, 207900
Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
Arrhythmogenic right ventricular dysplasia 1, 107970
Arrhythmogenic right ventricular dysplasia 12, 611528
Arrhythmogenic right ventricular dysplasia 2, 600996
Arrhythmogenic right ventricular dysplasia 5, 604400
Arrhythmogenic right ventricular dysplasia 8, 607450
Arterial calcification, generalized, of infancy, 1, 208000
Arterial calcification, generalized, of infancy, 2, 614473
Arterial tortuosity syndrome, 208050
Arthrogryposis multiplex congenita 5, OMIM:618947
Arthrogryposis multiplex congenita, myogenic type, 618484
Arthrogryposis multiplex congenita, neurogenic, with myelin defect
Arthrogryposis, cleft palate, craniosynostosis, impaired intellectual development
Arthrogryposis, distal, type 1A, 108120
Arthrogryposis, distal, type 1B, 614335
Arthrogryposis, distal, type 2A, Freeman-Sheldon, 193700
Arthrogryposis, distal, type 2B1, 601680
Arthrogryposis, distal, type 2B2, MONDO:0032750
Arthrogryposis, distal, type 2B2, OMIM:618435
Arthrogryposis, distal, type 2B3, Sheldon-Hall, 618436
Arthrogryposis, distal, type 2B4, 108120
Arthrogryposis, distal, type 3, 114300
Arthrogryposis, distal, type 5, 108145
Arthrogryposis, distal, type 5D, 615065
Arthrogryposis, distal, with impaired proprioception and touch
Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Arthropathy, progressive pseudorheumatoid, of childhood, 208230
Asparagine synthetase deficiency, 615574
Aspartylglucosaminuria, 208400
Asperger syndrome susceptibility, X-linked 1, 300494
Asplenia, isolated congenital, 271400
Ataxia with isolated vitamin E deficiency, 277460
Ataxia, cerebellar, Cayman type, 601238
Ataxia, early-onset, with oculomotor apraxia, hypoalbuminemia
Ataxia, posterior column, with retinitis pigmentosa, 609033
Ataxia, sensory, 1, autosomal dominant, 608984
Ataxia-oculomotor apraxia 4
Ataxia-pancytopenia syndrome, 159550
Ataxia-telangiectasia, 208900
Ataxia-telangiectasia-like disorder 1, 604391
Atelosteogenesis, type I, 108720
Atelosteogenesis, type II, 256050
Atelosteogenesis, type III, 108721
Athabaskan brainstem dysgenesis syndrome, 601536
Atransferrinemia, 209300
Atrial fibrillation, familial, 12, 614050
Atrial fibrillation, familial, 13, 615377
Atrial fibrillation, familial, 3, 607554
Atrial fibrillation, familial, 9, OMIM:613980
Atrial septal defect 2, 607941
Atrial septal defect 3, 614089
Atrial septal defect 4, 611363
Atrial septal defect 5, 612794
Atrial septal defect 7, with or without AV conduction defects, 108900
Atrial septal defect 9, 614475
Atrichia with papular lesions, 209500
Atrioventricular septal defect 3, 600309
Atrioventricular septal defect 4, 614430
Atrioventricular septal defect 5, 614474
Au-Kline syndrome, 616580
Auditory neuropathy and optic atrophy, 617717
Auditory neuropathy, autosomal recessive, 1, 601071
Auriculocondylar syndrome 1, 602483
Autism susceptibility 15, 612100
Autism susceptibility 17, 613436
Autism susceptibility, X-linked 1, 300425
Autistic behavior
Autoimmune disease, multisystem, facial dysmorphism, 613385
Autoimmune disease, multisystem, infantile-onset, 1, 615952
Autoimmune disease, multisystem, infantile-onset, 2, 617006
Autoimmune interstitial lung, joint, and kidney disease, 616414
Autoimmune lymphoproliferative syndrome, type IA, 601859
Autoimmune lymphoproliferative syndrome, type IB, 601859
Autoimmune lymphoproliferative syndrome, type II, 603909
Autoimmune lymphoproliferative syndrome, type III, 615559
Autoimmune lymphoproliferative syndrome, type V, 616100
Autoimmune polyendocrinopathy syndrome I, +/- reversible metaphyseal dysplasia
Autoinflammation with infantile enterocolitis, OMIM:616050
Autoinflammation, antibody deficiency, immune dysregulation syndrome
Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744
Autoinflammatory-pancytopenia syndrome, OMIM:619858
Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768
Avascular necrosis of femoral head, primary, 2, 617383
Avascular necrosis of the femoral head, 608805
Axenfeld-Rieger syndrome, type 1, 180500
Axenfeld-Rieger syndrome, type 3, 602482
Ayme-Gripp syndrome, 601088
B-cell expansion with NFKB and T-cell anergy, 616452
BILATERAL STRIATAL NECROSIS
BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY
Bainbridge-Ropers syndrome, 615485
Baker-Gordon syndrome, 618218
Baller-Gerold syndrome, 218600
Bamforth-Lazarus syndrome, 241850
Band heterotopia, 600348
Baraitser-Winter syndrome 1, 243310
Baraitser-Winter syndrome 2, 614583
Bardet-Biedl syndrome 1, 209900
Bardet-Biedl syndrome 10, 615987
Bardet-Biedl syndrome 11, 615988
Bardet-Biedl syndrome 12, 615989
Bardet-Biedl syndrome 13, 615990
Bardet-Biedl syndrome 14, 615991
Bardet-Biedl syndrome 17, 615994
Bardet-Biedl syndrome 2, 615981
Bardet-Biedl syndrome 21, 617406
Bardet-Biedl syndrome 3, 600151
Bardet-Biedl syndrome 4, 615982
Bardet-Biedl syndrome 5, 615983
Bardet-Biedl syndrome 6, 605231
Bardet-Biedl syndrome 7, 615984
Bardet-Biedl syndrome 8, 615985
Bardet-Biedl syndrome 9, 615986
Bare lymphocyte syndrome, type I, 604571
Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571
Bare lymphocyte syndrome, type II, complementation group A, 209920
Bare lymphocyte syndrome, type II, complementation group C, 209920
Bare lymphocyte syndrome, type II, complementation group D, 209920
Bare lymphocyte syndrome, type II, complementation group E, 209920
Barrett esophagus/esophageal adenocarcinoma, 614266
Bart-Pumphrey syndrome, 149200
Barth syndrome, 302060
Bartter syndrome, type 1, 601678
Bartter syndrome, type 2, 241200
Bartter syndrome, type 4a, 602522
Basal cell nevus syndrome, 109400
Basal ganglia calcification, idiopathic, 1, 213600
Basal ganglia calcification, idiopathic, 4, 615007
Basal ganglia calcification, idiopathic, 5, 615483
Basal ganglia calcification, idiopathic, 6, 616413
Basal laminar drusen, 126700
Beare-Stevenson cutis gyrata syndrome, 123790
Beaulieu-Boycott-Innes syndrome, 613680
Becker muscular dystrophy, 300376
Beckwith-Wiedemann syndrome, 130650
Behr syndrome, 210000
Bent bone dysplasia syndrome, 614592
Bernard-Soulier syndrome, type A1, recessive, 231200
Bernard-Soulier syndrome, type A2, dominant, 153670
Bernard-Soulier syndrome, type B, 231200
Bernard-Soulier syndrome, type C, 231200
Bethlem myopathy 1, 158810
Bethlem myopathy 2, 616471
Bifid nose with or without anorectal and renal anomalies, 608980
Bilateral ventriculomegaly
Bile acid synthesis defect, congenital, 1, 607765
Bile acid synthesis defect, congenital, 2, 235555
Bile acid synthesis defect, congenital, 3, 613812
Bile acid synthesis defect, congenital, 4, 214950
Biotinidase deficiency, 253260
Birk-Barel mental retardation dysmorphism syndrome, 612292
Birt-Hogg-Dube syndrome, 135150
Bjornstad syndrome, 262000
Blau syndrome, OMIM:186580
Bleeding disorder, platelet-type, 11, 614201
Bleeding disorder, platelet-type, 13, susceptibility to}, 614009
Bleeding disorder, platelet-type, 15, 615193
Bleeding disorder, platelet-type, 16, autosomal dominant
Bleeding disorder, platelet-type, 17, 187900
Bleeding disorder, platelet-type, 18, 615888
Bleeding disorder, platelet-type, 20, 616913
Bleeding disorder, platelet-type, 21, 617443
Bleeding disorder, platelet-type, 8, 609821
Blepharocheilodontic syndrome 1, 119580
Blepharocheilodontic syndrome 2, 617681
Blood group--Lutheran inhibitor, 111150
Bloom syndrome, 210900
Bohring-Opitz syndrome, 605039
Bone marrow failure syndrome 2, 615715
Bone marrow failure syndrome 3, 617052
Bone marrow failure syndrome 4, 618116
Bone marrow failure syndrome 5, 618165
Bone mineral density QTL18, osteoporosis, 300910
Boomerang dysplasia, 112310
Borjeson-Forssman-Lehmann syndrome, 301900
Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722
Bosley-Salih-Alorainy syndrome, 601536
Bosma arhinia microphthalmia syndrome, 603457
Boucher-Neuhauser syndrome, 215470
Brachydactyly, type A1, 112500
Brachydactyly, type A1, C, 615072
Brachydactyly, type A1, D, 616849
Brachydactyly, type A2, 112600
Brachydactyly, type B1, 113000
Brachydactyly, type B2, 611377
Brachydactyly, type C, 113100
Brachydactyly, type D, 113200
Brachydactyly, type E, 113300
Brachydactyly, type E2, 613382
Brachydactyly-mental retardation syndrome, 600430
Brachydactyly-syndactyly syndrome, 610713
Brachyolmia type 3, 113500
Brachyolmia type 4 with mild epiphyseal and metaphyseal changes, 612847
Brain abnormalities, neurodegeneration, dysosteosclerosis, 618476
Brain malformations with or without urinary tract defects, 613735
Brain small vessel disease 2, 614483
Brain small vessel disease with or without ocular anomalies, 175780
Brain tumor-polyposis syndrome 2, 175100
Branched-chain ketoacid dehydrogenase kinase deficiency, 614923
Branchiooculofacial syndrome, 113620
Branchiootic syndrome 1, 602588
Branchiootic syndrome 3, 608389
Branchiootorenal syndrome 1, with or without cataracts, 113650
Branchiootorenal syndrome 2, 610896
Brittle cornea syndrome 1, 229200
Brody myopathy, 601003
Bronchiectasis with or without elevated sweat chloride 1, 211400
Bronchiectasis with or without elevated sweat chloride 2, 613021
Brown-Vialetto-Van Laere syndrome 1, 211530
Brown-Vialetto-Van Laere syndrome 2, 614707
Bruck syndrome 1, 259450
Bruck syndrome 2, 609220
Brugada syndrome 3, 611875
Brugada syndrome 5, 612838
Brugada syndrome 9, 616399
Brunner syndrome, 300615
Burn-McKeown syndrome, 608572
Buschke-Ollendorff syndrome, 166700
C1q deficiency, 613652
C1s deficiency, 613783
C2 deficiency, 217000
C3 deficiency, 613779
C4B deficiency, 614379
C4a deficiency, 614380
C5 deficiency, 609536
C6 deficiency, 612446
C7 deficiency, 610102
C8 deficiency, type I, 613790
C8 deficiency, type II, 613789
C9 deficiency, 613825
CAKUT
CAP myopathy 1, 609284
CAP myopathy 2, 609285
CAPOS syndrome, 601338
CARASIL syndrome, 600142
CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, MITOCHONDRIAL
CARDIOMYOPATHY, RESTRICTIVE
CATSHL syndrome, 610474
CD8 deficiency, familial, 608957
CHAND syndrome, 214350
CHARGE syndrome, 214800
CHILD syndrome, 308050
CHIME syndrome, 280000
CHOPS syndrome, 616368
CINCA syndrome, OMIM:607115
CK syndrome, 300831
CNOT3 syndrome
COACH syndrome, 216360
CODAS syndrome, 600373
COMMAD syndrome, 617306
CPT II deficiency, infantile, 600649
CPT II deficiency, lethal neonatal, 608836
CPT II deficiency, myopathic, stress-induced, 255110
CPT deficiency, hepatic, type IA, 255120
CRASH syndrome, 303350
CYTOCHROME c OXIDASE DEFICIENCY
CYTOCHROME c OXIDASE I DEFICIENCY
Caffey disease, 114000
Campomelic dysplasia with autosomal sex reversal, 114290
Campomelic dysplasia, 114290
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250
Camurati-Engelmann disease, 131300
Canavan disease, 271900
Candidiasis, familial, 2, autosomal recessive, 212050
Candidiasis, familial, 9, 616445
Capillary malformation-arteriovenous malformation 1, 608354
Capillary malformation-arteriovenous malformation 2, 618196
Carbamoylphosphate synthetase I deficiency, 237300
Cardiac conduction defect, nonspecific, 612838
Cardiac malformation, cleft lip/palate, microcephaly, digital anomalies
Cardiac valvular dysplasia, X-linked, 314400
Cardiac, facial, and digital anomalies with developmental delay, 618164
Cardiac-urogenital syndrome, 618280
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Cardiofaciocutaneous syndrome 3, 615279
Cardiofaciocutaneous syndrome 4, 615280
Cardiofaciocutaneous syndrome, 115150
Cardiomyopathy, apical hypertrophic + neuropathy
Cardiomyopathy, dilated, 1A, 115200
Cardiomyopathy, dilated, 1C, with or without LVNC, 601493
Cardiomyopathy, dilated, 1EE, 613252
Cardiomyopathy, dilated, 1G, 604145
Cardiomyopathy, dilated, 1GG, 613642
Cardiomyopathy, dilated, 1HH, 613881
Cardiomyopathy, dilated, 1I, 604765
Cardiomyopathy, dilated, 1II, 615184
Cardiomyopathy, dilated, 1J, 605362
Cardiomyopathy, dilated, 1L, 606685
Cardiomyopathy, dilated, 1NN, 615916
Cardiomyopathy, dilated, 1O, 608569
Cardiomyopathy, dilated, 1R, 613424
Cardiomyopathy, dilated, 1S, 613426
Cardiomyopathy, dilated, 1U, 613694
Cardiomyopathy, dilated, 1X, 611615
Cardiomyopathy, dilated, 3B, 302045
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676
Cardiomyopathy, familial hypertrophic, 192600
Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
Cardiomyopathy, familial hypertrophic, 9, 613765
Cardiomyopathy, familial restrictive 5, OMIM:617047
Cardiomyopathy, fatal
Cardiomyopathy, fatal infantile
Cardiomyopathy, hypertrophic, 1, 192600
Cardiomyopathy, hypertrophic, 11, 612098
Cardiomyopathy, hypertrophic, 14, 613251
Cardiomyopathy, hypertrophic, 17, 613873
Cardiomyopathy, hypertrophic, 24, 601493
Cardiomyopathy, hypertrophic, 25, 607487
Cardiomyopathy, hypertrophic, 6, 600858
Cardiospondylocarpofacial syndrome, 157800
Carey-Fineman-Ziter syndrome, OMIM:254940
Carney complex variant, 608837
Carney complex, type 1, 160980
Carnitine deficiency, systemic primary, 212140
Carnitine-acylcarnitine translocase deficiency, 212138
Carpal tunnel syndrome, familial, 115430
Carpenter syndrome 2, 614976
Carpenter syndrome, 201000
Cartilage-hair hypoplasia, 250250
Cataract 1, multiple types, 116200
Cataract 10, multiple types, 600881
Cataract 11, multiple types, 610623
Cataract 11, syndromic, autosomal recessive, 610623
Cataract 12, multiple types, 611597
Cataract 14, multiple types, 601885
Cataract 16, multiple types, 613763
Cataract 17, multiple types, 611544
Cataract 18, autosomal recessive, 610019
Cataract 2, multiple types, 604307
Cataract 21, multiple types, 610202
Cataract 22, 609741
Cataract 23, 610425
Cataract 3, multiple types, 601547
Cataract 34, multiple types, 612968
Cataract 38, autosomal recessive, 614691
Cataract 4, multiple types, 115700
Cataract 40, X-linked, 302200
Cataract 41, 116400
Cataract 5, multiple types, 116800
Cataract 9, multiple types, 604219
Cataract with late-onset corneal dystrophy, 106210
Cataracts, GH def., sensory neurop., hearing loss, skeletal dysplasia
Catel-Manzke syndrome, 616145
Cavernous malformations of CNS and retina, 116860
Cenani-Lenz syndactyly syndrome, 212780
Central core disease, 117000
Central hypoventilation syndrome, congenital, 209880
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease
Centronuclear myopathy 1, 160150
Centronuclear myopathy 2, 255200
Centronuclear myopathy 5, 615959
Centronuclear myopathy 6 with fiber-type disproportion
Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Cerebellar ataxia and mental retardation +/- quadrupedal locomotion 3
Cerebellar ataxia, 604290
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Cerebellar ataxia, nonprogressive, with mental retardation, 614756
Cerebellar ataxia,cataract, diabetes mellitus
Cerebellar atrophy, developmental delay, and seizures
Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875
Cerebellar hypoplasia and mental retardation +/-quadrupedal locomotion 1
Cerebellar, ocular, craniofacial, and genital syndrome, 618479
Cerebellofaciodental syndrome, 616202
Cerebral amyloid angiopathy, PRNP-related, 137440
Cerebral arteriopathy with subcortical infarcts, leukoencephalopathy 1
Cerebral arteriopathy, AD, subcortical infarcts. leukoencephalopathy, type 2
Cerebral cavernous malformations-1, 116860
Cerebral cavernous malformations-3, 603285
Cerebral creatine deficiency syndrome 1, 300352
Cerebral creatine deficiency syndrome 2, 612736
Cerebral creatine deficiency syndrome 3, 612718
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
Cerebral palsy, spastic quadriplegic, 3, 617008
Cerebrocostomandibular syndrome, 117650
Cerebrooculofacioskeletal syndrome 1, 214150
Cerebrooculofacioskeletal syndrome 2, 610756
Cerebrooculofacioskeletal syndrome 3, 616570
Cerebrooculofacioskeletal syndrome 4, 610758
Cerebroretinal microangiopathy with calcifications and cysts, 612199
Cerebrotendinous xanthomatosis, 213700
Ceroid lipofuscinosis, neuronal, 1, 256730
Ceroid lipofuscinosis, neuronal, 10, 610127
Ceroid lipofuscinosis, neuronal, 11, 614706
Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Ceroid lipofuscinosis, neuronal, 2, 204500
Ceroid lipofuscinosis, neuronal, 3, 204200
Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
Ceroid lipofuscinosis, neuronal, 6, 601780
Ceroid lipofuscinosis, neuronal, 7, 610951
Ceroid lipofuscinosis, neuronal, 8, 600143
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Chanarin-Dorfman syndrome, 275630
Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070
Charcot-Marie-Tooth disease, axonal type 2M, 606482
Charcot-Marie-Tooth disease, axonal, type 20, 614228
Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087
Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Charcot-Marie-Tooth disease, axonal, type 2EE, 618400
Charcot-Marie-Tooth disease, axonal, type 2F, 606595
Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831
Charcot-Marie-Tooth disease, axonal, type 2L, 608673
Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
Charcot-Marie-Tooth disease, axonal, type 2P, 614436
Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
Charcot-Marie-Tooth disease, axonal, type 2S, 616155
Charcot-Marie-Tooth disease, axonal, type 2V, 616491
Charcot-Marie-Tooth disease, axonal, type 2X, 616668
Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706
Charcot-Marie-Tooth disease, dominant intermediate, B, 606482
Charcot-Marie-Tooth disease, dominant intermediate, D, 607791
Charcot-Marie-Tooth disease, dominant intermediate, E, 614455
Charcot-Marie-Tooth disease, dominant intermediate, G, 617882
Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340
Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Charcot-Marie-Tooth disease, recessive intermediate, D, 616039
Charcot-Marie-Tooth disease, type 1A, 118220
Charcot-Marie-Tooth disease, type 1B, 118200
Charcot-Marie-Tooth disease, type 1C, 601098
Charcot-Marie-Tooth disease, type 1D, 607678
Charcot-Marie-Tooth disease, type 1E, 118300
Charcot-Marie-Tooth disease, type 1F, 607734
Charcot-Marie-Tooth disease, type 2B, 600882
Charcot-Marie-Tooth disease, type 2B1, 605588
Charcot-Marie-Tooth disease, type 2D, 601472
Charcot-Marie-Tooth disease, type 2E, 607684
Charcot-Marie-Tooth disease, type 2I, 607677
Charcot-Marie-Tooth disease, type 2J, 607736
Charcot-Marie-Tooth disease, type 2Y, 616687
Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Charcot-Marie-Tooth disease, type 4B1, 601382
Charcot-Marie-Tooth disease, type 4B2, 604563
Charcot-Marie-Tooth disease, type 4B3, 615284
Charcot-Marie-Tooth disease, type 4C, 601596
Charcot-Marie-Tooth disease, type 4D, 601455
Charcot-Marie-Tooth disease, type 4F, 614895
Charcot-Marie-Tooth disease, type 4H, 609311
Charcot-Marie-Tooth disease, type 4J, 611228
Charcot-Marie-Tooth disease, type 4K, 616684
