To PrenatalScreen®, ένα διαγνωστικό τεστ που αναπτύχθηκε από τον όμιλο GENOMA, επιτρέπει τη γενετική ανάλυση για περισσότερες από 1.000 γενετικές ασθένειες στο έμβρυο, συμπεριλαμβανομένων εκείνων που εντοπίζονται συχνότερα στον ελληνικό πληθυσμό, όπως η μεσογειακή αναιμία, η δρεπανοκυτταρική αναιμία, η κυστική ίνωση, η νωτιαία μυϊκή ατροφία και η κληρονομική κώφωση.
Σκοπός του τεστ PrenatalScreen®
Το PrenatalScreen® βασίζεται στην ανάλυση του εμβρυϊκού DNA, το οποίο εξάγεται είτε από τα εμβρυϊκά κύτταρα του αμνιακού υγρού που λαμβάνονται μέσω της αμνιοπαρακέντησης, είτε από τις χοριακές λάχνες που λαμβάνονται από το CVS. Σκοπός του γενετικού ελέγχου είναι να ανιχνευθούν στο έμβρυο τυχόν γενετικές ασθένειες, συμπεριλαμβανομένων εκείνων που παρατηρούνται συχνότερα στον ελληνικό πληθυσμό. Τα γονίδια που αναλύονται επιλέχθηκαν με βάση τη συχνότητα των ασθενειών που προκαλούνται από μεταλλάξεις στα γονίδια αυτά, την βαρύτητα του κλινικού φαινοτύπου κατά τη γέννηση και την συσχέτισή τους με πιθανές παθογένειες, ακολουθώντας τις οδηγίες του Αμερικανικού Κολεγίου Ιατρικής Γενετικής (ACMG).
Σε ποιους απευθύνεται το τεστ PrenatalScreen®;
To PrenatalScreen® ενδείκνυται στις ακόλουθες περιπτώσεις:
- Όταν υπάρχει προσωπικό ή οικογενειακό ιστορικό κληρονομικών γενετικών ασθενειών
- Στα ζευγάρια που επιθυμούν να μειώσουν τον κίνδυνο γέννησης παιδιού με γενετική διαταραχή
- Σε κυήσεις που έχουν επιτευχθεί είτε μετά από φυσική σύλληψη, είτε μέσω ιατρικώς υποβοηθούμενης αναπαραγωγής (IVF) ή/και με χρήση δότη σπερματοζωαρίων ή δότριας ωαρίων.
Πώς γίνεται το τεστ PrenatalScreen®;
Ο γενετικός έλεγχος πραγματοποιείται με την απομόνωση DNA από τα εμβρυϊκά κύτταρα. Ακολουθεί ενίσχυση των κωδικοποιουσών περιοχών των γονιδίων με την τεχνική PCR. Στη συνέχεια, μέσω της αλληλούχισης νέας γενιάς (Next Generation Sequencing, NGS) και του κατάλληλου εξοπλισμού της ILLUMINA αναλύεται η αλληλουχία 774 γονιδίων (εξώνια και παρακείμενες ιντρονικές περιοχές, ± 5 νουκλεοτίδια) με υψηλό βάθος ανάγνωσης.
Η ανάλυση των αποτελεσμάτων με τη χρήση προηγμένων προγραμμάτων βιοπληροφορικής προσδιορίζει την πιθανή παρουσία μεταλλάξεων στα υπό μελέτη γονίδια.
Ακρίβεια των αποτελεσμάτων του τεστ PrenatalScreen®
Οι τρέχουσες τεχνικές ανάλυσης της αλληλουχίας του DNA δίνουν αποτελέσματα με ακρίβεια μεγαλύτερη του 99%. Παρά το γεγονός ότι η συγκεκριμένη ανάλυση είναι πολύ ακριβής, θα πρέπει πάντα να λαμβάνονται υπόψη οι περιορισμοί της μεθόδου.
