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This category may require frequent maintenance to avoid becoming too large. It should directly contain very few, if any, pages and should mainly contain subcategories.
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815:
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
520:
338:
276:
43:
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239:
1314:
914:
909:
380:
292:
The following 200 pages are in this category, out of approximately 440 total.
446:
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
62:
465:
47:
638:
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
171:
This category has the following 5 subcategories, out of 5 total.
825:
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
820:
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
830:
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
15:
376:
Acanthosis nigricans-muscle cramps-acral enlargement syndrome
556:
Autosomal recessive axonal neuropathy with neuromyotonia
156:
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76:
1148:
Galactose-1-phosphate uridylyltransferase deficiency
496:
Aminolevulinic acid dehydratase deficiency porphyria
561:
Autosomal recessive GTP cyclohydrolase I deficiency
30:should be moved to subcategories where applicable.
566:Autosomal recessive multiple epiphyseal dysplasia
289:Pages in category "Autosomal recessive disorders"
860:Congenital insensitivity to pain with anhidrosis
628:Biotin-thiamine-responsive basal ganglia disease
371:Absent tibia-polydactyly-arachnoid cyst syndrome
476:Alpha-aminoadipic and alpha-ketoadipic aciduria
349:17β-Hydroxysteroid dehydrogenase III deficiency
870:Corneal dystrophy-perceptive deafness syndrome
720:Carnitine-acylcarnitine translocase deficiency
516:Arginine:glycine amidinotransferase deficiency
344:6-Pyruvoyltetrahydropterin synthase deficiency
1298:Guanidinoacetate methyltransferase deficiency
1183:Generalized arterial calcification of infancy
840:Congenital disorder of glycosylation type IIc
675:Arterial calcification due to CD73 deficiency
8:
1288:Gonadotropin-releasing hormone insensitivity
785:Chronic progressive external ophthalmoplegia
715:Carnitine palmitoyltransferase II deficiency
426:Adenine phosphoribosyltransferase deficiency
334:2-Methylbutyryl-CoA dehydrogenase deficiency
957:Dilated cardiomyopathy with ataxia syndrome
835:Congenital amegakaryocytic thrombocytopenia
710:Carnitine palmitoyltransferase I deficiency
700:Carbamoyl phosphate synthetase I deficiency
317:Prevention of autosomal recessive disorders
1101:Follicle-stimulating hormone insensitivity
952:Dihydropyrimidine dehydrogenase deficiency
511:Apparent mineralocorticoid excess syndrome
546:Athabaskan brainstem dysgenesis syndrome
294:This list may not reflect recent changes
1056:Familial isolated vitamin E deficiency
962:Distal spinal muscular atrophy type 1
895:Craniosynostosis and dental anomalies
855:Congenital ichthyosiform erythroderma
7:
977:Dopamine beta hydroxylase deficiency
927:D-glycerate dehydrogenase deficiency
623:Bietti's crystalline dystrophy
1355:Hemophagocytic lymphohistiocytosis
937:Dermatoosteolysis, Kirghizian type
885:Cranio-lenticulo-sutural dysplasia
303:
249:
232:
208:
184:
173:
165:
14:
1253:Glycogen storage disease type III
1233:Glutathione synthetase deficiency
441:Adenylosuccinate lyase deficiency
1394:Genetic disorders by inheritance
1248:Glycogen storage disease type II
880:Cousin–Walbraum–Cegarra syndrome
588:Bare lymphocyte syndrome type II
431:Adenosine deaminase 2 deficiency
20:
1360:Hereditary folate malabsorption
1258:Glycogen storage disease type V
1243:Glycogen storage disease type I
1218:Glucose-galactose malabsorption
1208:Glanzmann's thrombasthenia
800:Combarros–Calleja–Leno syndrome
361:Abdallat–Davis–Farrage syndrome
1278:GM2-gangliosidosis, AB variant
1263:Phosphofructokinase deficiency
1143:Galactose epimerase deficiency
1081:Fatty-acid metabolism disorder
810:Congenital adrenal hyperplasia
760:Cerebrotendinous xanthomatosis
658:Boudhina-Yedes-Khiari syndrome
436:Adenosine deaminase deficiency
411:Acute fatty liver of pregnancy
1:
1365:Hereditary pyropoikilocytosis
1330:Hamanishi Ueba Tsuji syndrome
850:Congenital hypofibrinogenemia
1061:Familial Mediterranean fever
705:Carey Fineman Ziter syndrome
613:Beta-ketothiolase deficiency
531:Arterial tortuosity syndrome
406:Acrodermatitis enteropathica
1213:Glucocorticoid deficiency 1
1188:Gerodermia osteodysplastica
1034:Ethylmalonic encephalopathy
875:Corneal-cerebellar syndrome
845:Congenital hepatic fibrosis
416:Acyl-CoA oxidase deficiency
212:Inborn errors of metabolism
1410:
1024:Endocardial fibroelastosis
1014:Ellis–Van Creveld syndrome
947:Dicarboxylic aminoaciduria
890:Craniodiaphyseal dysplasia