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
Chediak-Higashi syndrome, 214500
Cherubism, OMIM:118400
Chilblain lupus, 610448
Chitayat syndrome, 617180
Cholestasis, benign recurrent intrahepatic, 2, 605479
Cholestasis, benign recurrent intrahepatic, 243300
Cholestasis, intrahepatic, of pregnancy, 3, 614972
Cholestasis, progressive familial intrahepatic 1, 211600
Cholestasis, progressive familial intrahepatic 2, 601847
Cholestasis, progressive familial intrahepatic 3, 602347
Cholestasis, progressive familial intrahepatic 4, 615878
Cholestasis, progressive familial intrahepatic, 5, 617049
Cholesteryl ester storage disease, 278000
Chondrocalcinosis 2, 118600
Chondrodysplasia punctata, X-linked dominant, 302960
Chondrodysplasia punctata, X-linked recessive, 302950
Chondrodysplasia with joint dislocations, GPAPP type, 614078
Chondrodysplasia, Blomstrand type, 215045
Chondrodysplasia, Grebe type, 200700
Chondrosarcoma, 215300
Chorea, hereditary benign, 118700
Choreoacanthocytosis, 200150
Choreoathetosis, hypothyroidism, neonatal respiratory distress
Choroideremia, 303100
Chromosome 11p15.5-Related Russell-Silver Syndrome
Chromosome 5q14.3 deletion syndrome, 613443
Chronic granulomatous disease due to deficiency of NCF-1, 233700
Chronic granulomatous disease due to deficiency of NCF-2, 233710
Chronic granulomatous disease, X-linked, 306400
Chronic granulomatous disease, autosomal, due to deficiency of CYBA
Chudley-McCullough syndrome, 604213
Chylomicron retention disease, 246700
Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Ciliary dyskinesia, primary, 11, 612649
Ciliary dyskinesia, primary, 12, 612650
Ciliary dyskinesia, primary, 13, 613193
Ciliary dyskinesia, primary, 14, 613807
Ciliary dyskinesia, primary, 15, 613808
Ciliary dyskinesia, primary, 17, 614679
Ciliary dyskinesia, primary, 19, 614935
Ciliary dyskinesia, primary, 2, 606763
Ciliary dyskinesia, primary, 20, 615067
Ciliary dyskinesia, primary, 23, 615451
Ciliary dyskinesia, primary, 24, 615481
Ciliary dyskinesia, primary, 25, 615482
Ciliary dyskinesia, primary, 27, 615504
Ciliary dyskinesia, primary, 28, 615505
Ciliary dyskinesia, primary, 29, 615872
Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Ciliary dyskinesia, primary, 32, 616481
Ciliary dyskinesia, primary, 33, 616726
Ciliary dyskinesia, primary, 38, 618063
Ciliary dyskinesia, primary, 40, 618300
Ciliary dyskinesia, primary, 5, 608647
Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
Cirrhosis due to liver phosphorylase kinase deficiency
Citrullinemia, 215700
Citrullinemia, adult-onset type II, 603471
Citrullinemia, type II, neonatal-onset, 605814
Cleft lip/palate-ectodermal dysplasia syndrome, 225060
Cleft palate with ankyloglossia, 303400
Cleft palate, cardiac defects, and mental retardation, OMIM:600987
Cleft palate, psychomotor retardation, distinctive facial features
Cleidocranial dysplasia, 119600
Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600
Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600
Clubfoot, congenital, +/- deficiency of long bones +/- mirror-image polydactyly
Cockayne syndrome, type A, 216400
Cockayne syndrome, type B, 133540
Cocoon syndrome, 613630
Coenzyme Q10 deficiency, primary, 1, 607426
Coenzyme Q10 deficiency, primary, 2, 614651
Coenzyme Q10 deficiency, primary, 3, 614652
Coenzyme Q10 deficiency, primary, 4, 612016
Coenzyme Q10 deficiency, primary, 5, 614654
Coenzyme Q10 deficiency, primary, 6, 614650
Coenzyme Q10 deficiency, primary, 7, 616276
Coffin-Lowry syndrome, 303600
Coffin-Siris syndrome 1, 135900
Coffin-Siris syndrome 10, 618506
Coffin-Siris syndrome 11, 618779
Coffin-Siris syndrome 2, 614607
Coffin-Siris syndrome 3, 614608
Coffin-Siris syndrome 4, 614609
Coffin-Siris syndrome 5, 616938
Coffin-Siris syndrome 6, 617808
Coffin-Siris syndrome 7, 618027
Coffin-Siris syndrome 8, 618362
Coffin-Siris syndrome 9, 615866
Cognitive impairment with or without cerebellar ataxia, 614306
Cohen syndrome, 216550
Cohen-Gibson syndrome, 617561
Cold-induced sweating syndrome 1, 272430
Cold-induced sweating syndrome 3, 617055
Cole disease, 615522
Cole-Carpenter syndrome 2, 616294
Coloboma of optic nerve, 120430
Coloboma, ocular, 120200
Colon cancer, advanced, somatic, 114500
Colorectal cancer, hereditary nonpolyposis, type 5, 614350
Combined C6/C7 deficiency
Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Combined SAP deficiency, 611721
Combined cellular and humoral immune defects with granulomas, 233650
Combined factor V and VIII deficiency, 227300
Combined hyperlipidemia, familial, 144250
Combined immunodeficiency, X-linked, moderate, 312863
Combined immunodeficiency, megaloblastic anemia +/- hyperhomocysteinemia
Combined malonic and methylmalonic aciduria, 614265
Combined oxidative phosphorylation deficiency 1, 609060
Combined oxidative phosphorylation deficiency 10, 614702
Combined oxidative phosphorylation deficiency 11, 614922
Combined oxidative phosphorylation deficiency 12, 614924
Combined oxidative phosphorylation deficiency 13, 614932
Combined oxidative phosphorylation deficiency 14, 614946
Combined oxidative phosphorylation deficiency 15 614947
Combined oxidative phosphorylation deficiency 17, 615440
Combined oxidative phosphorylation deficiency 18, 615578
Combined oxidative phosphorylation deficiency 20, 615917
Combined oxidative phosphorylation deficiency 23, 616198
Combined oxidative phosphorylation deficiency 24, 616239
Combined oxidative phosphorylation deficiency 25, 616430
Combined oxidative phosphorylation deficiency 26, 616539
Combined oxidative phosphorylation deficiency 27, 616672
Combined oxidative phosphorylation deficiency 28, 616794
Combined oxidative phosphorylation deficiency 3, 610505
Combined oxidative phosphorylation deficiency 30, 616974
Combined oxidative phosphorylation deficiency 31, 617228
Combined oxidative phosphorylation deficiency 32, 617664
Combined oxidative phosphorylation deficiency 33, 617713
Combined oxidative phosphorylation deficiency 35, 617873
Combined oxidative phosphorylation deficiency 36, 617950
Combined oxidative phosphorylation deficiency 37, 618329
Combined oxidative phosphorylation deficiency 39, 618397
Combined oxidative phosphorylation deficiency 4, 610678
Combined oxidative phosphorylation deficiency 40, 618835
Combined oxidative phosphorylation deficiency 5, 611719
Combined oxidative phosphorylation deficiency 6, 300816
Combined oxidative phosphorylation deficiency 7, 613559
Combined oxidative phosphorylation deficiency 8, 614096
Combined oxidative phosphorylation deficiency 9, 614582
Complement component 4, partial deficiency of, 120790
Complement factor 8 defect
Complement factor D deficiency, 613912
Complement factor H deficiency, 609814
Complement factor I deficiency, 610984
Complement hyperactivation, angiopathic thrombosis, protein-losing enteropathy
Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Cone-rod dystrophy 13, 608194
Cone-rod dystrophy 16, 614500
Cone-rod dystrophy 20, 615973
Cone-rod dystrophy 3, 604116
Cone-rod dystrophy, 604393
Cone-rod dystrophy, X-linked, 1, 304020
Cone-rod dystrophy, X-linked, 3, 300476
Cone-rod retinal dystrophy-2, 120970
Congenital anomal kidney, urinary tract syndrome +/- hearing loss, abn. ears, devel. delay
Congenital anomalies of kidney and urinary tract 1, 610805
Congenital anomalies of kidney and urinary tract 2, 143400
Congenital arthrogryposis with anterior horn cell disease, 611890
Congenital bilateral absence of vas deferens, 277180
Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Congenital cataracts, hearing loss, and neurodegeneration, 614482
Congenital contractures of the limbs, face, hypotonia, developmental delay
Congenital disorder of deglycosylation, 615273
Congenital disorder of glycosylation with defective fucosylation 1, 618005
Congenital disorder of glycosylation, type 1aa, 617082
Congenital disorder of glycosylation, type 1bb, 613861
Congenital disorder of glycosylation, type IIa, 212066
Congenital disorder of glycosylation, type IIb, 606056
Congenital disorder of glycosylation, type IIc, 266265
Congenital disorder of glycosylation, type IId, 607091
Congenital disorder of glycosylation, type IIe, 608779
Congenital disorder of glycosylation, type IIf, 603585
Congenital disorder of glycosylation, type IIg, 611209
Congenital disorder of glycosylation, type IIh, 611182
Congenital disorder of glycosylation, type IIi, 613612
Congenital disorder of glycosylation, type IIj, 613489
Congenital disorder of glycosylation, type IIk, 614727
Congenital disorder of glycosylation, type IIl, 614576
Congenital disorder of glycosylation, type IIm, 300896
Congenital disorder of glycosylation, type IIn, 616721
Congenital disorder of glycosylation, type IIo, 616828
Congenital disorder of glycosylation, type Ia, 212065
Congenital disorder of glycosylation, type Ib, OMIM:602579
Congenital disorder of glycosylation, type Ic, 603147
Congenital disorder of glycosylation, type Icc, 301031
Congenital disorder of glycosylation, type Id, 601110
Congenital disorder of glycosylation, type Ie, 608799
Congenital disorder of glycosylation, type If, 609180
Congenital disorder of glycosylation, type Ig, 607143
Congenital disorder of glycosylation, type Ih, 608104
Congenital disorder of glycosylation, type Ij, 608093
Congenital disorder of glycosylation, type Ik, 608540
Congenital disorder of glycosylation, type Il, 608776
Congenital disorder of glycosylation, type Im, 610768
Congenital disorder of glycosylation, type In, 612015
Congenital disorder of glycosylation, type Ip, 613661
Congenital disorder of glycosylation, type Iq, 612379
Congenital disorder of glycosylation, type It, 614921
Congenital disorder of glycosylation, type Iu, 615042
Congenital disorder of glycosylation, type Iy, 300934
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Congenital heart defects and ectodermal dysplasia, 617364
Congenital heart defects and skeletal malformations syndrome
Congenital heart defects, dysmorphic facial features, IDD
Congenital heart defects, multiple types, 4, 615779
Congenital heart defects, nonsyndromic, 1, X-linked, 306955
Congenital heart defects, nonsyndromic, 2, 614980
Congenital hydrocephalus
Congenital hypotonia, epilepsy, developmental delay, digital anomalies
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity s.
Congenital myopathy with excess of muscle spindles
Congenital myopathy with reduced type 2 muscle fibers
Congenital short bowel syndrome, 300048
Conotruncal anomaly face syndrome, 217095
Conotruncal heart malformations, variable, 217095
Contractural arachnodactyly, congenital, 121050
Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110
Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469
Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
Coproporphyria, 121300
Corneal dystrophy, Fuchs endothelial, 3, 613267
Corneal dystrophy, Fuchs endothelial, 4, 613268
Corneal endothelial dystrophy and perceptive deafness, 217400
Corneal endothelial dystrophy, autosomal recessive, 217700
Cornelia de Lange syndrome 1, 122470
Cornelia de Lange syndrome 2, OMIM:300590
Cornelia de Lange syndrome 3, 610759
Cornelia de Lange syndrome 4, 614701
Cornelia de Lange syndrome 5, 300882
Cornelia de Lange-like syndrome
Corpus callosum, partial agenesis of, 304100
Cortical dysplasia, complex, with other brain malformations 1, 614039
Cortical dysplasia, complex, with other brain malformations 2, 615282
Cortical dysplasia, complex, with other brain malformations 3, 615411
Cortical dysplasia, complex, with other brain malformations 4, 615412
Cortical dysplasia, complex, with other brain malformations 5
Cortical dysplasia, complex, with other brain malformations 6, 615771
Cortical dysplasia, complex, with other brain malformations 7, 610031
Cortical dysplasia, complex, with other brain malformations 8, 613180
Cortical dysplasia, complex, with other brain malformations 9, 618174
Cortical dysplasia-focal epilepsy syndrome, 610042
Cortical malformations, occipital, 614115
Cortical visual impairment;Intellectual disability
Costello syndrome, 218040
Cousin syndrome, 260660
Cowchock syndrome, 310490
Cowden syndrome 1, 158350
Cowden syndrome 6, 615109
Cowden syndrome 7, 616858
Craniodiaphyseal dysplasia, autosomal dominant, 122860
Cranioectodermal dysplasia 1, 218330
Cranioectodermal dysplasia 2, 613610
Cranioectodermal dysplasia 3, 614099
Craniofacial dysmorphism, skeletal anomalies, mental retardation syndrome
Craniofacial-deafness-hand syndrome, 122880
Craniofacial-skeletal-dermatologic dysplasia, 101600
Craniofrontonasal dysplasia, 304110
Craniometaphyseal dysplasia, 123000
Craniometaphyseal dysplasia, autosomal recessive, 218400
Cranioosteoarthropathy, 259100
Craniosynostosis 1, 123100
Craniosynostosis 2, 604757
Craniosynostosis 3, 615314
Craniosynostosis 4, 600775
Craniosynostosis 6, 616602
Craniosynostosis and dental anomalies, 614188
Craniosynostosis, nonspecific
Creatine phosphokinase, elevated serum, 123320
Creutzfeldt-Jakob disease, 123400
Crigler-Najjar syndrome, type I, 218800
Crigler-Najjar syndrome, type II, 606785
Crouzon syndrome with acanthosis nigricans, 612247
Crouzon syndrome, 123500
Cryohydrocytosis, 185020
Cryptophthalmos, unilateral or bilateral, isolated, 123570
Culler-Jones syndrome, 615849
Currarino syndrome, 176450
Cutis laxa, autosomal dominant 2, 614434
Cutis laxa, autosomal dominant 3, 616603
Cutis laxa, autosomal dominant, 123700
Cutis laxa, autosomal recessive, type IA, 219100
Cutis laxa, autosomal recessive, type IC, 613177
Cutis laxa, autosomal recessive, type IIA, 219200
Cutis laxa, autosomal recessive, type IIB, 612940
Cutis laxa, autosomal recessive, type IID, OMIM:617403
Cutis laxa, autosomal recessive, type IIIA, 219150
Cutis laxa, autosomal recessive, type IIIB, 614438
Cystathioninuria, 219500
Cystinosis, atypical nephropathic, 219800
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900
Cystinosis, nephropathic, 219800
Cystinosis, ocular nonnephropathic, 219750
Cystinuria, 220100
Czech dysplasia, 609162
D-2-hydroxyglutaric aciduria 2, 613657
D-2-hydroxyglutaric aciduria, 600721
D-bifunctional protein deficiency, 261515
D-glyceric aciduria, 220120
DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DIABETES AND DEAFNESS, MATERNALLY INHERITED
DOORS syndrome, 220500
DYSTONIA, ADULT-ONSET
DYSTONIA, MITOCHONDRIAL
Danon disease, 300257
De Sanctis-Cacchione syndrome, 278800
De la Chapelle dysplasia, 256050
Deafness, X-linked 1, 304500
Deafness, X-linked 2, 304400
Deafness, X-linked 4, 300066
Deafness, X-linked 5, 300614
Deafness, autosomal dominant 1, 124900
Deafness, autosomal dominant 10, 601316
Deafness, autosomal dominant 11, 601317
Deafness, autosomal dominant 13, 601868
Deafness, autosomal dominant 15, 602459
Deafness, autosomal dominant 17, 603622
Deafness, autosomal dominant 20/26, 604717
Deafness, autosomal dominant 22, 606346
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Deafness, autosomal dominant 23, 605192
Deafness, autosomal dominant 2A, 600101
Deafness, autosomal dominant 2B, 612644
Deafness, autosomal dominant 34, with or without inflammation
Deafness, autosomal dominant 36, 606705
Deafness, autosomal dominant 37, 618533
Deafness, autosomal dominant 39, with dentinogenesis, 605594
Deafness, autosomal dominant 3A, 601544
Deafness, autosomal dominant 4A, 600652
Deafness, autosomal dominant 5, 600994
Deafness, autosomal dominant 6/14/38, 600965
Deafness, autosomal dominant 65, 616044
Deafness, autosomal dominant 8/12, 601543
Deafness, autosomal dominant, with peripheral neuropathy
Deafness, autosomal recessive 12, 601386
Deafness, autosomal recessive 15, 601869
Deafness, autosomal recessive 16, 603720
Deafness, autosomal recessive 18A, 602092
Deafness, autosomal recessive 1A, 220290
Deafness, autosomal recessive 2, 600060
Deafness, autosomal recessive 21, 603629
Deafness, autosomal recessive 22, 607039
Deafness, autosomal recessive 23, 609533
Deafness, autosomal recessive 28, 609823
Deafness, autosomal recessive 29, 614035
Deafness, autosomal recessive 3, 600316
Deafness, autosomal recessive 30, 607101
Deafness, autosomal recessive 35, 608565
Deafness, autosomal recessive 37, 607821
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Deafness, autosomal recessive 42, 609646
Deafness, autosomal recessive 48, 609439
Deafness, autosomal recessive 49, 610153
Deafness, autosomal recessive 53, 609706
Deafness, autosomal recessive 59, 610220
Deafness, autosomal recessive 6, 600971
Deafness, autosomal recessive 63, 611451
Deafness, autosomal recessive 66, 610212
Deafness, autosomal recessive 67, 610265
Deafness, autosomal recessive 7, 600974
Deafness, autosomal recessive 70, 614934
Deafness, autosomal recessive 77, 613079
Deafness, autosomal recessive 8/10, 601072
Deafness, autosomal recessive 84B, 614944
Deafness, autosomal recessive 86, 614617
Deafness, autosomal recessive 89, 613916
Deafness, autosomal recessive 9, 601071
Deafness, autosomal recessive 94, 618434
Deafness, congenital heart defects, posterior embryotoxon
Deafness, congenital with inner ear agenesis, microtia, and microdontia
Deafness, congenital, with onychodystrophy, autosomal dominant
Deafness, digenic, GJB2/GJB3, 220290
Deafness, dystonia, and cerebral hypomyelination, 300475
Defects with susceptibility to mycobacterial infection (MSMD)
Dehydrated hereditary stomatocytosis +/- pseudohyperkalemia +/- perinatal edema
Dejerine-Sottas disease, 145900
Dementia, familial, nonspecific, 600795
Dementia, frontotemporal, 600274
Dementia, frontotemporal, with or without parkinsonism, 600274
Dent disease 2, 300555
Dent disease, 300009
Dental anomalies and short stature, 601216
Dentatorubral-pallidoluysian atrophy, OMIM:125370
Dentin dysplasia, type II, 125420
Dentinogenesis imperfecta, Shields type II, 125490
Dentinogenesis imperfecta, Shields type III, 125500
Denys-Drash syndrome, 194080
Dermatofibrosarcoma protuberans, 607907
Dermatopathia pigmentosa reticularis, 125595
Desanto-Shinawi syndrome, 616708
Desbuquois dysplasia 1, 251450
Desbuquois dysplasia 2, 615777
Desmoid disease, hereditary, 135290
Desmosterolosis, 602398
Developmental and epileptic encephalopathy 29, OMIM:616339
Developmental and epileptic encephalopathy 93, OMIM:618012
Developmental and epileptic encephalopathy, 85, +/- midline brain defects
Developmental delay +/- dysmorphic facies and autism, 618454
Developmental delay and seizures with or without movement abnormalities
Developmental delay with short stature, dysmorphic facies, sparse hair
Developmental delay, intellectual disability, obesity, dysmorphism
Developmental delay, variable intellectual impairment, behavioral abnorm.