Είδος δείγματος: Κύτταρα αμνιακού υγρού ή χοριακών λαχνών
Χρόνος απάντησης: 3-4 εβδομάδες
ΑΣΘΕΝΕΙΑ | ΟΜΙΜ | ΓΟΝΙΔΙΟ |
17-alpha-hydroxylase/17,20-lyase deficiency | 202110 | CYP17A1 |
17-beta-hydroxysteroid dehydrogenase X deficiency | 300438 | HSD17B10 |
3-beta-hydroxysteroid dehydrogenase, type II, deficiency | 201810 | HSD3B2 |
3-hydroxy-3-methylglutaric aciduria | 246450 | HMGCL |
3-methylglutaconic aciduria type 1 | 250950 | AUH |
3-methylglutaconic aciduria type 3 (AR optic atrophy-3 or optic atrophy plus syndrome) | 258501 | OPA3 |
3-methylglutaconic aciduria, type V | 610198 | DNAJC19 |
46XY sex reversal 3 | 612965 | NR5A1 |
4-hydroxybutyric aciduria | 271980 | ALDH5A1 |
ABCD syndrome | 600501 | EDNRB |
Acampomelic campomelic dysplasia | 114290 | SOX9 |
Achalasia-addisonianism-alacrimia syndrome | 231550 | AAAS |
Achondrogenesis type 1B | 600972 | SLC26A2 |
Achondrogenesis, type IA | 200600 | TRIP11 |
Achondrogenesis, type II or hypochondrogenesis | 200610 | COL2A1 |
Achondroplasia | 100800 | FGFR3 |
Acyl-CoA dehydrogenase 9 deficiency | 611126 | ACAD9 |
Adenylosuccinase deficiency | 103050 | ADSL |
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | 202010 | CYP11B1 |
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | 613743 | CYP11A1 |
Adrenoleukodystrophy | 300100 | ABCD1 |
Aicardi-Goutieres syndrome 2 | 610181 | RNASEH2B |
Aicardi-Goutieres syndrome 3 | 610329 | RNASEH2C |
Aicardi-Goutieres syndrome 4 | 610333 | RNASEH2A |
Aicardi-Goutieres syndrome 5 | 612952 | SAMHD1 |
Aicardi-Goutieres syndrome 6 | 615010 | ADAR |
Alagille syndrome | 118450 | JAG1 |
Allan-Herndon-Dudley syndrome | 300523 | SLC16A2 |
Alpha-methylacyl-Coa Racemase deficiency | 614307 | AMACR |
Alpha-thalassemia (HBA1) | 604131 | HBA1 |
Alpha-thalassemia (HBA2) | 604131 | HBA2 |
Alpha-thalassemia/mental retardation syndrome | 301040 | ATRX |
Alport syndrome autosomal recessive (COL4A3) | 203780 | COL4A3 |
Alport syndrome autosomal recessive (COL4A4) | 203780 | COL4A4 |
Alport syndrome X-Linked | 301050 | COL4A5 |
Alström syndrome | 203800 | ALMS1 |
Aminoacylase 1 deficiency | 609924 | ACY1 |
Amish infantile epilepsy syndrome | 609056 | ST3GAL5 |
Anauxetic dysplasia | 607095 | RMRP |
Angelman syndrome | 105830 | UBE3A |
Antenatal Bartter syndrome type 1 | 601678 | SLC12A1 |
Antenatal Bartter syndrome type 2 | 241200 | KCNJ1 |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | POR |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | FGFR2 |
Apert syndrome | 101200 | FGFR2 |
Aplasia/hypoplasia of limbs and pelvis | 276820 | WNT7A |
Apparent mineralocorticoid excess | 218030 | HSD11B2 |
Argininemia | 207800 | ARG1 |
Argininosuccinic aciduria | 207900 | ASL |
Aromatic L-amino acid decarboxylase deficiency | 608643 | DDC |
Arthrogryposis – renal dysfunction – cholestasis | 208085 | VPS33B |
Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 | VIPAR |
Ataxia – oculomotor apraxia type 1 | 208920 | APTX |
Ataxia with vitamin E deficiency | 277460 | TTPA |
Ataxia-oculomotor apraxia 4 | 616267 | PNKP |
Ataxia-telangiectasia | 208900 | ATM |
Atelosteogenesis type II | 256050 | SLC26A2 |
Atrial septal defect 2 | 607941 | GATA4 |
Atrial septal defect 4 | 611363 | TBX20 |