755:Cerebral folate deficiency
653:Boucher-Neuhäuser syndrome
329:2-Hydroxyglutaric aciduria
1370:Hermansky–Pudlak syndrome
1340:Harlequin-type ichthyosis
1046:Faciocardiorenal syndrome
735:Cartilage–hair hypoplasia
541:Atelosteogenesis, type II
526:Argininosuccinic aciduria
501:Amish lethal microcephaly
491:Aminoacylase 1 deficiency
1228:Glutaric aciduria type 1
1223:Glutaric acidemia type 2
1138:Galactokinase deficiency
1116:Friedreich's ataxia
1096:Finnish heritage disease
765:Chédiak–Higashi syndrome
750:Cenani–Lenz syndactylism
608:Bernard–Soulier syndrome
583:Bare lymphocyte syndrome
39:For more information on
1283:Goldmann–Favre syndrome
1193:Giant axonal neuropathy
1158:Galloway–Mowat syndrome
805:Compound heterozygosity
421:Adducted thumb syndrome
396:Achondrogenesis type 1B
253:Spinal muscular atrophy
28:Pages in this category
1325:Halperin-Birk syndrome
1238:Glycine encephalopathy
1178:Gaucher's disease
1091:Fine–Lubinsky syndrome
982:Dubin–Johnson syndrome
663:Buttien-Fryns syndrome
633:Biotinidase deficiency
578:Baller–Gerold syndrome
536:Aspartylglucosaminuria
506:Antley–Bixler syndrome
56:Dominance relationship
1066:Familial nasal acilia
1051:Familial dysautonomia
1029:Essential fructosuria
1019:Enamel-renal syndrome
942:Diastrophic dysplasia
780:Chorea-acanthocytosis
461:Aldolase A deficiency
401:Acrocallosal syndrome
740:Caspase-8 deficiency
648:Blue diaper syndrome
366:Abetalipoproteinemia
1320:Hall-Riggs syndrome
1126:Fumarase deficiency
1086:Fibrochondrogenesis
236:Sickle-cell disease
46:, see the articles
41:autosomal recessive
1293:Griscelli syndrome
1273:GM2 gangliosidoses
1268:GM1 gangliosidoses
1198:Gillespie syndrome
730:Carpenter syndrome
481:Alpha-mannosidosis
456:Albinism in humans
386:Aceruloplasminemia
1377:(previous page) (
1203:Gitelman syndrome
1153:Galactosialidosis
1106:Fountain syndrome
992:Dysosteosclerosis
987:Dubowitz syndrome
932:De Barsy syndrome
795:Cockayne syndrome
618:Beta-mannosidosis
451:Al-Raqad syndrome
298:(previous page) (
273:Tay–Sachs disease
36:
35:
1401:
1350:Heimler syndrome
967:Donohue syndrome
900:Cystathioninuria
775:Chondrodystrophy
551:Atransferrinemia
486:Alwadei syndrome
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1345:Hartnup disease
1307:
1303:Gunther disease
1130:
1111:Fraser syndrome
1038:
996:
919:
905:Cystic fibrosis
745:CD55 deficiency
695:CANDLE syndrome
690:Canavan disease
685:CAMFAK syndrome
667:
603:Berdon syndrome
570:
353:
321:
312:Carrier testing
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1163:Gangliosidosis
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832:
827:
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797:
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770:CHIME syndrome
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643:Bloom syndrome
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593:Batten disease
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52:Recessive gene
34:
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1173:Gastroschisis
1171:
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1168:GAPO syndrome
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1007:
1005:
1004:EAST syndrome
1002:
1001:
998:
993:
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988:
985:
983:
980:
978:
975:
973:
972:DOOR syndrome
970:
968:
965:
963:
960:
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938:
935:
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821:
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798:
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790:Citrullinemia
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768:
766:
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680:Calpainopathy
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621:
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598:Behr syndrome
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168:Subcategories
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31:
27:
18:
17:
1009:EEM syndrome
725:Carnosinemia
471:Alkaptonuria
391:Acheiropodia
291:
216:(17 C, 28 P)
170:
40:
38:
37:
29:
1121:Fucosidosis
521:Argininemia
339:3C syndrome
257:(1 C, 21 P)
240:(1 C, 13 P)
192:(3 C, 28 P)
44:inheritance
1315:H syndrome
915:Cystinuria
910:Cystinosis
381:Acatalasia
1379:next page
300:next page
65:Contents
1388:Category
466:ALG1-CDG
48:Autosome
277:(4 P)
54:and
324:0–9
77:0–9
72:Top
1390::
1381:)
296:.
275:‎
255:‎
238:‎
214:‎
190:‎
50:,
1310:H
1133:G
1041:F
999:E
922:D
670:C
573:B
356:A
307:*
302:)
266:T
225:S
201:I
177:C
157:Z
154:Y
151:X
148:W
145:V
142:U
139:T
136:S
133:R
130:Q
127:P
124:O
121:N
118:M
115:L
112:K
109:J
106:I
103:H
100:G
97:F
94:E
91:D
88:C
85:B
82:A
58:.
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