Developmental epileptic encephalopathy
Developmental epileptic encephalopathy with hypomyelination and brain atrophy;
DiGeorge syndrome, 188400
Diabetes insipidus, nephrogenic, 304800
Diabetes mellitus, insulin-resistant, with acanthosis nigricans
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
Diabetes mellitus, noninsulin-dependent, 125853
Diabetes mellitus, noninsulin-dependent, late onset, 125853
Diabetes mellitus, permanent neonatal, 606176
Diabetes mellitus, transient neonatal, 1, 601410
Diabetes mellitus, transient neonatal, 2, 610374
Diabetes mellitus, transient neonatal, 3, 610582
Diabetes, permanent neonatal, +/- neurologic features
Diamond-Blackfan anemia 1, 105650
Diamond-Blackfan anemia 10, 613309
Diamond-Blackfan anemia 4, 612527
Diamond-Blackfan anemia 5, 612528
Diamond-Blackfan anemia 6, 612561
Diamond-Blackfan anemia 7, 612562
Diamond-Blackfan anemia 8, 612563
Diamond-Blackfan anemia 9, 613308
Diamond-blackfan anemia 3, 610629
Diaphanospondylodysostosis, 608022
Diarrhea 1, secretory chloride, congenital, 214700
Diarrhea 6, 614616
Dias-Logan syndrome, 617101
Diastrophic dysplasia, 222600
Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280
Digital arthropathy-brachydactyly, familial, 606835
Digital clubbing, isolated congenital, 119900
Dihydrolipoamide dehydrogenase deficiency, 246900
Dihydropyrimidine dehydrogenase deficiency, 274270
Dihydropyrimidinuria, 222748
Dilated cardiomyopathy, woolly hair, keratoderma, tooth agenesis
Disordered steroidogenesis due to cytochrome P450 oxidoreductase
Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
Donnai-Barrow syndrome, 222448
Dowling-Degos disease 1, 179850
Du Pan syndrome, 228900
Duane retraction syndrome 3, 617041
Duane-radial ray syndrome, 607323
Dubin-Johnson syndrome, 237500
Duchenne muscular dystrophy, 310200
Dursun syndrome, 612541
Dyggve-Melchior-Clausen disease, 223800
Dysalbuminemic hyperthyroxinemia
Dysalbuminemic hypertriiodothyroninemia
Dysautonomia, familial, 223900
Dyschromatosis symmetrica hereditaria, 127400
Dyserythropoietic anemia, congenital, type II, 224100
Dyserythropoietic anemia, congenital, type IV, 613673
Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
Dyserythropoietic anemia, congenital, type Ib, OMIM:615631
Dysfibrinogenemia, congenital, 616004
Dyskeratosis congenita, X-linked, 305000
Dyskeratosis congenita, autosomal dominant 1, 127550
Dyskeratosis congenita, autosomal dominant 2, 613989
Dyskeratosis congenita, autosomal dominant 3, 613990
Dyskeratosis congenita, autosomal dominant 4, 615190
Dyskeratosis congenita, autosomal recessive 1, 224230
Dyskeratosis congenita, autosomal recessive 2, 613987
Dyskeratosis congenita, autosomal recessive 3, 613988
Dyskeratosis congenita, autosomal recessive 4, 613989
Dyskeratosis congenita, autosomal recessive 5, 615190
Dyskeratosis congenita, autosomal recessive 6, 616353
Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Dyskinesia, familial, with facial myokymia, 606703
Dyskinesia, limb and orofacial, infantile-onset, 616921
Dyskinesia, seizures, and intellectual developmental disorder, 617171
Dysplasminogenemia, 217090
Dysprothrombinemia, 613679
Dyssegmental dysplasia, Silverman-Handmaker type
Dystonia 16, 612067
Dystonia 2, torsion, autosomal recessive, 224500
Dystonia 24, 615034
Dystonia 25, 615073
Dystonia 27, 616411
Dystonia 28, childhood-onset, 617284
Dystonia 4, torsion, autosomal dominant, 128101
Dystonia 6, torsion, 602629
Dystonia 9, 601042
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
Dystonia, childhood-onset, optic atrophy, basal ganglia abnormalities
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441
Dystonia-11, myoclonic, 159900
Dystonia-12, 128235
Dystonia-Parkinsonism, X-linked, 314250
EBD inversa, 226600
EBD, Bart type, 132000
EBD, localisata variant
ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL
ENCEPHALOMYOPATHY, MITOCHONDRIAL
ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING
ENCEPHALOPATHY, MITOCHONDRIAL
EPILEPSY, MITOCHONDRIAL
EXERCISE INTOLERANCE
EXERCISE INTOLERANCE, CARDIOMYOPATHY, SEPTOOPTIC DYSPLASIA
Early-onset progr. diffuse brain atrophy-microc.-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, AD
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, AR
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, AD
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, AR
Ectodermal dysplasia 3, Witkop type, 189500
Ectodermal dysplasia 9, hair/nail type, 614931
Ectodermal dysplasia and immunodeficiency 1, 300291
Ectodermal dysplasia and immunodeficiency 2, 612132
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Ectodermal dysplasia-syndactyly syndrome 1, 613573
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
Ectopia lentis, familial, 129600
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821
Ehlers-Danlos syndrome, cardiac valvular type, 225320
Ehlers-Danlos syndrome, classic type, 1, 130000
Ehlers-Danlos syndrome, classic type, 2, 130010
Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400
Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers-Danlos syndrome, musculocontractural type 1, 601776
Ehlers-Danlos syndrome, periodontal type, 1, 130080
Ehlers-Danlos syndrome, periodontal type, 2, 617174
Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349
Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350
Ehlers-Danlos syndrome, vascular type, 130050
Eiken syndrome, 600002
Elliptocytosis-1, 611804
Elliptocytosis-2, 130600
Elliptocytosis-3, 617948
Ellis-van Creveld syndrome, 225500
Elsahy-Waters syndrome, 211380
Emberger syndrome, 614038
Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998
Emery-Dreifuss muscular dystrophy 6, X-linked, 300696
Emery-Dreifuss muscular dystrophy 7, AD, 614302
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Encephalop-. progressive, early-onset, brain edema +/- leukoencephalopathy
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 1
Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 2
Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 6
Encephalopathy, lethal, defective mitochondrial peroxisomal fission 1
Encephalopathy, neonatal severe, 300673
Encephalopathy, neonatal severe, lactic acidosis, brain abnormalities
Encephalopathy, progressive, early-onset, brain atrophy and spasticity
Encephalopathy, progressive, early-onset, brain atrophy, thin corpus callosum
Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207
Encephalopathy, progressive, with or without lipodystrophy, 615924
Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Endocrine-cerebroosteodysplasia, OMIM:612651
Enlarged vestibular aqueduct, digenic, 600791
Epidermodysplasia verruciformis 2, 618231
Epidermodysplasia verruciformis, 226400
Epidermolysis bullosa dystrophica, AD, 131750
Epidermolysis bullosa dystrophica, AR, 226600
Epidermolysis bullosa of hands and feet, 131800
Epidermolysis bullosa pruriginosa, 604129
Epidermolysis bullosa simplex with muscular dystrophy, 226670
Epidermolysis bullosa simplex with nail dystrophy, 616487
Epidermolysis bullosa simplex with pyloric atresia, 612138
Epidermolysis bullosa simplex, Dowling-Meara type, 131760
Epidermolysis bullosa simplex, Koebner type, 131900
Epidermolysis bullosa simplex, Ogna type, 131950
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
Epidermolysis bullosa simplex, recessive 1, 601001
Epidermolysis bullosa simplex-MCR, 609352
Epidermolysis bullosa simplex-MP, 131960
Epidermolysis bullosa, generalized atrophic benign, 226650
Epidermolysis bullosa, junctional, Herlitz type, 226700
Epidermolysis bullosa, junctional, localisata variant, 226650
Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Epidermolysis bullosa, junctional, with pyloric atresia, 226730
Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
Epidermolysis bullosa, lethal acantholytic, 609638
Epidermolysis bullosa, pretibial, 131850;
Epilepsy, X-linked, with variable learning disabilities, behavior disorders, 300491
Epilepsy, childhood absence, susceptibility to, 4, 611136
Epilepsy, early-onset, vitamin B6-dependent, 617290
Epilepsy, familial adult myoclonic, 1, 601068
Epilepsy, familial focal, with variable foci 1, 604364
Epilepsy, familial focal, with variable foci 3, 617118
Epilepsy, familial focal, with variable foci 4, 617935
Epilepsy, familial temporal lobe, 1, 600512
Epilepsy, familial temporal lobe, 5, 614417
Epilepsy, focal, with speech disorder and with or without mental retardation
Epilepsy, generalized, with febrile seizures plus, type 1, 604233
Epilepsy, generalized, with febrile seizures plus, type 2, 604403
Epilepsy, generalized, with febrile seizures plus, type 3, 607681
Epilepsy, generalized, with febrile seizures plus, type 7, 613863
Epilepsy, hearing loss, and mental retardation syndrome, 616577
Epilepsy, idiopathic generalized, susceptibility to, 11, 607628
Epilepsy, idiopathic generalized, susceptibility to, 12, 614847
Epilepsy, idiopathic generalized, susceptibility to, 15
Epilepsy, juvenile absence, susceptibility to, 1, 607631
Epilepsy, juvenile absence, susceptibility to, 2, 607628
Epilepsy, juvenile myoclonic, susceptibility to, 10
Epilepsy, juvenile myoclonic, susceptibility to, 5, 611136
Epilepsy, juvenile myoclonic, susceptibility to, 8, 607628
Epilepsy, nocturnal frontal lobe, 1, 600513
Epilepsy, nocturnal frontal lobe, 3, 605375
Epilepsy, nocturnal frontal lobe, 5, 615005
Epilepsy, nocturnal frontal lobe, type 4, 610353
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Epilepsy, progressive myoclonic 1B, 612437
Epilepsy, progressive myoclonic 2A (Lafora), 254780
Epilepsy, progressive myoclonic 2B (Lafora), 254780
Epilepsy, progressive myoclonic 3, +/- intracellular inclusions
Epilepsy, progressive myoclonic 4, with or without renal failure, 254900
Epilepsy, progressive myoclonic 6, 614018
Epilepsy, progressive myoclonic 7, 616187
Epilepsy, pyridoxine-dependent, 266100
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105
Epileptic encephalopathy and intellectual disability
Epileptic encephalopathy, childhood-onset, 615369
Epileptic encephalopathy, early infantile, 1, 308350
Epileptic encephalopathy, early infantile, 11, 613721
Epileptic encephalopathy, early infantile, 12, 613722
Epileptic encephalopathy, early infantile, 13, 614558
Epileptic encephalopathy, early infantile, 14, 614959
Epileptic encephalopathy, early infantile, 15, 615006
Epileptic encephalopathy, early infantile, 16, 615338
Epileptic encephalopathy, early infantile, 17, 615473
Epileptic encephalopathy, early infantile, 18, 615476
Epileptic encephalopathy, early infantile, 19, 615744
Epileptic encephalopathy, early infantile, 2, 300672
Epileptic encephalopathy, early infantile, 23, 615859
Epileptic encephalopathy, early infantile, 24, 615871
Epileptic encephalopathy, early infantile, 25, 615905
Epileptic encephalopathy, early infantile, 26, 616056
Epileptic encephalopathy, early infantile, 27, 616139
Epileptic encephalopathy, early infantile, 28, 616211
Epileptic encephalopathy, early infantile, 3, 609304
Epileptic encephalopathy, early infantile, 30, 616341
Epileptic encephalopathy, early infantile, 31, 616346
Epileptic encephalopathy, early infantile, 32, 616366
Epileptic encephalopathy, early infantile, 33, 616409
Epileptic encephalopathy, early infantile, 34, 616645
Epileptic encephalopathy, early infantile, 35, 616647
Epileptic encephalopathy, early infantile, 36, 300884
Epileptic encephalopathy, early infantile, 37, 616981
Epileptic encephalopathy, early infantile, 38, 617020
Epileptic encephalopathy, early infantile, 39, 612949
Epileptic encephalopathy, early infantile, 4, 612164
Epileptic encephalopathy, early infantile, 41, 617105
Epileptic encephalopathy, early infantile, 42, 617106
Epileptic encephalopathy, early infantile, 43, 617113
Epileptic encephalopathy, early infantile, 44, 617132
Epileptic encephalopathy, early infantile, 46, 617162
Epileptic encephalopathy, early infantile, 47, 617166
Epileptic encephalopathy, early infantile, 48, 617276
Epileptic encephalopathy, early infantile, 49, 617281
Epileptic encephalopathy, early infantile, 5, 613477
Epileptic encephalopathy, early infantile, 50, 616457
Epileptic encephalopathy, early infantile, 51, 617339
Epileptic encephalopathy, early infantile, 52, 617350
Epileptic encephalopathy, early infantile, 53, 617389
Epileptic encephalopathy, early infantile, 54, 617391
Epileptic encephalopathy, early infantile, 56, 617665
Epileptic encephalopathy, early infantile, 58, 617830
Epileptic encephalopathy, early infantile, 59, 617904
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Epileptic encephalopathy, early infantile, 60, 617929
Epileptic encephalopathy, early infantile, 62, 617938
Epileptic encephalopathy, early infantile, 64, 618004
Epileptic encephalopathy, early infantile, 65, 618008
Epileptic encephalopathy, early infantile, 66, 618067
Epileptic encephalopathy, early infantile, 67, 618141
Epileptic encephalopathy, early infantile, 68, 618201
Epileptic encephalopathy, early infantile, 69, 618285
Epileptic encephalopathy, early infantile, 7, 613720
Epileptic encephalopathy, early infantile, 70, 618298
Epileptic encephalopathy, early infantile, 74, 618396
Epileptic encephalopathy, early infantile, 75, 618437
Epileptic encephalopathy, early infantile, 76, 618468
Epileptic encephalopathy, early infantile, 77, 618548
Epileptic encephalopathy, early infantile, 78, 618557
Epileptic encephalopathy, early infantile, 8, 300607
Epileptic encephalopathy, early infantile, 80, 618580
Epileptic encephalopathy, early infantile, 9, 300088
Epileptic encephalopathy, infantile or early childhood, 1, 617711
Epileptic encephalopathy, infantile or early childhood, 2, 617829
Epiphyseal chondrodysplasia, Miura type, 615923
Epiphyseal dysplasia, multiple, 1, 132400
Epiphyseal dysplasia, multiple, 2, 600204
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969
Epiphyseal dysplasia, multiple, 4, 226900
Epiphyseal dysplasia, multiple, 5, 607078
Epiphyseal dysplasia, multiple, 6, 614135
Epiphyseal dysplasia, multiple, 7, 617719
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Episodic ataxia, type 2, 108500
Episodic ataxia, type 5, 613855
Episodic ataxia, type 6, 612656
Episodic ataxia/myokymia syndrome, 160120
Episodic kinesigenic dyskinesia 1, 128200
Episodic pain syndrome, familial, 3, 615552
Epithelial recurrent erosion dystrophy, 122400
Erythermalgia, primary, 133020
Erythrocyte lactate transporter defect, 245340
Erythrocytosis 6, 617980
Erythrocytosis 7, 617981
Erythrocytosis, familial, 2, 263400
Erythrokeratodermia variabilis et progressiva 1, 133200
Erythrokeratodermia variabilis et progressiva 3, 617525
Erythrokeratodermia variabilis et progressiva 4, 617526
Erythrokeratodermia veriabilis et progressiva 6, 618531
Escobar syndrome, 265000
Ethylmalonic encephalopathy, 602473
Exostoses, multiple, type 1, 133700
Exostoses, multiple, type 2, 133701
Exudative vitreoretinopathy 2, X-linked, 305390
Exudative vitreoretinopathy 4, 601813
Exudative vitreoretinopathy 7, 617572
FG syndrome 2, 300321
FG syndrome 4, 300422
FILS syndrome, 615139
FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY
Fabry disease, 301500
Fabry disease, cardiac variant, 301500
Facial clefting, oblique, 1, 600251;Hypertelorism, Teebi type, 145420
Facial dysmorph., hypertrichosis, epilepsy, ID, ging. overgrowth s.
Factor V and factor VIII, combined deficiency of, 613625
Factor V deficiency, 227400
Factor VII deficiency, 227500
Factor X deficiency, 227600
Factor XI deficiency, autosomal dominant, 612416
Factor XI deficiency, autosomal recessive, 612416
Factor XII deficiency, OMIM:234000
Factor XIIIA deficiency, 613225
Factor XIIIB deficiency, 613235
Failure of tooth eruption, primary, 125350
Familial Mediterranean fever, AD, OMIM:134610
Familial Mediterranean fever, AR, OMIM:249100
Familial cold autoinflammatory syndrome 2, OMIM:611762
Familial cold autoinflammatory syndrome 3, OMIM:614468
Familial cold autoinflammatory syndrome 4, OMIM:616115
Familial cold inflammatory syndrome 1, OMIM:120100
Fanconi anemia, complementation group A, 227650
Fanconi anemia, complementation group B, 300514
Fanconi anemia, complementation group C, 227645
Fanconi anemia, complementation group D1, 605724
Fanconi anemia, complementation group D2, 227646
Fanconi anemia, complementation group E, 600901
Fanconi anemia, complementation group F, 603467
Fanconi anemia, complementation group G, 614082
Fanconi anemia, complementation group I, 609053
Fanconi anemia, complementation group J, 609054
Fanconi anemia, complementation group L, 614083
Fanconi anemia, complementation group N, 610832
Fanconi anemia, complementation group P, 613951
Fanconi anemia, complementation group Q, 615272
Fanconi anemia, complementation group S, 617883
Fanconi anemia, complementation group T, 616435
Fanconi renotubular syndrome 4, + maturity-onset diabetes of young
Fanconi-Bickel syndrome, 227810
Farber lipogranulomatosis, 228000
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
Fatty liver, acute, of pregnancy, 609016
Fazio-Londe disease, 211500
Febrile seizures
Febrile seizures, familial, 11, 614418
Febrile seizures, familial, 3A, 604403
Febrile seizures, familial, 3B, 613863
Febrile seizures, familial, 8, 607681
Feingold syndrome 1, 164280
Fetal akinesia deformation sequence 1, 208150
Fetal akinesia deformation sequence 2, 618388
Fetal akinesia deformation sequence 3, 618389
Fibrochondrogenesis 1, 228520
Fibrochondrogenesis 2, 614524
Fibrodysplasia ossificans progressiva, 135100
Fibrosis of extraocular muscles, congenital, 1, 135700
Fibrosis of extraocular muscles, congenital, 3A, 600638
Fibrosis of extraocular muscles, congenital, 3B, 135700
Filippi syndrome, 272440
Fish-eye disease, 136120
Fletcher factor (prekallikrein) deficiency, 612423
Floating-Harbor syndrome, 136140
Focal dermal hypoplasia, 305600
Focal facial dermal dysplasia 3, Setleis type, 227260;Barber-Say syndrome, 209885
Focal segmental glomerulosclerosis 9, 616220
Folate malabsorption, hereditary, 229050
Fontaine progeroid syndrome, 612289
Foveal hypoplasia 1, 136520
Fragile X syndrome, 300624
Fragile X tremor/ataxia syndrome, 300623
Frank-ter Haar syndrome, 249420
Fraser syndrome 1, 219000
Fraser syndrome 2, 617666
Fraser syndrome 3, 617667
Frasier syndrome, 136680
Friedreich ataxia OMIM:229300
Friedreich ataxia with retained reflexes OMIM:229300
Frontometaphyseal dysplasia 1, 305620
Frontometaphyseal dysplasia 2, 617137
Frontonasal dysplasia 1, 136760
Frontonasal dysplasia 2, 613451
Frontonasal dysplasia 3, 613456
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439
Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485
Frontotemporal lobar degeneration, TARDBP-related, 612069
Fructose intolerance, hereditary, 229600
Fructose-1,6-bisphosphatase deficiency, 229700
Fucosidosis, 230000
Fuhrmann syndrome, 228930
Fumarase deficiency, 606812
Fundus flavimaculatus, 248200
GABA-transaminase deficiency, 613163
GAPO syndrome, 230740
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
GLUT1 deficiency syndrome 2, childhood onset, 612126
GM1-gangliosidosis, type I, 230500
GM1-gangliosidosis, type II, 230600
GM1-gangliosidosis, type III, 230650
GM2-gangliosidosis, AB variant, 272750
GM2-gangliosidosis, several forms, 272800
GRACILE syndrome, 603358
Gabriele-de Vries syndrome, 617557
Galactokinase deficiency with cataracts, 230200
Galactose epimerase deficiency, 230350
Galactosemia, 230400
Galactosialidosis, 256540
Gallbladder disease 1, 600803
Galloway-Mowat syndrome 1, 251300
Galloway-Mowat syndrome 2, X-linked, 301006
Galloway-Mowat syndrome 3, 617729
Galloway-Mowat syndrome 4, 617730
Galloway-Mowat syndrome 5, 617731
Galloway-Mowat syndrome 6, 618347
Galloway-Mowat syndrome 7, 618348
Gardner syndrome, 175100
Gastrointestinal defects and immunodeficiency syndrome, 243150
Gastrointestinal stromal tumor, 606764
Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372
Gaucher disease, atypical, 610539
Gaucher disease, perinatal lethal, 608013
Gaucher disease, type I, 230800
Gaucher disease, type II, 230900
Gaucher disease, type III, 231000
Gaucher disease, type IIIC, 231005
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
Geleophysic dysplasia 1, 231050
Geleophysic dysplasia 2, 614185
Geleophysic dysplasia 3, 617809
Generalized epilepsy with febrile seizures plus, type 10, 618482
Generalized epilepsy with febrile seizures plus, type 9, 616172
Generalized epilepsy-paroxysmal dyskinesia syndrome
Generalized hypotonia
Generalized hypotonia, Feeding difficulties, Profound global developmental delay