Atrial septal defect 6 | 613087 | TLL1 |
Atrial septal defect 7, with or without AV conduction defects | 108900 | NKX2-5 |
Atrial septal defect 8 | 614433 | CITED2 |
Atrial septal defect 9 | 614475 | GATA6 |
Atrioventricular septal defect 3 | 600309 | GJA1 |
Atrioventricular septal defect 4 | 614430 | GATA4 |
Atrioventricular septal defect 5 | 614474 | GATA6 |
Atrioventricular septal defect, partial, with heterotaxy syndrome | 606217 | CRELD1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2K | 607831 | GDAP1 |
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | 607706 | GDAP1 |
Autosomal recessive dopa-responsive dystonia | 605407 | TH |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | 608340 | GDAP1 |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 607155 | FKRP |
Autosomal recessive malignant osteopetrosis 1 | 259700 | TCIRG1 |
Autosomal recessive malignant osteopetrosis 4 | 611490 | CLCN7 |
Autosomal recessive polycystic kidney disease | 263200 | PKHD1 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay | 270550 | SACS |
Baraitser-Winter syndrome 2 | 614583 | ACTG1 |
Bardet-Biedl syndrome 1 | 209900 | BBS1 |
Bardet-Biedl syndrome 10 | 615987 | BBS10 |
Bardet-Biedl syndrome 11 | 615988 | TRIM32 |
Bardet-Biedl syndrome 13 | 615990 | MKS1 |
Bardet-Biedl syndrome 16 | 615993 | SDCCAG8 |
Bardet-Biedl syndrome 2 | 615981 | BBS2 |
Bardet-Biedl syndrome 3 | 600151 | ARL6 |
Bardet-Biedl syndrome 6 | 605231 | MKKS |
Bardet-Biedl syndrome 9 | 615986 | BBS9 (PTHB1) |
Bartter syndrome, type 4a | 602522 | BSND |
Beare-Stevenson cutis gyrata syndrome | 123790 | FGFR2 |
Becker muscular dystrophy | 300376 | DMD |
Beckwith-Wiedemann syndrome | 130650 | CDKN1C |
Beckwith-Wiedemann syndrome | 130650 | NSD1 |
Bent bone dysplasia syndrome | 614592 | FGFR2 |
Bestrophinopathy, autosomal recessive | 611809 | BEST1 |
Beta-thalassemia | 613985 | HBB |
Bifunctional enzyme deficiency | 261515 | HSD17B4 |
Biotinidase deficiency | 253260 | BTD |
Bj?rnstad syndrome | 262000 | BCS1L |
Bloom syndrome | 210900 | BLM |
Borjeson-Forssman-Lehmann syndrome | 301900 | PHF6 |
Brachiootic syndrome 3 | 608389 | SIX1 |
Brachytelephalangic chondrodysplasia punctata | 302950 | ARSE |
Brittle cornea syndrome | 229200 | ZNF469 |
Caffey disease | 114000 | COL1A1 |
Campomelic dysplasia | 114290 | SOX9 |
Campomelic dysplasia with autosomal sex reversal | 114290 | SOX9 |
Canavan disease | 271900 | ASPA |
Carbamoylphosphate synthetase deficiency | 237300 | CPS1 |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 604377 | SCO2 |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | COX15 |
Cardiofaciocutaneous syndrome | 115150 | BRAF |
Cardiofaciocutaneous syndrome 2 | 615278 | KRAS |
Cardiofaciocutaneous syndrome 3 | 615279 | MAP2K1 |
Cardiofaciocutaneous syndrome 4 | 615280 | MAP2K2 |
Carnitine deficiency, systemic primary | 212140 | SLC22A5 |
Carnitine palmitoyl transferase 1A deficiency | 255120 | CPT1A |
Carnitine palmitoyl transferase II deficiency, infantile form | 600649 | CPT2 |
Carnitine palmitoyl transferase II deficiency, neonatal form | 608836 | CPT2 |
Carnitine-acylcarnitine translocase deficiency | 212138 | SLC25A20 |