Generalized hypotonia;Feeding difficulties
Genitopatellar syndrome, 606170
Geroderma osteodysplasticum, 231070
Gerstmann-Straussler disease, 137440
Ghosal hematodiaphyseal syndrome, 231095
Giant axonal neuropathy-1, 256850
Giant platelet disorder, isolated, 231200
Gillespie syndrome, 206700
Gillessen-Kaesbach-Nishimura syndrome, 263210
Gitelman syndrome, 263800
Glanzmann thrombasthenia, 273800
Glass syndrome, 612313
Glaucoma 3, primary congenital, D, 613086
Glaucoma 3, primary congenital, E, 617272
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
Global developmental delay
Global developmental delay +/- impaired intellectual development
Global developmental delay, ID, Seizures, Abnorm. nervous system morphology
Global developmental delay, absent/hypoplastic corpus callosum, dysmorphic facies
Global developmental delay;Intellectual disability
Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886
Glomerulopathy with fibronectin deposits 2, 601894
Glomerulosclerosis, focal segmental, 1, 603278
Glomerulosclerosis, focal segmental, 2, 603965
Glomerulosclerosis, focal segmental, 5, 613237
Glomerulosclerosis, focal segmental, 6, 614131
Glomerulosclerosis, focal segmental, 7, 616002
Glomuvenous malformations, 138000
Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200
Glucose/galactose malabsorption, 606824
Glutamate formiminotransferase deficiency, 229100
Glutamine deficiency, congenital, 610015
Glutaric acidemia IIA, 231680
Glutaric acidemia IIB, 231680
Glutaric acidemia IIC, 231680
Glutaricaciduria, type I, 231670
Glutathione synthetase deficiency, 266130
Glycerol kinase deficiency, 307030
Glycine N-methyltransferase deficiency, 606664
Glycine encephalopathy with normal serum glycine, 617301
Glycine encephalopathy, 605899
Glycogen storage disease 0, liver, 240600
Glycogen storage disease 0, muscle, 611556
Glycogen storage disease II, 232300
Glycogen storage disease IIIa, 232400
Glycogen storage disease IIIb, 232400
Glycogen storage disease IV, 232500
Glycogen storage disease IXc, 613027
Glycogen storage disease Ia, 232200
Glycogen storage disease Ib, 232220
Glycogen storage disease Ic, 232240
Glycogen storage disease VI, 232700
Glycogen storage disease VII, 232800
Glycogen storage disease X, 261670
Glycogen storage disease XI, 612933
Glycogen storage disease XII, 611881
Glycogen storage disease XIII, 612932
Glycogen storage disease XV, 613507
Glycogen storage disease of heart, lethal congenital, 261740
Glycogen storage disease, type IXa1, 306000
Glycogen storage disease, type IXa2, 306000
Glycosylphosphatidylinositol biosynthesis defect 11, 616025
Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Glycosylphosphatidylinositol biosynthesis defect 16, 617816
Glycosylphosphatidylinositol biosynthesis defect 17, 618010
Glycosylphosphatidylinositol biosynthesis defect 21, 618590
Gnathodiaphyseal dysplasia, 166260
Goldberg-Shprintzen megacolon syndrome, 609460
Gout, PRPS-related, 300661;Arts syndrome, 301835
Gracile bone dysplasia, 602361
Gray platelet syndrome, 139090
Greenberg skeletal dysplasia, 215140
Greig cephalopolysyndactyly syndrome, 175700
Griscelli syndrome, type 1, 214450
Griscelli syndrome, type 2, 607624
Growth hormone deficiency with pituitary anomalies, 182230
Growth hormone deficiency, isolated, type IA, 262400
Growth hormone deficiency, isolated, type IB, 612781
Growth hormone deficiency, isolated, type II, 173100
Growth hormone deficiency, isolated, type IV, 618157
Growth hormone insensitivity with immunodeficiency, 245590
Growth hormone insensitivity, partial, 604271
Growth retardation with deafness, mental retardation due to IGF1 deficiency
Growth retardation, impaired intellectual development, hypotonia, hepatopathy
Guttmacher syndrome, 176305
Gyrate atrophy of choroid and retina with or without ornithinemia
HARP syndrome, 607236
HDL deficiency, familial, 1, 604091
HELLP syndrome, maternal, of pregnancy, 609016
HMG-CoA lyase deficiency, 246450
HMG-CoA synthase-2 deficiency, 605911
HNRNPH1-related neurodevelopmental disorder
HPRT-related gout, 300323
HSAN2D, autosomal recessive, 243000
HSD10 mitochondrial disease, 300438
HYPERTENSION, HYPERCHOLESTEROLEMIA, HYPOMAGNESEMIA, MITOCHONDRIAL
Haim-Munk syndrome, 245010
Hajdu-Cheney syndrome, 102500
Hamamy syndrome, 611174
Hand-foot-uterus syndrome, 140000
Harderoporphyria, 121300
Harel-Yoon syndrome, 617183
Hartnup disorder, 234500
Hartsfield syndrome, 615465
Hawkinsinuria, 140350
Hay-Wells syndrome, 106260
Heart-hand syndrome, Slovenian type, 610140
Heimler syndrome 1, 234580
Heimler syndrome 2, 616617
Heinz body anemia, 140700
Heinz body anemias, alpha-, 140700
Helsmoortel-van der Aa syndrome, 615873
Hematuria, benign familial, 141200
Hematuria, familial benign, 141200
Hemochromatosis, 235200
Hemochromatosis, type 2A, 602390
Hemochromatosis, type 2B, 613313
Hemochromatosis, type 3, 604250
Hemochromatosis, type 4, 606069
Hemoglobin H disease, deletional and nondeletional, 613978
Hemoglobin H disease, nondeletional, 613978
Hemolytic anemia due to adenylate kinase deficiency, 612631
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Hemolytic anemia due to glutathione synthetase deficiency, 231900
Hemolytic anemia due to hexokinase deficiency, 235700
Hemolytic anemia due to triosephosphate isomerase deficiency, 615512
Hemolytic anemia, CD59-mediated, +/- immune-mediated polyneuropathy
Hemolytic anemia, G6PD deficient (favism), 300908
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Hemophagocytic lymphohistiocytosis, familial, 2, 603553
Hemophagocytic lymphohistiocytosis, familial, 3, 608898
Hemophagocytic lymphohistiocytosis, familial, 4, 603552
Hemophagocytic lymphohistiocytosis, familial, 5, 613101
Hemophilia A, 306700
Hemophilia B, 306900
Hemorrhagic brain destruction, subependymal calcification, cataracts
Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
Hepatic venoocclusive disease with immunodeficiency, 235550
Hepatosplenomegaly
Hereditary motor and sensory neuropathy VIA, 601152
Hereditary motor and sensory neuropathy, Okinawa type, 604484
Hereditary motor and sensory neuropathy, type IIc, 606071
Hereditary persistence of fetal hemoglobin, 141749
Hereditary spastic paraplegia 47, MONDO:0013551
Hermansky-Pudlak syndrome 1, 203300
Hermansky-Pudlak syndrome 10, 617050
Hermansky-Pudlak syndrome 2, 608233
Hermansky-Pudlak syndrome 3, 614072
Hermansky-Pudlak syndrome 4, 614073
Hermansky-Pudlak syndrome 5, 614074
Hermansky-Pudlak syndrome 6, 614075
Hermansky-Pudlak syndrome 7, 614076
Hermansky-Pudlak syndrome 8, 614077
Hermansky-Pudlak syndrome 9, 614171
Heterotaxy, visceral, 1, X-linked, 306955
Heterotaxy, visceral, 2, autosomal, 605376
Heterotaxy, visceral, 4, autosomal, 613751
Heterotaxy, visceral, 5, 270100
Heterotaxy, visceral, 7, autosomal, 616749
Heterotaxy, visceral, 8, autosomal, 617205
Heterotopia, periventricular, 1, 300049
Hex A pseudodeficiency, 272800
Histiocytosis-lymphadenopathy plus syndrome, 602782
Holocarboxylase synthetase deficiency, 253270
Holoprosencephaly 11, 614226
Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Holoprosencephaly 2, 157170
Holoprosencephaly 3, 142945
Holoprosencephaly 4, 142946
Holoprosencephaly 5, 609637
Holoprosencephaly 7, 610828
Holoprosencephaly 9, 610829
Holt-Oram syndrome, 142900
Homocysteine, total plasma, elevated
Homocystinuria due to MTHFR deficiency, 236250
Homocystinuria, B6-responsive and nonresponsive types, 236200
Homocystinuria, cblD type, variant 1, 277410
Homocystinuria-megaloblastic anemia, cbl E type, 236270
Homocystinuria-megaloblastic anemia, cblG complementation type
Huntington disease, 143100
Huntington disease-like 1, 603218
Huntington disease-like 2, OMIM:606438
Hutchinson-Gilford progeria, 176670
Hyaline fibromatosis syndrome, 228600
Hydranencephaly with abnormal genitalia, 300215
Hydrocephalus due to aqueductal stenosis, 307000
Hydrocephalus with Hirschsprung disease, 307000
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000
Hydrocephalus, congenital, 1, 236600
Hydrocephalus, congenital, 3, with brain anomalies, 617967
Hydrolethalus syndrome 2, 614120
Hydrolethalus syndrome, 236680
Hydrops, lactic acidosis, sideroblastic anemia, OMIM:617021
Hydroxykynureninuria, 236800
Hyper-IgD syndrome, OMIM:260920
Hyper-IgE recurrent infection syndrome, 147060
Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700
Hyperaldosteronism, familial, type II, 605635
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Hyperbilirubinemia, familial transient neonatal, 237900
Hypercholanemia, familial, 607748
Hypercholesterolemia, familial, 1, 143890
Hypercholesterolemia, familial, 2, 144010
Hypercholesterolemia, familial, 3, 603776
Hypercholesterolemia, familial, 4, 603813
Hyperchylomicronemia, late-onset, 144650
Hyperekplexia 1, 149400
Hyperekplexia 2, 614619
Hyperekplexia 3, 614618
Hyperekplexia 4, 618011
Hyperferritinemia-cataract syndrome, 600886
Hyperglycinemia, lactic acidosis, and seizures, 614462
Hyperglycinuria, 138500
Hyperinsulinemic hypoglycemia, familial, 1, 256450
Hyperinsulinemic hypoglycemia, familial, 2, 601820
Hyperinsulinemic hypoglycemia, familial, 3, 602485
Hyperinsulinemic hypoglycemia, familial, 4, 609975
Hyperinsulinemic hypoglycemia, familial, 5, 609968
Hyperinsulinemic hypoglycemia, familial, 7, 610021
Hyperinsulinism-hyperammonemia syndrome, 606762
Hyperkalemic periodic paralysis, type 2, 170500
Hyperkeratotic cutaneous capillary-venous malform., cerebr. cap. Malform.
Hyperlipoproteinemia, type III, 617347
Hyperlipoproteinemia, type Ib, 207750
Hyperlysinemia, OMIM:238700
Hypermanganesemia with dystonia 1, 613280
Hypermanganesemia with dystonia 2, 617013
Hypermethioninemia due to adenosine kinase deficiency, 614300
Hypermethioninemia, persistent, AD, methionine adenosyltransferase I/III def.
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Hyperostosis cranalis interna, 144755
Hyperostosis, endosteal, 144750
Hyperoxaluria, primary, type 1, 259900
Hyperoxaluria, primary, type II, 260000
Hyperoxaluria, primary, type III, 613616
Hyperparathyroidism, neonatal, 239200
Hyperparathyroidism, transient neonatal, 618188
Hyperphenylalaninemia, BH4-deficient, A, 261640
Hyperphenylalaninemia, BH4-deficient, B, 233910
Hyperphenylalaninemia, BH4-deficient, C, 261630
Hyperphenylalaninemia, BH4-deficient, D, 264070
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Hyperphosphatasia with mental retardation syndrome 1, 239300
Hyperphosphatasia with mental retardation syndrome 2, 614749
Hyperphosphatasia with mental retardation syndrome 3, 614207
Hyperphosphatasia with mental retardation syndrome 4, 615716
Hyperprolinemia, type I, OMIM
Hyperprolinemia, type II, 239510
Hypertension and brachydactyly syndrome, 112410
Hyperthyroidism, familial gestational, 603373
Hyperthyroidism, nonautoimmune, 609152
Hypertrichotic osteochondrodysplasia, 239850
Hypertriglyceridemia, transient infantile, 614480
Hypertrophic cardiomyopathy 26, MONDO:0014883
Hypertrophic osteoarthropathy, primary, AR 1
Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Hyperuricemic nephropathy, familial juvenile 1, 162000
Hyperuricemic nephropathy, familial juvenile 2, 613092
Hypoalphalipoproteinemia, primary, 2, +/- corneal clouding
Hypobetalipoproteinemia, 615558
Hypocalcemia, autosomal dominant, 601198
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
Hypocalciuric hypercalcemia, type I, 145980
Hypochondroplasia, 146000
Hypodysfibrinogenemia, 616004
Hypodysfibrinogenemia, congenital, 616004
Hypofibrinogenemia, congenital, 202400
Hypoglycemia of infancy, leucine-sensitive, 240800
Hypogonadotropic hypogonadism 1 with or without anosmia, Kallmann 1
Hypogonadotropic hypogonadism 14 with or without anosmia, 614858
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 3 with or without anosmia, 244200
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370
Hypogonadotropic hypogonadism 6 with or without anosmia, 612702
Hypokalemic periodic paralysis, type 1, 170400
Hypokalemic periodic paralysis, type 2, 613345
Hypomagnesemia 1, intestinal, 602014
Hypomagnesemia 3, renal, 248250
Hypomagnesemia 5, renal, with ocular involvement, 248190
Hypomagnesemia 6, renal, 613882
Hypomagnesemia, seizures, and mental retardation 2, 618314
Hypomagnesemia, seizures, and mental retardation, 616418
Hypomyelinating neuropathy, congenital, 1, 605253
Hypomyelinating neuropathy, congenital, 2, 618184
Hypomyelinating neuropathy, congenital, 3, 618186
Hypomyelination with brainstem and spinal cord involvement, leg spasticity
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Hypoparathyroidism-retardation-dysmorphism syndrome, 241410
Hypophosphatasia, adult, 146300
Hypophosphatasia, childhood, 241510
Hypophosphatasia, infantile, 241500
Hypophosphatemic rickets with hypercalciuria, 241530
Hypophosphatemic rickets, 300554
Hypophosphatemic rickets, AR, 241520
Hypophosphatemic rickets, X-linked dominant, 307800
Hypophosphatemic rickets, autosomal dominant, 193100
Hypophosphatemic rickets, autosomal recessive, 2, 613312
Hypopigmentation, organomegaly, and delayed myelination and development
Hypoplastic left heart syndrome 1, 241550
Hypoplastic left heart syndrome 2, 614435
Hypoplastic or aplastic tibia with polydactyly, 188740
Hypoprothrombinemia, 613679
Hypospadias 1, X-linked, OMIM:300633
Hypothyroidism, central, and testicular enlargement, 300888
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Hypothyroidism, congenital, nongoitrous 1, 275200
Hypothyroidism, congenital, nongoitrous 4, 275100
Hypothyroidism, congenital, nongoitrous 5, 225250
Hypothyroidism, congenital, nongoitrous 6, 614450
Hypotonia, ataxia, and delayed development syndrome OMIM:617330
Hypotonia, ataxia, developmental delay, tooth enamel defect syndrome
Hypotonia, hypoventilation, ID, dysautonomia, epilepsy, anorm.eye
Hypotonia, infantile, psychomotor retardation and characteristic facies 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Hypotonia, infantile, with psychomotor retardation, characteristic facies 1
Hypotrichosis 2, 146520
Hypotrichosis 4, 146550
Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Hystrix-like ichthyosis with deafness, 602540
IDD with cardiac defects and dysmorphic facies, 618316
IDD with dysmorphic facies and behavioral abnormalities, 618089
IDD, dysmorphic facies, speech delay, and T-cell abnormalities
IDD, short stature, facial anomalies, and speech defects, 606220
IFAP syndrome with or without BRESHECK syndrome, 308205
IMAGE syndrome, 614732
IMAGE-I syndrome, 618336
INO80 deficiency
IRAK4 deficiency, 607676
IVIC syndrome, 147750
Ichthyosis prematurity syndrome, 608649
Ichthyosis, X-linked, 308100
Ichthyosis, congenital, autosomal recessive 1, 242300
Ichthyosis, congenital, autosomal recessive 2, 242100
Ichthyosis, congenital, autosomal recessive 3, 606545
Ichthyosis, congenital, autosomal recessive 4A, 601277
Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500
Ichthyosis, congenital, autosomal recessive 5, 604777
Ichthyosis, congenital, autosomal recessive 6, 612281
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Imagawa-Matsumoto syndrome, 618786
Iminoglycinuria, digenic, 242600
Immunodeficiency 10, 612783
Immunodeficiency 11A, 615206
Immunodeficiency 11B with atopic dermatitis, 617638
Immunodeficiency 12, 615468
Immunodeficiency 14, 615513
Immunodeficiency 15A, 618204
Immunodeficiency 15B, 615592
Immunodeficiency 17, CD3 gamma deficient, 615607
Immunodeficiency 18, 615615
Immunodeficiency 18, SCID variant, 615615
Immunodeficiency 19, 615617
Immunodeficiency 20, 615707
Immunodeficiency 21, 614172
Immunodeficiency 23, 615816
Immunodeficiency 24, 615897
Immunodeficiency 25, 610163
Immunodeficiency 26, with or without neurologic abnormalities, 615966
Immunodeficiency 27A, mycobacteriosis, AR, 209950
Immunodeficiency 27B, mycobacteriosis, AD, 615978
Immunodeficiency 28, mycobacteriosis, 614889
Immunodeficiency 29, mycobacteriosis, 614890
Immunodeficiency 30, 614891
Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive
Immunodeficiency 31C, autosomal dominant, 614162
Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
Immunodeficiency 32B, monocyte, dendritic cell deficiency, AR
Immunodeficiency 33, 300636
Immunodeficiency 34, mycobacteriosis, X-linked, 300645
Immunodeficiency 35, 611521
Immunodeficiency 36, 616005
Immunodeficiency 38, 616126
Immunodeficiency 40, 616433
Immunodeficiency 41 with lymphoproliferation, autoimmunity
Immunodeficiency 42, 616622
Immunodeficiency 44, 616636
Immunodeficiency 47, 300972
Immunodeficiency 48, 269840
Immunodeficiency 49, 617237
Immunodeficiency 50, 300988
Immunodeficiency 51, 613953
Immunodeficiency 52, 617514
Immunodeficiency 54, 609981
Immunodeficiency 55, 617827
Immunodeficiency 56, 615207
Immunodeficiency 57, 618108
Immunodeficiency 58, 618131
Immunodeficiency 60, 618394
Immunodeficiency 64, 618534
Immunodeficiency 7, TCR-alpha/beta deficient, 615387
Immunodeficiency 71 with inflammatory disease, cong. thrombocytopenia
Immunodeficiency 8, 615401
Immunodeficiency 9, 612782
Immunodeficiency due to defect in MAPBP-interacting protein, 610798
Immunodeficiency due to ficolin 3 deficiency, 613860
Immunodeficiency due to purine nucleoside phosphorylase deficiency
Immunodeficiency with hyper IgM, type 5, 608106
Immunodeficiency with hyper-IgM, type 2, 605258
Immunodeficiency with hyper-IgM, type 3, 606843
Immunodeficiency, X-linked, with hyper-IgM, 308230
Immunodeficiency, XL, magnesium defect, EBV infection, neoplasia
Immunodeficiency, common variable, 1, 607594
Immunodeficiency, common variable, 10, 615577
Immunodeficiency, common variable, 12, 616576
Immunodeficiency, common variable, 13, 616873
Immunodeficiency, common variable, 2, 240500
Immunodeficiency, common variable, 3, 613493
Immunodeficiency, common variable, 4, 613494
Immunodeficiency, common variable, 5, 613495
Immunodeficiency, common variable, 6, 613496
Immunodeficiency, common variable, 7, 614699
Immunodeficiency, common variable, 8, with autoimmunity, 614700
Immunodeficiency, developmental delay, hypohomocysteinemia
Immunodeficiency, isolated, 300584
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked, 304790
Immunoglobulin A deficiency 2, 609529
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Inclusion body myopathy with early-onset Paget disease, frontotemporal dementia 1
Incontinentia pigmenti, 30830
Increased responsiveness to growth hormone, 604271
Infantile cerebellar-retinal degeneration, 614559
Infantile liver failure syndrome 2, 616483
Infantile neuroaxonal dystrophy 1, 256600
Infections, recurrent, encephalopathy, hepatic dysf., cardiovascular malform.
Inflammatory bowel disease 1, Crohn disease}, OMIM:266600
Inflammatory bowel disease 25, early onset, autosomal recessive
Inflammatory bowel disease 28, early onset, autosomal recessive
Inflammatory bowel disease, immunodeficiency, and encephalopathy
Inosine triphosphatase deficiency, 613850
Insensitivity to pain, congenital, 243000
Insensitivity to pain, congenital, with anhidrosis, 256800
Insomnia, fatal familial, 600072
Insulin-like growth factor I, resistance to, 270450
Intellectual developmental disorder 60 with seizures, 618587
Intellectual developmental disorder 62, 618793
Intellectual developmental disorder and retinitis pigmentosa, 618195
Intellectual developmental disorder with abnormal behavior, microcephaly, short stature
Intellectual developmental disorder with autism and speech delay
Intellectual developmental disorder with cardiac arrhythmia, 617173
Intellectual developmental disorder with dysmorphic facies/ptosis
Intellectual developmental disorder with hypotonia, behavioral abnormalities
Intellectual developmental disorder with seizures and language delay, OMIM:619000
Intellectual developmental disorder+/- epilepsy or cerebellar ataxia, 618060
Intellectual developmental disorder, autosomal dominant 64, OMIM:619188
Intellectual developmental disorder, autosomal recessive 71
Intellectual developmental disorder, dysmorphic facies, seizures, distal limb anomalies
Intellectual developmental disorder, speech + ambulation defects
Intellectual disability
Intellectual disability and iris abnormalities
Intellectual disability with marfanoid features
Intellectual disability with seizures
Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
Intellectual disability, autosomal dominant 42 MONDO:0014855
Intellectual disability, developmental delay
Interleukin 1 receptor antagonist deficiency, OMIM:612852
Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, cong.
Intestinal pseudoobstruction, neuronal, 300048
Intrinsic factor deficiency, 261000
Invasive pneumococcal disease, recurrent isolated, 1, 610799
Invasive pneumococcal disease, recurrent isolated, 2, 300640
Iron-refractory iron deficiency anemia, 206200
Ischiocoxopodopatellar syndrome +/- pulmonary arterial hypertension
Isobutyryl-CoA dehydrogenase deficiency, 611283
Isolated complex IV deficiency
Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200
Isovaleric acidemia, 243500
Jaberi-Elahi syndrome, 617988
Jackson-Weiss syndrome, 123150
Jansen de Vries syndrome, 617450
Jervell and Lange-Nielsen syndrome 2, 612347
Jervell and Lange-Nielsen syndrome, 220400
Johanson-Blizzard syndrome, 243800
Joint laxity, short stature, and myopia, 617662
Joubert syndrome 1, 213300
Joubert syndrome 10, 300804
Joubert syndrome 12, 200990
Joubert syndrome 13, 614173
Joubert syndrome 14, 614424
Joubert syndrome 15, 614464
Joubert syndrome 16, 614465
Joubert syndrome 17, 614615
Joubert syndrome 18, 614815
Joubert syndrome 2, 608091
Joubert syndrome 20, 614970
Joubert syndrome 21, 615636
Joubert syndrome 23, 616490
Joubert syndrome 24, 616654
Joubert syndrome 25, 616781
Joubert syndrome 28, 617121
Joubert syndrome 29, 617562
Joubert syndrome 3, 608629
Joubert syndrome 30, 617622
Joubert syndrome 31, 617761
Joubert syndrome 34, OMIM:614175
Joubert syndrome 4, 609583
Joubert syndrome 5, 610188
Joubert syndrome 6, 610688#
Joubert syndrome 7, 611560
Joubert syndrome 8, 612291
Joubert syndrome 9, 612285
Juvenile polyposis syndrome, infantile form, 174900
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
KBG syndrome, 148050
Kabuki syndrome 1, 147920
Kabuki syndrome 2, 300867
Kahrizi syndrome, 612713
Kanzaki disease, 609242
Kappa light chain deficiency, 614102
Kaufman oculocerebrofacial syndrome, 244450
Kenny-Caffey syndrome, type 1, 244460
Kenny-Caffey syndrome, type 2, 127000
Keppen-Lubinsky syndrome, 614098
Keratitis, 148190
Keratitis-ichthyosis-deafness syndrome, 148210
Keratoderma, palmoplantar, with deafness, 148350
Keratoendothelitis fugax hereditaria, OMIM:148200
Keratosis follicularis spinulosa decalvans, X-linked, 308800
Keratosis palmoplantaris striata II
Keutel syndrome, 245150
King-Denborough syndrome, 145600
Kininogen deficiency, 228960
Kleefstra syndrome 1, 610253
Kleefstra syndrome 2, 617768
Klippel-Feil syndrome 1, autosomal dominant, 118100
Klippel-Feil syndrome 2, 214300
Klippel-Feil syndrome 4, AR, with myopathy and facial dysmorphism
Kniest dysplasia, 156550
Knobloch syndrome, type 1, 267750
Kohlschutter-Tonz syndrome, 226750
Koolen-De Vries syndrome, 610443
Kosaki overgrowth syndrome, 616592
Kowarski syndrome, 262650
Krabbe disease, 245200
Krabbe disease, atypical, 611722
Kufor-Rakeb syndrome, 606693
L-2-hydroxyglutaric aciduria, 236792
L-ferritin deficiency, dominant and recessive, 615604
LADD syndrome, 149730
LCHAD deficiency, 609016
LDL cholesterol level QTL2, 143890
LEBER OPTIC ATROPHY
LEBER OPTIC ATROPHY AND DYSTONIA
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEOPARD syndrome 1, 151100
LEOPARD syndrome 2, 611554
LEOPARD syndrome 3, 613707
LIG4 syndrome, 606593
Lactase deficiency, congenital, 223000
Lacticacidemia due to PDX1 deficiency, 245349
Laing distal myopathy, 160500
Lamb-Shaffer syndrome, 616803
Langer mesomelic dysplasia, 249700
Language delay and ADHD/cognitive impairment +/- cardiac arrhythmia
Laron dwarfism, 262500
Larsen syndrome, 150250
Laryngoonychocutaneous syndrome, 245660
Lateral meningocele syndrome, 130720
Lathosterolosis, 607330
Laurence-Moon syndrome, 245800
Laurin-Sandrow syndrome, 135750
Leber congenital amaurosis 10, 611755
Leber congenital amaurosis 17, 615360
Leber congenital amaurosis 2, 204100
Leber congenital amaurosis 4, 604393
Leber congenital amaurosis 6, 613826
Leber congenital amaurosis 7, 613829
Leber congenital amaurosis 8, 613835
Leber congenital amaurosis 9, 608553
Left ventricular noncompaction 3
Left ventricular noncompaction 4, 613424
Left ventricular noncompaction 5, 613426
Legg-Calve-Perthes disease, 150600
Legius syndrome, 611431
Leigh syndrome due to cytochrome c oxidase deficiency, 256000
Leigh syndrome due to mitochondrial COX4 deficiency, 256000
Leigh syndrome, 256000
Leigh syndrome, French-Canadian type, 220111
Leigh syndrome, due to COX IV deficiency, 256000
Leiomyomatosis and renal cell cancer, 150800
Lenz-Majewski hyperostotic dwarfism, 151050
Leprechaunism, 246200
Leri-Weill dyschondrosteosis, 127300
Lesch-Nyhan syndrome, 300322
Lethal congenital contracture syndrome 1, 253310
Lethal congenital contracture syndrome 11, 617194
Lethal congenital contracture syndrome 4, 614915
Lethal congenital contracture syndrome 5, 615368
Lethal congenital contracture syndrome 7, 616286
Lethal congenital contracture syndrome 9, 616503
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Leukemia, Philadelphia chromosome-positive, resistant to imatinib
Leukemia, acute lymphoblastic, 613065
Leukemia, acute myeloid, 601626
Leukemia, acute myeloid, therapy-related
Leukemia, juvenile myelomonocytic, 607785
Leukemia, myeloid/lymphoid or mixed-lineage, 159555
Leukocyte adhesion deficiency, 116920
Leukocyte adhesion deficiency, type III, 612840
Leukodystrophy, adult-onset, autosomal dominant, 169500
Leukodystrophy, hypomyelinating, 10, 616420
Leukodystrophy, hypomyelinating, 11, 616494
Leukodystrophy, hypomyelinating, 12, 616683
Leukodystrophy, hypomyelinating, 14, 617899
Leukodystrophy, hypomyelinating, 15, 617951
Leukodystrophy, hypomyelinating, 18, 618404
Leukodystrophy, hypomyelinating, 2, 608804
Leukodystrophy, hypomyelinating, 3, 260600
Leukodystrophy, hypomyelinating, 4, 612233
Leukodystrophy, hypomyelinating, 5, 610532
Leukodystrophy, hypomyelinating, 6, 612438
Leukodystrophy, hypomyelinating, 7, +/- oligodontia +/- hypogonadotr. hypogonadism
Leukodystrophy, hypomyelinating, 8, +/- oligodontia +/- hypogonadotr. hypogonadism
Leukodystrophy, hypomyelinating, 9, 616140
Leukoencephalopathy with ataxia, 615651
Leukoencephalopathy with vanishing white matter, 603896
Leukoencephalopathy, brain calcifications, and cysts, 614561
Leukoencephalopathy, brain stem + spinal cord involvement, lactate elevation
Leukoencephalopathy, cystic, without megalencephaly, 612951
Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
Leukoencephalopathy, progressive, with ovarian failure, 615889
Lhermitte-Duclos syndrome, 158350
Li-Fraumeni syndrome, 151623
Liang-Wang syndrome, MONDO:0032886
Liang-Wang syndrome, OMIM:618729
Liddle syndrome 1, 177200
Liddle syndrome 3, 618126;Pseudohypoaldosteronism, type I, 264350
Liebenberg syndrome, 186550
Limb-mammary syndrome, 603543
Linear skin defects with multiple congenital anomalies 1, 309801
Linear skin defects with multiple congenital anomalies 2, 300887
Linear skin defects with multiple congenital anomalies 3
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
Lipodystrophy, congenital generalized, type 2, 269700
Lipodystrophy, congenital generalized, type 4, 613327
Lipodystrophy, familial partial, type 2, 151660
Lipoid adrenal hyperplasia, 201710
Lipoprotein glomerulopathy, 611771
Lipoprotein lipase deficiency, 238600
Lipoyltransferase 1 deficiency, 616299
Lissencephaly 1, 607432
Lissencephaly 2 (Norman-Roberts type), 257320
Lissencephaly 3, 611603
Lissencephaly 4 (with microcephaly), 614019
Lissencephaly 5, 615191
Lissencephaly 6, with microcephaly, OMIM:6162124
Lissencephaly 8, 617255
Lissencephaly 9 with complex brainstem malformation, 618325
Lissencephaly, X-linked 2, 300215
Lissencephaly, X-linked, 300067
Liver failure, transient infantile, 613070
Loeys-Dietz syndrome 1, 609192
Loeys-Dietz syndrome 2, 610168
Loeys-Dietz syndrome 3, 613795
Loeys-Dietz syndrome 4, 614816
Loeys-Dietz syndrome 5, 615582
Long QT syndrome 1, 192500
Long QT syndrome 5, 613695;
Long QT syndrome 8, 618447
Long QT syndrome 9, 611818
Lopes-Maciel-Rodan syndrome, 617435
Lowe syndrome, 309000
Lower urinary tract obstruction, congenital, 618612
Lujan-Fryns syndrome, 309520
Lung disease, immunodeficiency, and chromosome breakage syndr.
Luscan-Lumish syndrome, 616831
Lymphangioleiomyomatosis, 606690
Lymphatic malformation 1, 153100
Lymphatic malformation 3, 613480
Lymphatic malformation 6, 616843
Lymphatic malformation 7, 617300
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
Lymphedema-distichiasis syndrome, 153400
Lymphoma, non-Hodgkin, 605027
Lymphoproliferative syndrome 1, 613011
Lymphoproliferative syndrome 2, 615122
Lymphoproliferative syndrome 3, 618261
Lymphoproliferative syndrome, X-linked, 1, 308240
Lymphoproliferative syndrome, X-linked, 2, 300635
Lysinuric protein intolerance, 222700
MASA syndrome, 303350
MASP2 deficiency, 613791
MASS syndrome, 604308
MEDNIK syndrome, 609313
MEHMO syndrome, 300148
MELAS
MELAS SYNDROME
MEND syndrome, 300960
MERFF SYNDROME
MERRF/MELAS OVERLAP SYNDROME
MHC class II deficiency, complementation group B, 209920
MIRAGE syndrome, 617053
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL MYOPATHY
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, ISOLATED
MODY, type I, 125850
MODY, type II, 125851
MPI-CDG, MONDO:0011257
MT NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
MULTISYSTEM DISORDER
MYH10-related Multiple congenital anomalies
MYOGLOBINURIA, RECURRENT
MYOPATHY, MITOCHONDRIAL
MYOPATHY, MITOCHONDRIAL, LATE-ONSET
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
MYOTONIC DYSTROPHY-LIKE MYOPATHY
Machado-Joseph disease, 109150
Macrocephaly
Macrocephaly/autism syndrome, 605309
Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112
Macrothrombocytopenia, granulocyte inclusions +/- nephritis, sensorineural defn.
Macular corneal dystrophy, 217800
Macular degeneration, X-linked atrophic, 300834
Macular degeneration, age-related, 3, 608895
Macular degeneration, early-onset, 616118
Macular degeneration, juvenile, 248200
Macular dystrophy with central cone involvement, 616170
Majeed syndrome, OMIM:609628
Malonyl-CoA decarboxylase deficiency, 248360
Malouf syndrome, 212112
Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndr.
Mandibuloacral dysplasia with type B lipodystrophy, 608612;
Mandibuloacral dysplasia, 248370
Mandibulofacial dysostosis with alopecia, 616367
Mandibulofacial dysostosis, Guion-Almeida type, 610536
Manitoba oculotrichoanal syndrome, 248450
Mannosidosis, alpha-, types I and II, 248500
Mannosidosis, beta, 248510
Maple syrup urine disease, type II, 248600
Maple syrup urine disease, type Ia, 248600
Maple syrup urine disease, type Ib, 248600
Marden-Walker syndrome, 248700
Marfan lipodystrophy syndrome, 616914
Marfan syndrome, 154700
Marinesco-Sjogren syndrome, 248800
Maroteaux type, 184095
Marshall syndrome, 154780
Marshall-Smith syndrome, 602535
Martsolf syndrome, 212720
Mast syndrome, 248900
Mastocytosis, cutaneous, 154800
Maturity-onset diabetes of the young, type 13, 616329
McArdle disease, 232600
McKusick-Kaufman syndrome, 236700
Meacham syndrome, 608978
Meckel syndrome 1, 249000
Meckel syndrome 10, OMIM:614175
Meckel syndrome 11, 615397
Meckel syndrome 12, 616258
Meckel syndrome 13, 617562
Meckel syndrome 2, 603194
Meckel syndrome 3, 607361
Meckel syndrome 4, 611134
Meckel syndrome 5, 611561
Meckel syndrome 6, 612284
Meckel syndrome 7, 267010
Meckel syndrome 8, 613885
Meckel-Gruber syndrome;MGS
Meconium ileus, 614665
Medullary cystic kidney disease 1, 174000
Medullary cystic kidney disease 2, 603860
Medullary thyroid carcinoma, familial, 155240
Meester-Loeys syndrome, 300989
Mega-corpus-callosum syndrome, cerebellar hypoplasia, cortical malformations
Megalencephalic leukoencephalop., subcort. cysts 2B, remitting, +/-MR
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts, 604004
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Megaloblastic anemia-1, Finnish type, 261100
Megaloblastic anemia-1, Norwegian type, 261100
Megalocornea 1, X-linked, 309300
Meier-Gorlin syndrome 1, 224690
Meier-Gorlin syndrome 2, 613800
Meier-Gorlin syndrome 3, 613803
Meier-Gorlin syndrome 4, 613804
Meier-Gorlin syndrome 6, 616835
Meier-Gorlin syndrome 7, 617063
Melnick-Needles syndrome, 309350
Meningioma, SIS-related, 607174
Menke-Hennekam syndrome 1, 618332
Menke-Hennekam syndrome 2, 618333
Menkes disease, 309400
Ment. Ret., XL 3, methylmalonic acidemia, homocysteine., cblX type
Mental retardation and distinctive facial features +/- cardiac defects
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Mental retardation syndrome, X-linked, Siderius type, 300263
Mental retardation with language impairment and with or without autistic features
Mental retardation, X-linked 1/78, 309530
Mental retardation, X-linked 102, 300958
Mental retardation, X-linked 104, 300983
Mental retardation, X-linked 106, 300997
Mental retardation, X-linked 12/35, 300957
Mental retardation, X-linked 19, 300844
Mental retardation, X-linked 21/34, 300143
Mental retardation, X-linked 29 and others, 300419
Mental retardation, X-linked 30/47, 300558
Mental retardation, X-linked 41, 300849
Mental retardation, X-linked 58, 300210
Mental retardation, X-linked 63, 300387
Mental retardation, X-linked 72, 300271
Mental retardation, X-linked 9/44, 309549
Mental retardation, X-linked 90, 300850
Mental retardation, X-linked 93, 300659
Mental retardation, X-linked 94, 300699
Mental retardation, X-linked 96, 300802
Mental retardation, X-linked 97, 300803
Mental retardation, X-linked 98, 300912
Mental retardation, X-linked 99, 300919
Mental retardation, X-linked 99, syndromic, female-restricted, 300968
Mental retardation, X-linked syndromic 16, 305400
Mental retardation, X-linked syndromic 5, 304340
Mental retardation, X-linked syndromic, Christianson type, 300243
Mental retardation, X-linked syndromic, Lubs type, 300260
Mental retardation, X-linked syndromic, Nascimento-type, 300860
Mental retardation, X-linked syndromic, Raymond type, 300799
Mental retardation, X-linked syndromic, Turner type, 309590
Mental retardation, X-linked, FRAXE type, 309548
Mental retardation, X-linked, Snyder-Robinson type, 309583
Mental retardation, X-linked, syndromic 13, 300055
Mental retardation, X-linked, syndromic 14, 300676
Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
Mental retardation, X-linked, syndromic 33, 300966
Mental retardation, X-linked, syndromic 34, 300967
Mental retardation, X-linked, syndromic, 35, 300998
Mental retardation, X-linked, syndromic, 36, 301032
Mental retardation, X-linked, syndromic, Bain type, 300986
Mental retardation, X-linked, syndromic, Claes-Jensen type
Mental retardation, X-linked, syndromic, Hedera type, 300423
Mental retardation, X-linked, syndromic, Houge type, 301008
Mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance
Mental retardation, X-linked, with isolated growth hormone deficiency
Mental retardation, autosomal dominant 1, 156200
Mental retardation, autosomal dominant 13, 614563
Mental retardation, autosomal dominant 18, 615074
Mental retardation, autosomal dominant 21, 615502
Mental retardation, autosomal dominant 22, 612337
Mental retardation, autosomal dominant 23, 615761
Mental retardation, autosomal dominant 24, 615828
Mental retardation, autosomal dominant 26, 615834
Mental retardation, autosomal dominant 29, 616078
Mental retardation, autosomal dominant 3, 612580
Mental retardation, autosomal dominant 30, 616083
Mental retardation, autosomal dominant 31, 616158
Mental retardation, autosomal dominant 32, 616268
Mental retardation, autosomal dominant 33, 616311
Mental retardation, autosomal dominant 34, 616351
Mental retardation, autosomal dominant 35, 616355
Mental retardation, autosomal dominant 36, 616362
Mental retardation, autosomal dominant 38, 616393
Mental retardation, autosomal dominant 39, 616521
Mental retardation, autosomal dominant 40, 616579
Mental retardation, autosomal dominant 41, 616944
Mental retardation, autosomal dominant 42 OMIM:616973
Mental retardation, autosomal dominant 43, 616977
Mental retardation, autosomal dominant 44, 617061
Mental retardation, autosomal dominant 45, 617600
Mental retardation, autosomal dominant 46, 617601
Mental retardation, autosomal dominant 47, 617635
Mental retardation, autosomal dominant 48, 617751
Mental retardation, autosomal dominant 49, 617752
Mental retardation, autosomal dominant 5, 612621
Mental retardation, autosomal dominant 50, 617787
Mental retardation, autosomal dominant 51, 617788
Mental retardation, autosomal dominant 52, 617796
Mental retardation, autosomal dominant 53, 617798
Mental retardation, autosomal dominant 54, 617799
Mental retardation, autosomal dominant 55, with seizures, 617831
Mental retardation, autosomal dominant 56, 617854
Mental retardation, autosomal dominant 57, OMIM:618050
Mental retardation, autosomal dominant 58, 618106
Mental retardation, autosomal dominant 6, 613970
Mental retardation, autosomal dominant 7, 614104
Mental retardation, autosomal dominant 9, 614255
Mental retardation, autosomal recessive 1, 249500
Mental retardation, autosomal recessive 12, 611090
Mental retardation, autosomal recessive 13, 613192
Mental retardation, autosomal recessive 15, 614202
Mental retardation, autosomal recessive 18, 614249
Mental retardation, autosomal recessive 27, 614340
Mental retardation, autosomal recessive 3, 608443
Mental retardation, autosomal recessive 34, with variant lissencephaly
Mental retardation, autosomal recessive 36, 615286
Mental retardation, autosomal recessive 39, 615541
Mental retardation, autosomal recessive 41, 615637
Mental retardation, autosomal recessive 42, 615802
Mental retardation, autosomal recessive 44, 615942
Mental retardation, autosomal recessive 46, 616116
Mental retardation, autosomal recessive 47, 616193
Mental retardation, autosomal recessive 48, 616269
Mental retardation, autosomal recessive 49, 616281
Mental retardation, autosomal recessive 5, 611091
Mental retardation, autosomal recessive 53, 616917
Mental retardation, autosomal recessive 55, 617051
Mental retardation, autosomal recessive 57, 617188
Mental retardation, autosomal recessive 58, 617270
Mental retardation, autosomal recessive 6, 611092
Mental retardation, autosomal recessive 65, 618109
Mental retardation, autosomal recessive 66, 618221
Mental retardation, autosomal recessive 67, 618295
Mental retardation, autosomal recessive 68, 618302
Mental retardation, autosomal recessive 7, 611093
Mental retardation, stereotypic mov., epilepsy, +/- cerebral malformations
Mental retardation, truncal obesity, retinal dystrophy, micropenis
Mental retardation, with or without nystagmus, 300422
Mental retardation-hypotonic facies syndrome, X-linked, 309580
Metabolic crises recurrent, variable encephalomyopathic features, neurologic regression
Metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmias, neurodegeneration
Metacarpal 4-5 fusion, 309630
Metachondromatosis, 156250
Metachromatic leukodystrophy due to SAP-b deficiency, 249900
Metachromatic leukodystrophy, 250100
Metaphyseal anadysplasia 1, 602111
Metaphyseal chondrodysplasia, Murk Jansen type, 156400
Metaphyseal chondrodysplasia, Schmid type, 156500
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Metaphyseal dysplasia without hypotrichosis, 250460
Metaphyseal dysplasia, Spahr type, 250400
Metatropic dysplasia, 156530
Methemoglobinemia, alpha type, 617973
Methemoglobinemia, type I, 250800
Methemoglobinemia, type II, 250800
Methionine adenosyltransferase deficiency, autosomal recessive
Methmoglobinemia, beta type, 617971;Heinz body anemia, 140700
Methylmalonate semialdehyde dehydrogenase deficiency, 614105
Methylmalonic aciduria and homocystinuria, cblC type, 277400
Methylmalonic aciduria and homocystinuria, cblD type, 277410
Methylmalonic aciduria and homocystinuria, cblF type, 277380
Methylmalonic aciduria and homocystinuria, cblJ type, 614857
Methylmalonic aciduria, cblD type, variant 2, 277410
Methylmalonic aciduria, mut(0) type, 251000
Methylmalonic aciduria, vit. B12-responsive, defect in cblB complementation type
Methylmalonic aciduria, vitamin B12-responsive, 251100
Methylmalonyl-CoA epimerase deficiency, 251120
Mevalonic aciduria, OMIM:610377
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Microcephalic osteodysplastic primordial dwarfism, type I, 210710
Microcephalic osteodysplastic primordial dwarfism, type II
Microcephaly +/- chorioretinopathy, lymphedema, mental retardation
Microcephaly 1, primary, autosomal recessive, 251200
Microcephaly 17, primary, autosomal recessive, 617090
Microcephaly 2, primary, AR, with or without cortical malformations, 604317
Microcephaly 20, primary, autosomal recessive, MONDO:0054761
Microcephaly 20, primary, autosomal recessive, OMIM:617914
Microcephaly 3, primary, autosomal recessive, 604804
Microcephaly 4, primary, autosomal recessive, OMIM:604321
Microcephaly 5, primary, autosomal recessive, 608716
Microcephaly 6, primary, autosomal recessive, 608393
Microcephaly 7, primary, autosomal recessive, 612703
Microcephaly 8, primary, autosomal recessive, 614673
Microcephaly 9, primary, autosomal recessive, 614852
Microcephaly Developmental Delay and Brittle Hair and Nail
Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270
Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Microcephaly, Amish type
Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
Microcephaly, developmental delay, and brittle hair syndrome
Microcephaly, epilepsy, and diabetes syndrome, 614231
Microcephaly, growth deficiency, seizures + brain malformations, 618346
Microcephaly, growth restriction, and increased sister chromatid exchange 2
Microcephaly, postnatal progressive, with seizures and brain atrophy
Microcephaly, progressive, seizures, cerebral and cerebellar atrophy, 615760
Microcephaly, seizures, and developmental delay, 613402
Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Microcephaly, short stature, and impaired glucose metabolism 2, 616817
Microcephaly, short stature, and limb abnormalities, 617604
Microcephaly, short stature, and polymicrogyria with seizures, 614833
Microcephaly-capillary malformation syndrome, 614261
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Microcephaly-micromelia syndrome, 251230