Carpenter syndrome | 201000 | RAB23 |
Cartilage-hair hypoplasia | 250250 | RMRP |
Cataract – intellectual deficit – hypogonadism_ Martsolf syndrome | 212720 | RAB3GAP2 |
Cataract 40, X-linked | 302200 | NHS |
CATSHL syndrome | 610474 | FGFR3 |
Cerebellar ataxia – intellectual deficit – dysequilibrium syndrome | 224050 | VLDLR |
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome | 609528 | SNAP29 |
Cerebrotendinous xanthomatosis | 213700 | CYP27A1 |
Ceroid lipofuscinosis, neuronal, 1 | 256730 | PPT1 |
Ceroid lipofuscinosis, neuronal, 10 | 610127 | CTSD |
Ceroid lipofuscinosis, neuronal, 2 | 204500 | TPP1 |
Ceroid lipofuscinosis, neuronal, 7 | 610951 | MFSD8 |
Charcot-Marie-Tooth disease, recessive intermediate C | 615376 | PLEKHG5 |
Charcot-Marie-Tooth disease, type 4A | 214400 | GDAP1 |
Charcot-Marie-Tooth disease, type 4B1 | 601382 | MTMR2 |
Charcot-Marie-Tooth disease, type 4B2 | 604563 | SBF2 |
Charcot-Marie-Tooth disease, type 4C | 601596 | SH3TC2 |
Charcot-Marie-Tooth disease, type 4D | 601455 | NDRG1 |
Charcot-Marie-Tooth disease, type 4F | 614895 | PRX |
Charcot-Marie-Tooth disease, type 4H | 609311 | FGD4 |
Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 | PRPS1 |
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | 302800 | GJB1 (CX32) |
CHARGE syndrome | 214800 | CHD7 |
CHARGE syndrome | 214800 | SEMA3E |
Chediak-Higashi syndrome | 214500 | LYST |
CHILD syndrome | 308050 | NSDHL |
Chondrodysplasia punctata, rhizomelic, type 1 | 215100 | PEX7 |
Chondrodysplasia, Blomstrand type | 215045 | PTH1R |
Ciliary dyskinesia, primary, 1 | 244400 | DNAI1 |
Ciliary dyskinesia, primary, 3 | 608644 | DNAH5 |
Citrullinemia type I | 215700 | ASS1 |
CK syndrome | 300831 | NSDHL |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 201910 | CYP21A2 |
Classic galactosemia | 230400 | GALT |
Classical homocystinuria | 236200 | CBS |
COACH syndrome | 216360 | CC2D2A |
COACH syndrome | 216360 | RPGRIP1L |
COACH syndrome | 216360 | TMEM67 |
Cockayne syndrome type A | 216400 | ERCC8 |
Cockayne syndrome type B | 133540 | ERCC6 |
Coenzyme Q10 deficiency, primary, 1 | 607426 | COQ2 |
Coenzyme Q10 deficiency, primary, 2- Deafness – encephaloneuropathy – obesity – valvulopathy | 614651 | PDSS1 |
Coenzyme Q10 deficiency, primary, 3- Leigh syndrome with nefrotic syndrome | 614652 | PDSS2 |
Coenzyme Q10 deficiency, primary, 4 | 612016 | ADCK3 |
Coenzyme Q10 deficiency, primary, 5 | 614654 | COQ9 |
Coffin-Lowry syndrome | 303600 | RPS6KA3 |
COFS syndrome 1 | 214150 | ERCC6 |
Cohen Syndrome type 1 | 216550 | VPS13B |
Combined immunodeficiency with skin granulomas (gene RAG1) | 233650 | RAG1 |
Combined immunodeficiency with skin granulomas (gene RAG2) | 233650 | RAG2 |
Combined oxidative phosphorylation defect type 2 | 610498 | MRPS16 |
Combined oxidative phosphorylation defect type 5 | 611719 | MRPS22 |
Combined oxidative phosphorylation deficiency 4 | 610678 | TUFM |
Combined oxidative phosphorylation deficiency 6 | 300816 | AIFM1 |
Combined pituitary hormone deficiencies, genetic forms | 262600 | PROP1 |
Combined pituitary hormone deficiency with spine abnormalities | 221750 | LHX3 |
Combined SAP deficiency | 611721 | PSAP |