Microhydranencephaly, 605013
Microphthalmia with coloboma 3, 610092
Microphthalmia with coloboma 5, 611638
Microphthalmia with coloboma 6, digenic, 613703
Microphthalmia with limb anomalies, 206920
Microphthalmia, isolated 2, 610093
Microphthalmia, isolated 3, 611038
Microphthalmia, isolated 4, 613094
Microphthalmia, isolated 5, 611040
Microphthalmia, isolated 6, 613517
Microphthalmia, isolated 8, 615113
Microphthalmia, isolated, with coloboma 8, 601186
Microphthalmia, isolated, with coloboma 9, OMIM:615145
Microphthalmia, syndromic 1, 309800
Microphthalmia, syndromic 12, 615524
Microphthalmia, syndromic 15, OMIM:615145
Microphthalmia, syndromic 2, 300166
Microphthalmia, syndromic 3, 206900
Microphthalmia, syndromic 5, 610125
Microphthalmia, syndromic 6, 607932
Microphthalmia, syndromic 9, 601186
Microphthalmia/coloboma and skeletal dysplasia syndrome
Microspherophakia/megalocornea, ectopia lentis +/- secondary glaucoma
Microvillus inclusion disease, 251850
Midface hypoplasia, hearing impairment, elliptocytosis, nephrocalcinosis
Migraine, familial basilar, 602481
Migraine, familial hemiplegic, 1, 141500
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
Migraine, familial hemiplegic, 2, 602481
Migraine, familial hemiplegic, 3, 609634
Miller syndrome, 263750
Minicore myopathy with external ophthalmoplegia, 255320
Mirror movements 1 and/or agenesis of the corpus callosum, 157600
Mismatch repair cancer syndrome, 276300
Mitchell-Riley syndrome, 615710
Mitochondrial CYTOCHROME c OXIDASE DEFICIENCY
Mitochondrial complex I deficiency, nuclear type 1, 252010
Mitochondrial complex I deficiency, nuclear type 10, 618233
Mitochondrial complex I deficiency, nuclear type 11, 618234
Mitochondrial complex I deficiency, nuclear type 12, 301020
Mitochondrial complex I deficiency, nuclear type 14, 618236
Mitochondrial complex I deficiency, nuclear type 15, 618237
Mitochondrial complex I deficiency, nuclear type 16, 618238
Mitochondrial complex I deficiency, nuclear type 17, 618239
Mitochondrial complex I deficiency, nuclear type 18, 618240
Mitochondrial complex I deficiency, nuclear type 19, 618241
Mitochondrial complex I deficiency, nuclear type 2, 618222
Mitochondrial complex I deficiency, nuclear type 20, 611126
Mitochondrial complex I deficiency, nuclear type 21, 618242
Mitochondrial complex I deficiency, nuclear type 22, 618243
Mitochondrial complex I deficiency, nuclear type 25, 618246
Mitochondrial complex I deficiency, nuclear type 26, 618247
Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248
Mitochondrial complex I deficiency, nuclear type 29, 618250
Mitochondrial complex I deficiency, nuclear type 3, 618224
Mitochondrial complex I deficiency, nuclear type 30, 301021
Mitochondrial complex I deficiency, nuclear type 32, 618252
Mitochondrial complex I deficiency, nuclear type 33, 618253
Mitochondrial complex I deficiency, nuclear type 4, 618225
Mitochondrial complex I deficiency, nuclear type 5, 618226
Mitochondrial complex I deficiency, nuclear type 6, 618228
Mitochondrial complex I deficiency, nuclear type 7, 618229
Mitochondrial complex I deficiency, nuclear type 8, 618230
Mitochondrial complex I deficiency, nuclear type 9, 618232
Mitochondrial complex II deficiency, 252011
Mitochondrial complex III deficiency, nuclear type 1, 124000
Mitochondrial complex III deficiency, nuclear type 2, 615157
Mitochondrial complex III deficiency, nuclear type 3, 615158
Mitochondrial complex III deficiency, nuclear type 6, 615453
Mitochondrial complex III deficiency, nuclear type 7, 615824
Mitochondrial complex III deficiency, nuclear type 8, 615838
Mitochondrial complex IV deficiency, 220110
Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Mitochondrial complex V (ATP synthase) deficiency, 618120
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Mitochondrial myopathy, episodic, optic atrophy, reversible leukoencephalopathy
Mitochondrial phosphate carrier deficiency, 610773
Mitochondrial pyruvate carrier deficiency, 614741
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
Mitochondrial respiratory chain complex II deficiency, 252011
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277
Mitral valve prolapse 2, 607829
Miyoshi muscular dystrophy 1, 254130
Miyoshi muscular dystrophy 3, 613319
Mohr-Tranebjaerg syndrome, 304700
Molybdenum cofactor deficiency A, 252150
Molybdenum cofactor deficiency B, 252160
Molybdenum cofactor deficiency C, 615501
Monocarboxylate transporter 1 deficiency, 616095
Mononeuropathy of the median nerve, mild, 613353
Morning glory disc anomaly, 120430
Mosaic variegated aneuploidy syndrome 1, 257300
Mosaic variegated aneuploidy syndrome 2, 614114
Mowat-Wilson syndrome, 235730
Moyamoya disease 5, 614042
Mt DNA depletion syndrome 1 (MNGIE type), 603041
Mt DNA depletion syndrome 13, encephalomyopathic type
MtDNA depletion syndrome 11, 615084
MtDNA depletion syndrome 12A (cardiomyopathic type) AD, 617184
MtDNA depletion syndrome 12B (cardiomyopathic type) AR
MtDNA depletion syndrome 14, encephalocardiomyopathic type
MtDNA depletion syndrome 16 (hepatic type), 618528
MtDNA depletion syndrome 2 (myopathic type), 609560
MtDNA depletion syndrome 3 (hepatocerebral type), 251880
MtDNA depletion syndrome 4A (Alpers type)
MtDNA depletion syndrome 4B (MNGIE type), 613662
MtDNA depletion syndrome 5, encephalomyopathic +/- methylmalonic aciduria
MtDNA depletion syndrome 6 (hepatocerebral type), 256810
MtDNA depletion syndrome 7 (hepatocerebral type), 271245
MtDNA depletion syndrome 8A, encephalomyopathic + renal tubulopathy
MtDNA depletion syndrome 8B (MNGIE type), 612075
MtDNA depletion syndrome 9 encephalomyopathic with methylmalonic aciduria
Muckle-Wells syndrome, OMIM:191900
Mucolipidosis II alpha/beta, 252500
Mucolipidosis III alpha/beta, 252600
Mucolipidosis III gamma, 252605
Mucolipidosis IV, 252650
Mucopolysaccharidosis II, 309900
Mucopolysaccharidosis IVA, 253000
Mucopolysaccharidosis Ih, 607014
Mucopolysaccharidosis Ih/s, 607015
Mucopolysaccharidosis Is, 607016
Mucopolysaccharidosis VII, 253220
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
Mucopolysaccharidosis type IIID, 252940
Mucopolysaccharidosis type IVB (Morquio), 253010
Mucopolysaccharidosis type VI, Maroteaux-Lamy, 253200
Muenke syndrome, 602849
Mulibrey nanism, 253250
Mullegama-Klein-Martinez syndrome, 301022
Multicentric carpotarsal osteolysis syndrome, 166300
Multicentric osteolysis, nodulosis, and arthropathy, 259600
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple joint disloc., short stature, craniofacial dysmorph., +/- cong. heart defects
Multiple mitochondrial dysfunctions syndrome 1, 605711
Multiple mitochondrial dysfunctions syndrome 2, hyperglycinemia
Multiple mitochondrial dysfunctions syndrome 3, 615330
Multiple mitochondrial dysfunctions syndrome 4, 616370
Multiple mitochondrial dysfunctions syndrome 5, 617613
Multiple mitochondrial dysfunctions syndrome 6, 617954
Multiple pterygium syndrome, lethal type, 253290
Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Multiple sulfatase deficiency, 272200
Multiple synostoses syndrome 1, 186500
Multiple synostoses syndrome 2, 610017
Multiple synostoses syndrome 4, 617898
Multisystemic smooth muscle dysfunction syndrome, 613834
Mungan syndrome, 611376
Muscle glycogenosis, 300559
Muscular dystrophy, congenital, 613205
Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066
Muscular dystrophy, congenital, cataracts, intellectual disability
Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
Muscular dystrophy, congenital, megaconial type, 602541
Muscular dystrophy, congenital, merosin deficient or partially deficient
Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511
Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129
Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807
Muscular dystrophy, limb-girdle, autosomal recessive 12
Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723
Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138
Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099
Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286
Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700
Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954
Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110
Muscular dystrophy, rigid spine, 1, 602771
Muscular dystrophy-dystroglycanopathy, cong. +/- mental retardation, type B, 5
Muscular dystrophy-dystroglycanopathy, cong. with brai/eye anomalies), type A, 12
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 1
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 10
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 11
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 13
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 14
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 3
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 4
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 5
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 6
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 7
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 8
Muscular dystrophy-dystroglycanopathy, cong. with brain/eye anomalies, type A, 9
Muscular dystrophy-dystroglycanopathy, cong. with mental retardation), type B, 6
Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1
Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14
Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 2
Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 3
Muscular dystrophy-dystroglycanopathy, cong., - mental retardation, type B, 4
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1, 609308
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 12, 616094
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14, 615352
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15, 612937
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 2, 613158
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3, 613157
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4, 611588
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5, 607155
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7, 616052
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 8, 618135
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9, 613818
Myasthenia, congenital, 12, with tubular aggregates, 610542
Myasthenic syndrome, cong., 11, ass. with acetylcholine receptor deficiency
Myasthenic syndrome, cong., 2C, ass. + acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 10, 254300
Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
Myasthenic syndrome, congenital, 16, 614198
Myasthenic syndrome, congenital, 17, 616304
Myasthenic syndrome, congenital, 19, 616720
Myasthenic syndrome, congenital, 1A, slow-channel, 601462
Myasthenic syndrome, congenital, 1B, fast-channel, 608930
Myasthenic syndrome, congenital, 20, presynaptic, 617143
Myasthenic syndrome, congenital, 21, presynaptic, 617239
Myasthenic syndrome, congenital, 23, presynaptic, 618197
Myasthenic syndrome, congenital, 25, 618323
Myasthenic syndrome, congenital, 2A, slow-channel, 616313
Myasthenic syndrome, congenital, 3A, slow-channel, 616321
Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Myasthenic syndrome, congenital, 3C, ass. + acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Myasthenic syndrome, congenital, 4B, fast-channel, 616324
Myasthenic syndrome, congenital, 4C, ass.+ acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 5, 603034
Myasthenic syndrome, congenital, 6, presynaptic, 254210
Myasthenic syndrome, congenital, 8, with pre-/postsynaptic defects
Myasthenic syndrome, congenital, 9, ass. acetylcholine receptor deficiency
Myelokathexis, isolated
Myeloperoxidase deficiency, 254600
Myeloproliferative disorder with eosinophilia, 131440
Myhre syndrome, 139210
Myoclonic epilepsy, infantile, familial, 605021
Myoclonic epilepsy, juvenile, susceptibility to, 1, 254770
Myoclonic-atonic epilepsy, 616421
Myoclonus, familial, 2, 618364
Myoclonus, intractable, neonatal, 617235
Myofibromatosis, infantile 2, 615293
Myofibromatosis, infantile, 1, 228550
Myoglobinuria, acute recurrent, autosomal recessive, 268200
Myopathy with extrapyramidal signs, 615673
Myopathy with lactic acidosis, hereditary, 255125
Myopathy, X-linked, with excessive autophagy, 310440
Myopathy, X-linked, with postural muscle atrophy, 300696
Myopathy, actin, congenital, with cores, 161800
Myopathy, actin, congenital, with excess of thin myofilaments
Myopathy, areflexia, respiratory distress, dysphagia, early-onset
Myopathy, areflexia, respiratory distress, dysphagia, early-onset, mild variant
Myopathy, centronuclear, 6, with fiber-type disproportion
Myopathy, congenital, Baily-Bloch, 255995
Myopathy, congenital, with fast-twitch (type II) fiber atrophy
Myopathy, congenital, with fiber-type disproportion 1, 255310
Myopathy, congenital, with tremor, 618524
Myopathy, distal, 4, OMIM:614065
Myopathy, distal, Tateyama type, 614321
Myopathy, distal, with anterior tibial onset, 606768
Myopathy, distal, with rimmed vacuoles, 617158
Myopathy, isolated mitochondrial, autosomal dominant, 616209
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Myopathy, mitochondrial progr., cong. cataract, hearing loss, developmental delay
Myopathy, mitochondrial, and ataxia, 617675
Myopathy, myofibrillar, 1, 601419
Myopathy, myofibrillar, 2, 608810
Myopathy, myofibrillar, 3, 609200
Myopathy, myofibrillar, 4, 609452
Myopathy, myofibrillar, 5, OMIM:609524
Myopathy, myofibrillar, 6, 612954
Myopathy, myofibrillar, 9, with early respiratory failure, 603689
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
Myopathy, myosin storage, autosomal dominant, 608358
Myopathy, myosin storage, autosomal recessive, 255160
Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Myopathy, spheroid body, 182920
Myopathy, tubular aggregate, 2, 615883
Myopathy, vacuolar, with CASQ1 aggregates, 616231
Myopia 6, 608908
Myosclerosis, congenital, 255600
Myotonia congenita, atypical, acetazolamide-responsive, 608390
Myotonic dystrophy 1, OMIM:160900
Myotonic dystrophy 2, OMIM:602668
Myotubular myopathy, X-linked, 310400
Myxoma, intracardiac, 255960
N-acetylglutamate synthase deficiency, 237310
NEONATAL DEATH
NEPHROPATHY, TUBULOINTERSTITIAL
NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL
Naegeli-Franceschetti-Jadassohn syndrome, 161000
Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157
Nail-patella syndrome, 161200
Nance-Horan syndrome, 302350
Nanophthalmos 2, 609549
Narp syndrome
Naxos disease, 601214
Nemaline myopathy 1, AD/AR, 609284
Nemaline myopathy 10, 616165
Nemaline myopathy 2, autosomal recessive, 256030
Nemaline myopathy 3, autosomal dominant or recessive, 161800
Nemaline myopathy 4, autosomal dominant, 609285
Nemaline myopathy 5, Amish type, 605355
Nemaline myopathy 6, autosomal dominant, 609273
Nemaline myopathy 7, autosomal recessive, 610687
Nemaline myopathy 8, autosomal recessive, 615348
Nemaline myopathy 9, 615731
Nephrogenic syndrome of inappropriate antidiuresis, 300539
Nephrolithiasis, type I, 310468
Nephronophthisis 1, juvenile, 256100
Nephronophthisis 11, 613550;?RHYNS syndrome, 602152;COACH syndrome, 216360
Nephronophthisis 12, 613820
Nephronophthisis 13, 614377
Nephronophthisis 15, 614845
Nephronophthisis 16, 615382
Nephronophthisis 18, 615862
Nephronophthisis 19, 616217
Nephronophthisis 2, infantile, 602088
Nephronophthisis 20, 617271
Nephronophthisis 3, 604387
Nephronophthisis 4, 606966
Nephronophthisis 9, 613824
Nephropathy due to CFHR5 deficiency, 614809
Nephrotic syndrome
Nephrotic syndrome, type 1, 256300
Nephrotic syndrome, type 11, 616730
Nephrotic syndrome, type 12, 616892
Nephrotic syndrome, type 14, 617575
Nephrotic syndrome, type 15, 617609
Nephrotic syndrome, type 2, 600995
Nephrotic syndrome, type 3, 610725
Nephrotic syndrome, type 4, 256370
Nephrotic syndrome, type 5, with or without ocular abnormalities
Nephrotic syndrome, type 7, 615008
Nephrotic syndrome, type 8, 615244
Nephrotic syndrome, type 9, 615573
Netherton syndrome, 256500
Neu-Laxova syndrome 1, 256520
Neu-Laxova syndrome 2, 616038
Neuroblastoma with Hirschsprung disease, 613013
Neurodegeneration due to cerebral folate transport deficiency, 613068
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Neurodegeneration with brain iron accumulation 1, 234200
Neurodegeneration with brain iron accumulation 2B, 610217
Neurodegeneration with brain iron accumulation 3, 606159
Neurodegeneration with brain iron accumulation 4, 614298
Neurodegeneration with brain iron accumulation 5, 300894
Neurodegeneration with brain iron accumulation 6, 615643
Neurodegeneration, childhood-onset, stress-ind., var. ataxia/seizures
Neurodegeneration, childhood-onset, with brain atrophy, 617672
Neurodevelopmental dis., epilepsy, cataracts, feeding diff., del. brain myelination
Neurodevelopmental disorder +/- anomalies of the brain, eye/heart
Neurodevelopmental disorder +/- hyperkinetic movements, seizures, AD
Neurodevelopmental disorder +/- seizures, gait abnormalities, 617864
Neurodevelopmental disorder +/- variable brain abnormalities
Neurodevelopmental disorder and language delay, structural brain abnormalities
Neurodevelopmental disorder and structural brain anomalies +/- seizures, spasticity
Neurodevelopmental disorder with cataracts, poor growth, dysm. face
Neurodevelopmental disorder with central, peripheral motor dysfunction
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Neurodevelopmental disorder with epilepsy. hypoplasia of the corpus callosum
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519
Neurodevelopmental disorder with impaired ID, hypotonia, ataxia
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
Neurodevelopmental disorder with involuntary movements, 617493
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Neurodevelopmental disorder with poor language and loss of hand skills
Neurodevelopmental disorder with spastic diplegia and visual defects
Neurodevelopmental disorder with spasticity and poor growth, 618076
Neurodevelopmental disorder with structural brain anomalies, dysmorphic facies
Neurodevelopmental disorder with visual defects and brain anomalies, 618547
Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter
Neurodevelopmental disorder, cerebellar atrophy, +/- seizures
Neurodevelopmental disorder, dysmorphic facies, distal limb anomalies
Neurodevelopmental disorder, hypotonia, impaired speech, behavioral abnormalities
Neurodevelopmental disorder, hypotonia, seizures, absent language
Neurodevelopmental disorder, hypotonia, variable intellectual, behavioral abnormalities
Neurodevelopmental disorder, language impairment, behavioral abnormalities
Neurodevelopmental disorder, microcephaly, hypotonia, variable brain anomalies
Neurodevelopmental disorder, mitoch., abn. movements lactic acidosis, seizures
Neurodevelopmental disorder, movement abnormalities, abnormal gait, autistism
Neurodevelopmental disorder, progressive microcephaly, spasticity, brain abnormalities
Neurodevelopmental disorder, regr., abn. movements, no speech, seizures
Neurodevelopmental disorder, seizures, nonepileptic hyperkinetic movements
Neurodevelopmental disorder, seizures, speech + walking impairment
Neurodevelopmental disorder, severe motor impairment, absent language
Neurodevelopmental disorder, spastic quadriplegia, brain abnormalities + seizures
Neurofibromatosis, familial spinal, 162210
Neurofibromatosis, type 1, 162200
Neurofibromatosis, type 2, 101000
Neurofibromatosis-Noonan syndrome, 601321
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
Neuromyotonia and axonal neuropathy, autosomal recessive
Neuronal ceroid lipofuscinosis 5 MONDO:0009745
Neuronopathy, distal hereditary motor, type VB, 614751
Neuronopathy, distal hereditary motor, type VI, 604320
Neuronopathy, distal hereditary motor, type VIIA, 158580
Neurooculocardiogenitourinary syndrome, 618652
Neuropathy, distal hereditary motor, type IIA, 158590
Neuropathy, distal hereditary motor, type IIB, 608634
Neuropathy, distal hereditary motor, type VA, 600794
Neuropathy, distal hereditary motor, type VIIB, 607641
Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, type VIB, 616505
Neuropathy, hereditary sensory and autonomic, type IA, 162400
Neuropathy, hereditary sensory and autonomic, type IC, 613640
Neuropathy, hereditary sensory and autonomic, type IIB, 613115
Neuropathy, hereditary sensory and autonomic, type VII, 615548
Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Neuropathy, hereditary sensory, type ID, 613708
Neuropathy, hereditary sensory, type IE, 614116
Neuropathy, hereditary sensory, type IIC, 614213
Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Neuropathy, hereditary, +/- age-related macular degeneration
Neuropathy, inflammatory demyelinating, 139393
Neuropathy, recurrent, with pressure palsies, 162500
Neutropenia, alloimmune neonatal
Neutropenia, cyclic, 162800
Neutropenia, severe congenital 1, autosomal dominant, 202700
Neutropenia, severe congenital 3, autosomal recessive
Neutropenia, severe congenital 4, autosomal recessive, 612541
Neutropenia, severe congenital, 5, autosomal recessive, 615285
Neutropenia, severe congenital, 6, autosomal recessive, 616022
Neutropenia, severe congenital, 7, autosomal recessive, 617014
Neutropenia, severe congenital, X-linked, 300299
Neutrophil immunodeficiency syndrome, 608203
Nicolaides-Baraitser syndrome, 601358
Niemann-Pick disease, type A, 257200
Niemann-Pick disease, type B, 607616
Niemann-Pick disease, type C1, 257220
Niemann-Pick disease, type D, 257220
Niemann-pick disease, type C2, 607625
Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Night blindness, congenital stationary (complete), 1B, AR
Night blindness, congenital stationary (complete), 1C, AR
Night blindness, congenital stationary (complete), 1E, autosomal recessive
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Nijmegen breakage syndrome, 251260
Nonaka myopathy, 605820
Noonan syndrome 1, 163950
Noonan syndrome 10, 616564;Noonan syndrome 2, 605275
Noonan syndrome 3, 609942
Noonan syndrome 4, 610733
Noonan syndrome 5, 611553
Noonan syndrome 6, 613224
Noonan syndrome 7, 613706
Noonan syndrome 8, 615355
Noonan syndrome 9, 616559
Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair 2, 617506
Noonan syndrome-like with loose anagen hair, 607721
Norrie disease, 310600
Norum disease, 245900
Nystagmus 1, congenital, X-linked, 310700
Nystagmus 6, congenital, X-linked, 300814
Nystagmus, infantile periodic alternating, X-linked, 310700
O'Donnell-Luria-Rodan syndrome, 618512
OAVS/Goldenhar syndrome
OPHTHALMOPLEGIA, ISOLATED
Obesity, hyperphagia, and developmental delay, 613886
Obesity, morbid, due to leptin receptor deficiency, 614963
Occipital horn syndrome, 304150
Ocular albinism, type I, Nettleship-Falls type, 300500
Oculo-auriculo-vertebral spectrum (OAVS)
Oculodentodigital dysplasia, 164200
Oculodentodigital dysplasia, autosomal recessive, 257850
Odontohypophosphatasia, 146300
Odontoonychodermal dysplasia, 257980
Ogden syndrome, 300855
Ohdo syndrome, X-linked, 300895
Okur-Chung neurodevelopmental syndrome, 617062
Oliver-McFarlane syndrome, 275400
Olmsted syndrome, X-linked, 300918
Omenn syndrome, 603554
Omodysplasia 1, 258315
Omodysplasia 2, 164745
Opitz GBBB syndrome, type I, 300000
Opitz GBBB syndrome, type II, 145410
Opitz-Kaveggia syndrome, 305450
Opsismodysplasia, 258480
Optic atrophy 1, 165500
Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Optic atrophy 3 with cataract, 165300
Optic atrophy 5, 610708
Optic atrophy plus syndrome, 125250
Optic nerve hypoplasia and abnormalities of the central nervous system
Optic nerve hypoplasia, 165550
Ornithine transcarbamylase deficiency, 311250
Oro-facio-digital syndrome type IX
Orofacial cleft 11, 600625
Orofacial cleft 5, 608874
Orofacial cleft 7, 225060
Orofacial cleft 8, 618149
Orofaciodigital syndrome I, 311200
Orofaciodigital syndrome IV, 258860
Orofaciodigital syndrome V, 174300
Orofaciodigital syndrome VI, 277170
Orofaciodigital syndrome XIV, 615948
Orofaciodigital syndrome XVI, 61756
Orofaciodigital syndrome XVII, 617926
Orotic aciduria, 258900
Orthostatic hypotension 1, due to DBH deficiency, 223360
Osseous heteroplasia, progressive, 166350
Osteoarthritis with mild chondrodysplasia, 604864
Osteochondrodysplasia, 184260
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897
Osteogenesis imperfecta, type I, 166200
Osteogenesis imperfecta, type II, 166210
Osteogenesis imperfecta, type III, 259420
Osteogenesis imperfecta, type IV, 166220
Osteogenesis imperfecta, type IX, 259440
Osteogenesis imperfecta, type V, 610967
Osteogenesis imperfecta, type VI, 613982
Osteogenesis imperfecta, type VII, 610682
Osteogenesis imperfecta, type VIII, 610915
Osteogenesis imperfecta, type X, 613848
Osteogenesis imperfecta, type XI, 610968
Osteogenesis imperfecta, type XIII, 614856
Osteogenesis imperfecta, type XIV, OMIM:615066
Osteogenesis imperfecta, type XIX, 301014
Osteogenesis imperfecta, type XV, 615220
Osteoglophonic dysplasia, 166250
Osteolysis, familial expansile, 174810
Osteomalacia, tumor-induced
Osteopathia striata with cranial sclerosis, 300373
Osteopetrosis, autosomal dominant 1, 607634
Osteopetrosis, autosomal dominant 2, 166600
Osteopetrosis, autosomal recessive 1, 259700
Osteopetrosis, autosomal recessive 2, 259710
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
Osteopetrosis, autosomal recessive 4, 611490
Osteopetrosis, autosomal recessive 5, 259720
Osteopetrosis, autosomal recessive 7, 612301
Osteopetrosis, autosomal recessive 8, 615085
Osteopoikilosis with or without melorheostosis, 166700
Osteoporosis-pseudoglioma syndrome, 259770
Osteosclerosis, 144750
Otofaciocervical syndrome, 166780
Otopalatodigital syndrome, type I, 311300
Otopalatodigital syndrome, type II, 304120
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150
Ovalocytosis, SA type, 166900
Ovarian carcinoma
Ovarian dysgenesis 6, 618078
Ovarian dysgenesis 7, 618117
Ovarioleukodystrophy, 603896
Overgrowth with Intellectual disability
Overhydrated hereditary stomatocytosis, 185000
PARKINSONISM/MELAS OVERLAP SYNDROME
PCWH syndrome, 609136
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
PIK3CA-related Overgrowth Spectrum
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
Pachyonychia congenita 1, 167200
Pachyonychia congenita 2, 167210
Pachyonychia congenita 3, 615726
Paget disease of bone 3, 167250
Paget disease of bone 5, juvenile-onset, 239000
Pallister-Hall syndrome, 146510
Palmoplantar keratoderma with congenital alopecia, 104100
Palmoplantar keratoderma, nonepidermolytic, focal, 613000
Pancreatic agenesis 2, 615935
Pancreatic agenesis and congenital heart defects, 600001
Pancreatic and cerebellar agenesis, 609069
Pancreatic carcinoma, somatic;Jawad syndrome, 251255
Panhypopituitarism, X-linked, OMIM:312000
Papillon-Lefevre syndrome, 245000
Papillorenal syndrome, 120330
Paraganglioma and gastric stromal sarcoma, 606864
Paragangliomas 1, with or without deafness, 168000
Paragangliomas 4, 115310
Paragangliomas 5, 614165;Leigh syndrome, 256000
Paramyotonia congenita, 168300
Parastremmatic dwarfism, 168400
Parietal foramina 1, 168500
Parietal foramina 2, 609597
Parietal foramina with cleidocranial dysplasia, 168550
Parkinson disease 1, 168601;Dementia, Lewy body, 127750
Parkinson disease 14, autosomal recessive, 612953
Parkinson disease 15, autosomal recessive, 260300
Parkinson disease 20, early-onset, 615530
Parkinson disease 4, 605543
Parkinson disease 6, early onset, 605909
Parkinson disease 7, autosomal recessive early-onset, 606324
Parkinson disease 8, Autosomal Dominant, 607060
Parkinson disease, juvenile, type 2, 600116
Parkinsonism-dystonia, infantile, 1, 613135
Paroxysmal extreme pain disorder, 167400
Paroxysmal nocturnal hemoglobinuria 2, 615399
Paroxysmal nonkinesigenic dyskinesia 1, 118800
Paroxysmal nonkinesigenic dyskinesia, 3, +/- generalized epilepsy
Partington syndrome, 309510
Patent ductus arteriosus 2, 617035;Char syndrome, 169100
Peeling skin syndrome 1, 270300
Peeling skin syndrome 2, 609796
Pelger-Huet anomaly with mild skeletal anomalies, 618019
Pelger-Huet anomaly, 169400
Pelizaeus-Merzbacher disease, 312080
Pendred syndrome, 274600
Periodic fever, familial, OMIM:142680
Periodontitis 1, juvenile, 170650
Peripheral neuropathy, autosomal recessive, +/- impaired intellectual development
Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Periventricular heterotopia with microcephaly, 608097
Periventricular nodular heterotopia 7, 617201
Perlman syndrome, 267000
Peroxisomal acyl-CoA oxidase deficiency, 264470
Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Peroxisome biogenesis disorder 10A (Zellweger), 614882
Peroxisome biogenesis disorder 10B, 617370
Peroxisome biogenesis disorder 11A (Zellweger), 614883
Peroxisome biogenesis disorder 11B, 614885
Peroxisome biogenesis disorder 12A (Zellweger), 614886
Peroxisome biogenesis disorder 13A (Zellweger), 614887
Peroxisome biogenesis disorder 1A (Zellweger), 214100
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Peroxisome biogenesis disorder 2A (Zellweger), 214110
Peroxisome biogenesis disorder 2B, 202370
Peroxisome biogenesis disorder 3A (Zellweger), 614859
Peroxisome biogenesis disorder 3B, 266510
Peroxisome biogenesis disorder 4A (Zellweger), 614862
Peroxisome biogenesis disorder 4B, 614863
Peroxisome biogenesis disorder 5A (Zellweger), 614866
Peroxisome biogenesis disorder 5B, 614867
Peroxisome biogenesis disorder 6A (Zellweger), 614870
Peroxisome biogenesis disorder 6B, 614871
Peroxisome biogenesis disorder 7A (Zellweger), 614872
Peroxisome biogenesis disorder 7B, 614873
Peroxisome biogenesis disorder 8A (Zellweger), 614876
Peroxisome biogenesis disorder 8B, 614877
Peroxisome biogenesis disorder 9B, 614879
Perrault syndrome 1, 233400
Perrault syndrome 3, 614129
Perrault syndrome 4, OMIM:615300
Perrault syndrome 5, 616138
Perry syndrome, 168605
Persistent truncus arteriosus, 217095
Peters-plus syndrome, 261540
Peutz-Jeghers syndrome, 175200
Pfeiffer syndrome, 101600
Phelan-McDermid syndrome, 606232
Phenylketonuria, 261600
Pheochromocytoma, 171300
Phosphoglycerate dehydrogenase deficiency, 601815
Phosphoglycerate kinase 1 deficiency, 300653
Phosphoribosylpyrophosphate synthetase superactivity, 300661
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750
Phosphoserine aminotransferase deficiency, 610992
Phosphoserine phosphatase deficiency, 614023
Pick disease, 172700
Piebaldism, 172800
Pierpont syndrome, 602342
Pierson syndrome, 609049
Pigmentary disorder, reticulate, with systemic manifestations, X-linked
Pigmented nodular adrenocortical disease, primary, 1, 610489
Pigmented paravenous chorioretinal atrophy, 172870
Pitt-Hopkins like syndrome 1, 610042
Pitt-Hopkins-like syndrome 2, 614325
Pituitary hormone deficiency, combined, 1, 613038
Pituitary hormone deficiency, combined, 2, 262600
Pituitary hormone deficiency, combined, 3, 221750
Pituitary hormone deficiency, combined, 4, 262700
Pituitary hormone deficiency, combined, 5, 182230
Pituitary hormone deficiency, combined, 6, 613986
Pityriasis rubra pilaris, OMIM:173200
Plasma fibronectin deficiency, 614101
Plasminogen activator inhibitor-1 deficiency, 613329
Plasminogen deficiency, type I, 217090
Platelet disorder, familial, with associated myeloid malignancy, 601399
Platyspondylic skeletal dysplasia, Torrance type, 151210
Pneumothorax, primary spontaneous, 173600
Poikiloderma with neutropenia, 604173
Poikiloderma, hereditary fibrosing, tendon contract., myopathy, pulm. fibrosis
Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732
Polycystic kidney disease 1, 173900
Polycystic kidney disease 2, 613095
Polycystic kidney disease 3, 600666
Polycystic kidney disease 4, with or without hepatic disease, 263200
Polycystic kidney disease 5, 617610
Polycystic kidney disease 6 with or without polycystic liver disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia, sclerosing leukoencephalopathy 2, 618193
Polycystic liver disease 3 with or without kidney cysts, 617874
Polycystic liver disease 4 with or without kidney cysts, 617875
Polydactyly, postaxial, type A8, 618123
Polydactyly, postaxial, types A1 and B, 174200
Polydactyly, preaxial I, 174400
Polydactyly, preaxial type II, 174500
Polydactyly, preaxial, type IV, 174700
Polyglucosan body disease, adult form, 263570
Polyglucosan body myopathy 1 with or without immunodeficiency
Polyglucosan body myopathy 2, 616199
Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Polymicrogyria with or without vascular-type EDS, 618343
Polymicrogyria, bilateral frontoparietal, 606854
Polymicrogyria, bilateral perisylvian, 615752
Polymicrogyria, bilateral temporooccipital, 612691
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract
Polyposis syndrome, hereditary mixed, 2, 610069
Polyposis, juvenile intestinal, 174900
Pontocerebellar hypoplasia 10 OMIM:615803
Pontocerebellar hypoplasia type 1A, 607596
Pontocerebellar hypoplasia type 2A, 277470
Pontocerebellar hypoplasia type 2B, 612389
Pontocerebellar hypoplasia type 2D, 613811
Pontocerebellar hypoplasia type 4, 225753
Pontocerebellar hypoplasia type 5, 610204
Pontocerebellar hypoplasia, type 11, 617695
Pontocerebellar hypoplasia, type 12, 618266
Pontocerebellar hypoplasia, type 1B, 614678
Pontocerebellar hypoplasia, type 2E, 615851
Pontocerebellar hypoplasia, type 6, 611523
Pontocerebellar hypoplasia, type 7, 614969
Pontocerebellar hypoplasia, type 8, 614961
Pontocerebellar hypoplasia, type 9, 615809
Popliteal pterygium syndrome 1, 119500
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650
Poretti-Boltshauser syndrome, 615960
Porokeratosis 3, multiple types, OMIM:175900
Porphyria cutanea tarda, 176100
Porphyria variegata, 176200
Porphyria, acute hepatic, 612740
Porphyria, acute intermittent, 176000
Porphyria, acute intermittent, nonerythroid variant, 176000
Porphyria, congenital erythropoietic, 263700
Porphyria, hepatoerythropoietic, 176100
Portal hypertension, noncirrhotic, 617068
Potocki-Shaffer syndrome, 601224;PSS;Intellectual disability
Premature aging syndrome, Penttinen type, 601812
Premature ovarian failure 1, 311360
Premature ovarian failure 11, 616946
Premature ovarian failure 7, 612964
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Primary aldosteronism, seizures, and neurologic abnormalities, 615474
Primary lateral sclerosis, juvenile, 606353
Primrose syndrome, 259050
Prion disease with protracted course, 606688
Progressive external ophthalmoplegia with mtDNA deletions, AD 2
Progressive external ophthalmoplegia with mtDNA deletions, AD 3
Progressive external ophthalmoplegia with mtDNA deletions, AD 4
Progressive external ophthalmoplegia with mtDNA deletions, AD 5
Progressive external ophthalmoplegia with mtDNA deletions, AR 2
Progressive external ophthalmoplegia with mtDNA deletions, AR 3
Progressive external ophthalmoplegia with mtDNA deletions, AR 5
Progressive external ophthalmoplegia, autosomal dominant 1, 157640
Progressive external ophthalmoplegia, autosomal recessive 1
Progressive external ophthalmoplegia, mtDNA deletions, AD 6
Progressive familial heart block, type IB, 604559
Prolidase deficiency, 170100
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Properdin deficiency, X-linked, 312060
Propionicacidemia, 606054
Proteasome-associated autoinflammatory syndrome 1 and digenic forms
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Protoporphyria, erythropoietic, 1, 177000
Protoporphyria, erythropoietic, X-linked, 300752
Proud syndrome, 300004
Proximal myopathy and ophthalmoplegia, OMIM:605637
Pseudo-TORCH syndrome 1, 251290
Pseudo-TORCH syndrome 2, 617397
Pseudoachondroplasia, 177170
Pseudohermaphroditism, male, with gynecomastia, 264300
Pseudohypoaldosteronism, type I, 264350
Pseudohypoparathyroidism Ia, 103580
Pseudohypoparathyroidism Ib, 603233
Pseudohypoparathyroidism Ic, 612462
Pseudopseudohypoparathyroidism, 612463
Pseudovaginal perineoscrotal hypospadias, 264600
Pseudoxanthoma elasticum, 264800
Pseudoxanthoma elasticum, forme fruste, 177850
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Psoriasis 14, pustular, OMIM:614204
Psoriasis 2, OMIM:602723
Pulmonary alveolar microlithiasis, 265100
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371
Purpura, posttransfusion
Pycnodysostosis, 265800
Pyle disease, 265900
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
Pyridoxamine 5'-phosphate oxidase deficiency, 610090
Pyropoikilocytosis, 266140
Pyruvate carboxylase deficiency, 266150
Pyruvate dehydrogenase E1-alpha deficiency, 312170
Pyruvate dehydrogenase E1-beta deficiency, 614111
Pyruvate dehydrogenase E2 deficiency, 245348
Pyruvate dehydrogenase phosphatase deficiency, 608782
Pyruvate kinase deficiency, 266200
Quebec platelet disorder, 601709
RAPADILINO syndrome, 266280
RAS-associated autoimmune leukoproliferative disorder, 614470
RIDDLE syndrome, 611943
Rabson-Mendenhall syndrome, 262190
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Radioulnar synostosis, amegakaryocytic thrombocytopenia 1
Rahman syndrome, 617537
Raine syndrome, 259775
Rapp-Hodgkin syndrome, 129400
Raynaud-Claes syndrome, 300114
Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset
Reducing body myopathy, X-linked 1b, with late childhood or adult onset
Refsum disease, 266500
Renal cysts and diabetes syndrome, 137920
Renal glucosuria, 233100
Renal hypodysplasia/aplasia 1, 191830
Renal tubular acidosis with deafness, 267300
Renal tubular acidosis, distal, AD, 179800
Renal tubular acidosis, distal, AR, 611590
Renal tubular acidosis, proximal, with ocular abnormalities, 604278
Renal tubular dysgenesis, 267430
Renal-hepatic-pancreatic dysplasia 1, 208540
Renal-hepatic-pancreatic dysplasia 2, 615415
Renpenning syndrome, 309500
Restrictive dermopathy, lethal, 275210
Reticular dysgenesis, 267500
Retinal arteries, tortuosity of, 180000
Retinal dystrophy with macular staphyloma, 617547
Retinal dystrophy, early-onset severe, 248200
Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125
Retinitis pigmentosa 19, 601718
Retinitis pigmentosa 20, 613794
Retinitis pigmentosa 23, 300424
Retinitis pigmentosa 28, 606068
Retinitis pigmentosa 3, 300029
Retinitis pigmentosa 42, 612943
Retinitis pigmentosa 51, 613464
Retinitis pigmentosa 54, 613428
Retinitis pigmentosa 57, 613582
Retinitis pigmentosa 59, 613861
Retinitis pigmentosa 61, 614180
Retinitis pigmentosa 64, 614500
Retinitis pigmentosa 71, 616394
Retinitis pigmentosa 73, 616544
Retinitis pigmentosa 74, 616562
Retinitis pigmentosa 76, 617123
Retinitis pigmentosa 79, 617460
Retinitis pigmentosa 80, 617781
Retinitis pigmentosa 81, 617871
Retinitis pigmentosa and erythrocytic microcytosis, 616959
Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinitis pigmentosa, X-linked, sinorespiratory infections, +/- deafness
Retinitis pigmentosa, juvenile, 604393
Retinitis pigmentosa-12, 600105
Retinoschisis, 312700
Rett syndrome, 312750
Rett syndrome, atypical, 312750
Rett syndrome, congenital variant, 613454
Rett syndrome, preserved speech variant, 312750
Revesz syndrome, 268130
Reynolds syndrome, 613471
Rhabdoid tumors, somatic, 609322
Rhabdomyosarcoma 2, alveolar, 268220
Rhizomelic chondrodysplasia punctata, type 1, 215100
Rhizomelic chondrodysplasia punctata, type 2, 222765
Rhizomelic chondrodysplasia punctata, type 3, 600121
Rhizomelic chondrodysplasia punctata, type 5, 616716
Ribose 5-phosphate isomerase deficiency, 608611
Rickets, vitamin D-resistant, type IIA, 277440
Rigidity and multifocal seizure syndrome, lethal neonatal, 614498
Rippling muscle disease 2, 606072
Ritscher-Schinzel syndrome 1, 220210
Ritscher-Schinzel syndrome 2, 300963
Roberts syndrome, 268300
Robin sequence with cleft mandible and limb anomalies, 268305
Robinow syndrome, autosomal dominant 1, 180700
Robinow syndrome, autosomal dominant 2, 616331
Robinow syndrome, autosomal dominant 3, 616894
Robinow syndrome, autosomal recessive, 268310
Roifman syndrome, 616651
Rothmund-Thomson syndrome, type 2,, 268400
Roussy-Levy syndrome, 180800
Rubinstein-Taybi syndrome 1, 180849
Rubinstein-Taybi syndrome 2, 613684
SADDAN, 616482
SBBYSS syndrome, 603736
SC phocomelia syndrome, 269000
SCID with microcephaly, growth ret., sens. to ionizing radiation
SCID, T-cell negative, B-cell/natural killer cell-positive type
SCID, autosomal recessive, T-negative/B-positive type, 600802
SED congenita, 183900
SEIZURES AND LACTIC ACIDOSIS
SENSORINEURAL DEAFNESS AND MIGRAINE
SESAME syndrome, 612780
SHORT syndrome, 269880
SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
SIDS
SMED Strudwick type, 184250
STAR syndrome, 300707
STING-associated vasculopathy, infantile-onset, OMIM:615934
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
SUDDEN DEATH
Saethre-Chotzen syndrome with or without eyelid anomalies, 101400
Saethre-Chotzen syndrome, 101400
Salih myopathy, 611705
Salla disease, 604369
Salt and pepper developmental regression syndrome, 609056
Sandhoff disease, infantile, juvenile, and adult forms, 268800
Saul-Wilson syndrome, 618150
Scalp-ear-nipple syndrome, 181270
Scaphocephaly and Axenfeld-Rieger anomaly
Scaphocephaly, maxillary retrusion, mental retardation, 609579
Scapuloperoneal myopathy, X-linked dominant, 300695
Scapuloperoneal spinal muscular atrophy, 181405
Scapuloperoneal syndrome, myopathic type, 181430
Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Schaaf-Yang syndrome, 615547
Schimke immunoosseous dysplasia, 242900
Schindler disease, type I, 609241
Schindler disease, type III, 609241
Schinzel-Giedion midface retraction syndrome, 269150
Schizencephaly, 269160
Schneckenbecken dysplasia, 269250
Schopf-Schulz-Passarge syndrome, 224750
Schuurs-Hoeijmakers syndrome, 615009
Schwartz-Jampel syndrome, MONDO:0009717
Schwartz-Jampel syndrome, type 1, OMIM:255800
Sclerosing cholangitis, neonatal, 617394
Sclerosteosis 1, 269500
Sclerosteosis 2, 614305
Scott syndrome, 262890
Sea-blue histiocyte disease, 269600
Seckel syndrome 1, 210600
Seckel syndrome 2, 606744
Seckel syndrome 4, 613676
Seckel syndrome 5, 613823
Seckel syndrome 6, 614728
Seckel syndrome 8, 615807
Seckel syndrome 9, 616777
Segawa syndrome, recessive, 605407
Seizures, benign familial infantile, 2, 605751
Seizures, benign familial infantile, 3, 607745
Seizures, benign familial infantile, 5, 617080
Seizures, benign neonatal, 1, 121200;Myokymia, 121200
Seizures, benign neonatal, 2, 121201
Seizures, cortical blindness, microcephaly syndrome, 616632
Seizures, scoliosis, and macrocephaly syndrome, 616682
Sengers syndrome, 212350
Senior-Loken syndrome 4, 606996
Senior-Loken syndrome 5, 609254
Senior-Loken syndrome 6, 610189
Senior-Loken syndrome 7, 613615;Bardet-Biedl syndrome 16, 615993
Senior-Loken syndrome 8, 616307;?Cranioectodermal dysplasia 4, 614378
Senior-Loken syndrome 9, 616629
Senior-Loken syndrome-1, 266900
Sensorineural deafness with mild renal dysfunction, 602522
Septooptic dysplasia, 182230
Severe combined immunodeficiency due to ADA deficiency
Severe combined immunodeficiency, Athabascan type, 602450
Severe combined immunodeficiency, B cell-negative, 601457
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
Severe combined immunodeficiency, X-linked, 300400
Shaheen syndrome, 615328
Shashi-Pena syndrome, 617190
Short QT syndrome 2, 609621
Short QT syndrome 3, OMIM:609622
Short Stature, High Circulating IGF-I, IGFBP-3, ALS, Mild Microcephaly, thin Long Bones
Short stature with microcephaly and distinctive facies, 615789
Short stature with nonspecific skeletal abnormalities, 616255
Short stature, amelogenesis imperfecta, skeletal dysplasia with scoliosis
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
Short stature, brachydactyly, intellectual developmental disability, seizures
Short stature, facial dysmorphism, skelet. +/- cardiac anomalies, 617877
Short stature, idiopathic familial, 300582
Short stature, microcephaly, and endocrine dysfunction, 616541
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis, 614813
Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Short stature, rhizomelic, microcephaly, micrognathia, developmental delay
Short stature/adv. bone age +/- early-onset osteoarthritis -/- osteochondr. diss.
Short-rib thoracic dysplasia 10 with or without polydactyly, 61563
Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
Short-rib thoracic dysplasia 14 with polydactyly, 616546
Short-rib thoracic dysplasia 15 with polydactyly, 617088
Short-rib thoracic dysplasia 16 with or without polydactyly
Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
Short-rib thoracic dysplasia 18 with polydactyly, 617866
Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
Short-rib thoracic dysplasia 20 with polydactyly, 617925
Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
Shprintzen-Goldberg syndrome, 182212
Shwachman-Diamond syndrome, 260400
Sialic acid storage disorder, infantile, 269920
Sialidosis, type I, 256550
Sialidosis, type II, 256550
Sialuria, 269921
Sickle cell anemia, 603903
Sideroblastic anemia , B-cell immunodeficiency, periodic fevers, developmental delay
Sifrim-Hitz-Weiss syndrome, 617159
Silver spastic paraplegia syndrome, 270685
Silver-Russell syndrome, OMIM:180860
Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
Simpson-Golabi-Behmel syndrome, type 1, 312870
Simpson-Golabi-Behmel syndrome, type 2, 300209
Single median maxillary central incisor, 147250
Singleton-Merten syndrome 1, 182250
Sinoatrial node dysfunction and deafness, 614896
Sitosterolemia, 210250
Sjogren-Larsson syndrome, 270200
Skin fragility-woolly hair syndrome, 607655
Skraban-Deardorff syndrome, 617616
Small fiber neuropathy, 133020
Smith-Kingsmore syndrome, 616638
Smith-Lemli-Opitz syndrome, 270400
Smith-Magenis syndrome, 182290
Smith-McCort dysplasia 2, 615222
Smith-McCort dysplasia, 607326
Sneddon syndrome, OMIM:182410
Snijders Blok-Campeau syndrome, 618205
Snijders Blok-Fisher syndrome, 618604
Sodium serum level QTL 1, 613508
Sotos syndrome 1, 117550
Sotos syndrome 2, 614753
Spastic ataxia 1, autosomal dominant, 108600
Spastic ataxia 2, autosomal recessive, 611302
Spastic ataxia 3, autosomal recessive, 611390
Spastic ataxia 5, autosomal recessive, 614487
Spastic ataxia 8, autosomal recessive, hypomyelinating leukodystrophy
Spastic ataxia, Charlevoix-Saguenay type, 270550
Spastic paralysis, infantile onset ascending, 607225
Spastic paraplegia 10, autosomal dominant, 604187
Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 12, autosomal dominant, 604805
Spastic paraplegia 13, autosomal dominant, 605280
Spastic paraplegia 15, autosomal recessive, 270700
Spastic paraplegia 18, autosomal recessive, 611225
Spastic paraplegia 2, X-linked, 312920
Spastic paraplegia 23, 270750
Spastic paraplegia 26, autosomal recessive, 609195
Spastic paraplegia 28, autosomal recessive, 609340
Spastic paraplegia 30, autosomal recessive, 610357
Spastic paraplegia 31, autosomal dominant, 610250
Spastic paraplegia 35, autosomal recessive, 612319
Spastic paraplegia 39, autosomal recessive, 612020
Spastic paraplegia 3A, autosomal dominant, 182600
Spastic paraplegia 4, autosomal dominant, 182601
Spastic paraplegia 42, autosomal dominant, 612539
Spastic paraplegia 43, autosomal recessive, 615043
Spastic paraplegia 44, autosomal recessive, 613206
Spastic paraplegia 45, autosomal recessive, 613162
Spastic paraplegia 46, autosomal recessive, 614409
Spastic paraplegia 47, autosomal recessive, OMIM:614066
Spastic paraplegia 48, autosomal recessive, 613647
Spastic paraplegia 49, autosomal recessive, 615031
Spastic paraplegia 50, autosomal recessive, 612936
Spastic paraplegia 51, autosomal recessive, 613744
Spastic paraplegia 52, autosomal recessive, 614067
Spastic paraplegia 54, autosomal recessive, 615033
Spastic paraplegia 55, autosomal recessive, 615035
Spastic paraplegia 56, autosomal recessive, 615030
Spastic paraplegia 57, autosomal recessive, 615658
Spastic paraplegia 5A, autosomal recessive, 270800
Spastic paraplegia 6, autosomal dominant, 600363
Spastic paraplegia 62, 615681
Spastic paraplegia 63, 615686
Spastic paraplegia 64, autosomal recessive, 615683
Spastic paraplegia 7, autosomal recessive, 607259
Spastic paraplegia 74, autosomal recessive, 616451
Spastic paraplegia 76, autosomal recessive, 616907
Spastic paraplegia 77, autosomal recessive, 617046
Spastic paraplegia 78, autosomal recessive, 617225
Spastic paraplegia 79, autosomal recessive, 615491
Spastic paraplegia 8, autosomal dominant, 603563
Spastic paraplegia 80, autosomal dominant, 618418
Spastic paraplegia 9A, autosomal dominant, 601162
Spastic paraplegia 9B, autosomal recessive, 616586
Spastic paraplegia and psychomotor retardation with or without seizures
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Spastic tetraplegia, thin corpus callosum, progressive microcephaly, 616657
Spasticity, childhood-onset, with hyperglycinemia, 616859
Specific granule deficiency, 245480
Speech-language disorder-1, 602081
Spermatogenic failure 8, 613957
Spherocytosis, type 1, 182900
Spherocytosis, type 2, 616649
Spherocytosis, type 3, 270970
Spherocytosis, type 4, 612653
Spherocytosis, type 5, 612690
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
Spinal muscular atrophy with progressive myoclonic epilepsy
Spinal muscular atrophy, Jokela type, 615048
Spinal muscular atrophy, X-linked 2, infantile, 301830
Spinal muscular atrophy, distal, X-linked 3, 300489
Spinal muscular atrophy, distal, congenital nonprogressive, 600175
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Spinal muscular atrophy, lower extremity-predominant, 2A, AD
Spinal muscular atrophy, lower extremity-predominant, 2B, AD
Spinal muscular atrophy-1, 253300
Spinal muscular atrophy-2, 253550
Spinal muscular atrophy-3, 253400
Spinal muscular atrophy-4, 271150
Spinocerebellar ataxia 1, OMIM:164400
Spinocerebellar ataxia 10, 603516
Spinocerebellar ataxia 11, 604432
Spinocerebellar ataxia 12, 604326
Spinocerebellar ataxia 13, 605259
Spinocerebellar ataxia 14, 605361
Spinocerebellar ataxia 15, 606658
Spinocerebellar ataxia 17, 607136
Spinocerebellar ataxia 19, 607346
Spinocerebellar ataxia 2, OMIM:183090
Spinocerebellar ataxia 21, 607454
Spinocerebellar ataxia 23, 610245
Spinocerebellar ataxia 27, 609307
Spinocerebellar ataxia 28, 610246
Spinocerebellar ataxia 29, congenital nonprogressive, 117360
Spinocerebellar ataxia 31, 117210
Spinocerebellar ataxia 34, 133190
Spinocerebellar ataxia 35, 613908
Spinocerebellar ataxia 36, 614153
Spinocerebellar ataxia 37, 615945
Spinocerebellar ataxia 38, 615957
Spinocerebellar ataxia 40
Spinocerebellar ataxia 42, 616795
Spinocerebellar ataxia 42, early-onset, severe, neurodevelopmental deficits
Spinocerebellar ataxia 44, 617691
Spinocerebellar ataxia 47, 617931
Spinocerebellar ataxia 48, OMIM:618093
Spinocerebellar ataxia 5, 600224
Spinocerebellar ataxia 6, 183086
Spinocerebellar ataxia 7, 164500
Spinocerebellar ataxia, autosomal recessive 10, 613728
Spinocerebellar ataxia, autosomal recessive 12, 614322
Spinocerebellar ataxia, autosomal recessive 13, 614831
Spinocerebellar ataxia, autosomal recessive 14, 615386
Spinocerebellar ataxia, autosomal recessive 17, 616127
Spinocerebellar ataxia, autosomal recessive 18, 616204
Spinocerebellar ataxia, autosomal recessive 2, 213200
Spinocerebellar ataxia, autosomal recessive 20, 616354
Spinocerebellar ataxia, autosomal recessive 24, 617133
Spinocerebellar ataxia, autosomal recessive 4, 607317
Spinocerebellar ataxia, autosomal recessive 7, 609270
Spinocerebellar ataxia, autosomal recessive 8, 610743
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Split-foot malformation with mesoaxial polydactyly
Split-foot malformation-mesoaxial polydactyly syndrome
Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
Split-hand/foot malformation 4, 605289
Split-hand/foot malformation 6, 225300
Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330
Spondylocarpotarsal synostosis syndrome, 272460
Spondylocostal dysostosis 1, autosomal recessive, 277300
Spondylocostal dysostosis 2, autosomal recessive, 608681
Spondylocostal dysostosis 3, autosomal recessive, 609813
Spondylocostal dysostosis 4, autosomal recessive, 613686
Spondylocostal dysostosis 5, 122600
Spondyloenchondrodysplasia with immune dysregulation, 607944
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, +/- fractures
Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546
Spondyloepimetaphyseal dysplasia, 608728
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442
Spondyloepimetaphyseal dysplasia, Missouri type, 602111
Spondyloepimetaphyseal dysplasia, X-linked, 300106
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230
Spondyloepiphyseal dysplasia tarda, 313400
Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095
Spondyloepiphyseal dysplasia, Kimberley type, 608361
Spondyloepiphyseal dysplasia, Stanescu type, 616583
Spondylometaepiphyseal dysplasia, short limb-hand type, 271665
Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Spondylometaphyseal dysplasia, Kozlowski type, 184252;SED
Spondylometaphyseal dysplasia, axial, 602271
Spondylometaphyseal dysplasia, corner fracture type, 184255
Spondyloocular syndrome, 605822
Spondyloperipheral dysplasia, 271700
Stankiewicz-Isidor syndrome, 617516
Stapes ankylosis with broad thumbs and toes, 184460
Stargardt disease 1, 248200
Stargardt disease 3, 600110
Steatocystoma multiplex, 184500
Stereotypic behavior
Stickler sydrome, type I, nonsyndromic ocular, 609508
Stickler syndrome, type I, 108300
Stickler syndrome, type II, 604841
Stickler syndrome, type IV, 614134
Stickler syndrome, type V, 614284
Stiff skin syndrome, 184900
Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Stormorken syndrome, 185070;Myopathy, tubular aggregate, 1, 160565
Striatal degeneration, autosomal dominant, 616922
Striatonigral degeneration, childhood-onset, 617054
Stromme syndrome, 243605
Stuttering, familial persistent, 1, 184450
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559
Subcortical laminal heterotopia, X-linked, 300067
Subcortical laminar heterotopia, 607432
Succinic semialdehyde dehydrogenase deficiency, 271980
Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
Sucrase-isomaltase deficiency, congenital, 222900
Sudden cardiac failure, infantile, 617222
Sulfite oxidase deficiency, 272300
Supranuclear palsy, progressive atypical, 260540
Supranuclear palsy, progressive, 601104
Supravalvar aortic stenosis, 185500
Surfactant metabolism dysfunction, pulmonary, 1, 265120
Surfactant metabolism dysfunction, pulmonary, 3, 610921
Surfactant metabolism dysfunction, pulmonary, 4, 300770
Surfactant metabolism dysfunction, pulmonary, 5, 614370
Susceptibility to mycobacteria;Defects in Intrinsic and Innate Immunity
Sweat chloride elevation without CF
Sweeney-Cox syndrome, 617746;Robinow-Sorauf syndrome, 180750
Symmetric circumferential skin creases, congenital, 1, 156610
Symmetric circumferential skin creases, congenital, 2, 616734
Symphalangism, proximal, 1A, 185800
Symphalangism, proximal, 1B, 615298
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
Syndactyly, type III, 186100
Syndactyly, type IV, 186200
Syndactyly, type V, 186300
Syndromic Developmental Disorder
Synpolydactyly 1, 186000
T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705
T-cell immunodeficiency, recurrent infections, autoimmunity, cardiac malformations
TARP syndrome, 311900
TPP2 deficiency
Takenouchi-Kosaki syndrome, 616737
Tangier disease, 205400
Tarsal-carpal coalition syndrome, 186570
Tatton-Brown-Rahman syndrome, 615879
Tay-Sachs disease, 272800
Telangiectasia, hereditary hemorrhagic, type 1, 187300
Telangiectasia, hereditary hemorrhagic, type 2, 600376
Temple-Baraitser syndrome, 611816
Temtamy preaxial brachydactyly syndrome, 605282
Temtamy syndrome, 218340
Tenorio syndrome, 616260
Terminal osseous dysplasia, 300244
Testicular anomalies with or without congenital heart disease, 615542
Tetralogy of Fallot, 187500
Thalassemia, alpha-, 604131
Thalassemia, beta, 613985
Thalassemia-beta, dominant inclusion-body, 603902
Thalassemias, alpha-, 604131
Thanatophoric dysplasia, type I, 187600
Thanatophoric dysplasia, type II, 187601
Thiamine metabolism dysfunction syndrome 2
Thiamine metabolism dysfunction syndrome 4, progr. polyneuropathy type
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Thiamine-responsive megaloblastic anemia syndrome, 249270
Thrombocythemia 1, 187950
Thrombocythemia 2, 601977
Thrombocytopenia 2, 188000
Thrombocytopenia 3, 273900
Thrombocytopenia 4, 612004
Thrombocytopenia 5, 616216
Thrombocytopenia 6, 616937
Thrombocytopenia with beta-thalassemia, X-linked, 314050
Thrombocytopenia, X-linked, 313900
Thrombocytopenia, X-linked, intermittent, 313900
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Thrombocytopenia, anemia, and myelofibrosis, 617441
Thrombocytopenia, congenital amegakaryocytic, 604498
Thrombocytopenia, neonatal alloimmune
Thrombocytopenia, neonatal alloimmune, BAK antigen rel.
Thrombocytopenia-absent radius syndrome, 274000
Thrombophilia due to protein C deficiency, autosomal dominant, 176860
Thrombophilia due to protein C deficiency, autosomal recessive, 612304
Thrombophilia due to protein S deficiency, autosomal dominant, 612336
Thrombophilia due to protein S deficiency, autosomal recessive, 614514
Thrombophilia due to thrombin defect, 188050
Thrombophilia due to thrombomodulin defect, 614486
Thrombophilia, X-linked, due to factor IX defect, 300807
Thrombosis, hyperhomocysteinemic, 236200
Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Thyroid dyshormonogenesis 1, 274400
Thyroid dyshormonogenesis 2A, 274500
Thyroid dyshormonogenesis 3, 274700
Thyroid dyshormonogenesis 6, 607200
Thyroid hormone resistance, 188570
Thyroid hormone resistance, autosomal recessive, 274300
Thyroid hormone resistance, selective pituitary, 145650
Tibial muscular dystrophy, tardive, 600334
Tietz albinism-deafness syndrome, 103500
Timothy syndrome, 601005
Toenail dystrophy, isolated, 607523
Tonne-Kalscheuer syndrome, 300978
Tooth agenesis, selective, 1, with or without orofacial cleft, 106600
Tooth agenesis, selective, 3, 604625
Tooth agenesis, selective, 4, 150400
Tooth agenesis, selective, 8, 617073
Tooth agenesis, selective, X-linked 1, 313500
Townes-Brocks branchiootorenal-like syndrome, 107480
Townes-Brocks syndrome 1, 107480
Transaldolase deficiency, 606003
Transcobalamin II deficiency, 275350
Transient bullous of the newborn, 131705
Transposition of the great arteries, dextro-looped 1, 608808
Treacher Collins syndrome 1, 154500
Treacher Collins syndrome 2, 613717
Treacher Collins syndrome 3, 248390
Trichodontoosseous syndrome, 190320
Trichohepatoenteric syndrome 1, 222470
Trichohepatoenteric syndrome 2, 614602
Trichohepatoneurodevelopmental syndrome, 618268
Trichorhinophalangeal syndrome, type I, 190350
Trichorhinophalangeal syndrome, type III, 190351
Trichothiodystrophy 1, photosensitive, 601675
Trichothiodystrophy 2, photosensitive, 616390
Trichothiodystrophy 3, photosensitive, 616395
Trichothiodystrophy 4, nonphotosensitive, 234050
Trifunctional protein deficiency, 609015
Trigonocephaly 1, 190440
Trigonocephaly 2, 614485
Trimethylaminuria, 602079
Triphalangeal thumb, type I, 174500
Triphalangeal thumb-polysyndactyly syndrome, 174500
Triple-A syndrome, MONDO:0009279
Trismus-pseudocamptodactyly syndrome, 158300
Troyer syndrome, 275900
Tuberous sclerosis-1, 191100
Tuberous sclerosis-2, 613254
Tumoral calcinosis, familial, normophosphatemic, 610455
Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993
Turnpenny-Fry syndrome, 618371
Tyrosinemia, type I, 276700
Tyrosinemia, type II, 276600
Tyrosinemia, type III, 276710
UV-sensitive syndrome 1, 600630
UV-sensitive syndrome 2, 614621
UV-sensitive syndrome 3, 614640
Ullrich congenital muscular dystrophy 1, 254090
Ullrich congenital muscular dystrophy 2, 616470
Ulna and fibula, absence of, with severe limb deficiency, 276820
Ulnar-mammary syndrome, 181450
Urofacial syndrome 1, 236730
Urofacial syndrome 2, 615112
Uruguay faciocardiomusculoskeletal syndrome, 300280
Usher syndrome, type 1B, 276900
Usher syndrome, type 1C, 276904
Usher syndrome, type 1D, 601067
Usher syndrome, type 1D/F digenic, 601067
Usher syndrome, type 1F, 602083
Usher syndrome, type 1G, 606943
Usher syndrome, type 2A, 276901;Retinitis pigmentosa 39, 613809
Usher syndrome, type 2C, 605472
Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
Usher syndrome, type 3A, 276902
Usher syndrome, type IJ, 614869
VACTERL
VACTERL association, X-linked, 314390
VLCAD deficiency, 201475
Van Buchem disease, 239100
Van Esch-O'Driscoll syndrome, 301030
Van Maldergem syndrome 1, 601390
Van Maldergem syndrome 2, 615546
Van den Ende-Gupta syndrome, 600920
Van der Woude syndrome 2, 606713
Vasculitis, autoinflammation, immunodeficiency, hematologic defects
Vasculopathy, retinal, with cerebral leukodystrophy, 192315
Velocardiofacial syndrome, 192430
Venous malformations, multiple cutaneous and mucosal, 600195
Ventricular septal defect 1, 614429
Ventricular septal defect 3, 614432
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938
Ventriculomegaly with cystic kidney disease, 219730
Verheij syndrome, 615583
Vertebral, cardiac, renal, and limb defects syndrome 1, 617660
Vertebral, cardiac, renal, and limb defects syndrome 2, 617661
Ververi-Brady syndrome, 617982
Vesicoureteral reflux 3, 613674
Vici syndrome, 242840
Visceral myopathy, 155310
Vitamin D-dependent rickets, type I, 264700
Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450
Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Vohwinkel syndrome, 124500
WHIM syndrome, 193670
Waardenburg syndrome, type 1, 193500
Waardenburg syndrome, type 2A, 193510
Waardenburg syndrome, type 2E, with or without neurologic involvement,
Waardenburg syndrome, type 3, 148820
Waardenburg syndrome, type 4A, 277580
Waardenburg syndrome, type 4C, 613266
Waardenburg syndrome/albinism, digenic, 103470
Waardenburg syndrome/ocular albinism, digenic, 103470
Wagner syndrome 1, 143200
Waisman syndrome, 311510
Warburg micro syndrome 1, 600118
Warburg micro syndrome 2, 614225
Warburg micro syndrome 3, 614222
Warburg micro syndrome 4, 615663
Warburg-Cinotti syndrome, 618175
Warfarin resistance, 122700
Warsaw breakage syndrome, 613398
Watson syndrome, 193520
Weaver syndrome, 277590
Weaver-like overgrowth syndrome
Weill-Marchesani syndrome 1, recessive, 277600
Weill-Marchesani syndrome 2, dominant, 608328
Weill-Marchesani syndrome 3, recessive, 614819
Weill-Marchesani syndrome 4, recessive, 613195
Weiss-Kruszka syndrome, 618619
Welander distal myopathy, 604454
Werner syndrome, 277700
Weyers acrofacial dysostosis, 193530
White-Sutton syndrome, 616364
Wieacker-Wolff syndrome, 314580
Wiedemann-Rautenstrauch syndrome, 264090
Wiedemann-Steiner syndrome, 605130
Wilms tumor 1, 194070
Wilms tumor 2, OMIM:194071
Wilson disease, 277900
Wiskott-Aldrich syndrome, 301000
Witteveen-Kolk syndrome, 613406
Wolcott-Rallison syndrome, 226980
Wolf-Hirschhorn syndrome
Wolff-Parkinson-White syndrome, 194200
Wolfram syndrome 1, 222300
Wolfram syndrome 2, 604928
Wolfram-like syndrome, autosomal dominant, 614296
Wolman disease, 278000
Woodhouse-Sakati syndrome, 241080
Wrinkly skin syndrome, 278250
XFE progeroid syndrome, 610965
Xanthinuria, type I, 278300
Xeroderma pigmentosum, group A, 278700
Xeroderma pigmentosum, group B, 610651
Xeroderma pigmentosum, group C, 278720
Xeroderma pigmentosum, group D, 278730
Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Xeroderma pigmentosum, group F, 278760
Xeroderma pigmentosum, group G, 278780
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
Xeroderma pigmentosum, variant type, 278750
Xia-Gibbs syndrome, 615829
Yao syndrome}, OMIM:617321
You-Hoover-Fong syndrome, 616954
Yunis-Varon syndrome, 216340
ZTTK syndrome, 617140
Zimmermann-Laband syndrome 1, 135500
Zimmermann-Laband syndrome 2, 616455
a/b T-cell lymphopenia with g/d T-cell expansion, severe cytomegalovirus infection, autoimmunity
tetralogy of Fallot and septal defects
van Buchem disease, type 2, 607636
van der Woude syndrome, 119300
von Hippel-Lindau syndrome, 193300
von Willebrand disease, platelet-type, 177820
von Willebrand disease, type 1, 193400
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554
von Willibrand disease, type 3, 277480

Erbgänge, Vererbungsmuster etc.

AD
n.k.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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