Complete androgen insensitivity syndrome | 300068 | AR |
Cone-rod dystrophy 13 | 608194 | RPGRIP1 |
Cone-rod dystrophy 3 | 604116 | ABCA4 |
Cone-rod dystrophy 6 | 601777 | GUCY2D |
Cone-rod retinal dystrophy-2 | 120970 | CRX |
Congenital bile acid synthesis defect type 4 | 214950 | AMACR |
Congenital disorder of glycosylation type Ia | 212065 | PMM2 |
Congenital disorder of glycosylation type Ib | 602579 | MPI |
Congenital disorder of glycosylation type Ic | 603147 | ALG6 |
Congenital disorder of glycosylation type Ie | 608799 | DPM1 |
Congenital disorder of glycosylation type IIa | 212066 | MGAT2 |
Congenital disorder of glycosylation type IIc | 266265 | SLC35C1 |
Congenital disorder of glycosylation type IId | 607091 | B4GALT1 |
Congenital disorder of glycosylation type IIf | 603585 | SLC35A1 |
Congenital disorder of glycosylation type Ij | 608093 | DPAGT1 |
Congenital disorder of glycosylation type Ik | 608540 | ALG1 |
Congenital disorder of glycosylation, type Id | 601110 | ALG3 |
Congenital disorder of glycosylation, type If | 609180 | MPDU1 |
Congenital disorder of glycosylation, type Ig | 607143 | ALG12 |
Congenital disorder of glycosylation, type Ih | 608104 | ALG8 |
Congenital disorder of glycosylation, type Ii | 607906 | ALG2 |
Congenital disorder of glycosylation, type IIb | 606056 | MOGS |
Congenital disorder of glycosylation, type IIe | 608779 | COG7 |
Congenital disorder of glycosylation, type IIg | 611209 | COG1 |
Congenital disorder of glycosylation, type IIh | 611182 | COG8 |
Congenital disorder of glycosylation, type IIi | 613612 | COG5 |
Congenital disorder of glycosylation, type IIj | 613489 | COG4 |
Congenital disorder of glycosylation, type IIj | 613489 | TMEM165 |
Congenital disorder of glycosylation, type IIl | 614576 | COG6 |
Congenital disorder of glycosylation, type Il | 608776 | ALG9 |
Congenital disorder of glycosylation, type Im | 610768 | DOLK (TMEM15) |
Congenital disorder of glycosylation, type In | 612015 | RFT1 |
Congenital disorder of glycosylation, type Io | 612937 | DPM3 |
Congenital disorder of glycosylation, type Ip | 613661 | ALG11 |
Congenital disorder of glycosylation, type Iq | 612379 | SRD5A3 |
Congenital disorder of glycosylation, type Is | 300884 | ALG13 |
Congenital disorder of glycosylation, type It | 614921 | PGM1 |
Congenital heart defects, nonsyndromic, 1, X-linked | 306955 | ZIC3 |
Congenital lipoid adrenal hyperplasia | 201710 | STAR |
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Diarrhea 4, malabsorptive, congenital | 610370 | NEUROG3 |
Congenital muscular dystrophy type 1A | 607855 | LAMA2 |
Congenital muscular dystrophy type 5B | 606612 | FKRP |
Congenital myopathy with excess of muscle spindles | 218040 | HRAS |
Conotruncal anomaly face syndrome | 217095 | TBX1 |
Conotruncal heart malformations, variable | 217095 | NKX2-5 |
Cornelia de Lange syndrome 1 | 122470 | NIPBL |
Cornelia de Lange syndrome 2 | 300590 | SMC1A |
Cornelia de Lange syndrome 3 | 610759 | SMC3 |
Cornelia de Lange syndrome 4 | 614701 | RAD21 |
Cornelia de Lange syndrome 5 | 300882 | HDAC8 |
Corpus callosum agenesis – neuronopathy | 218000 | SLC12A6 |
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity- hydrocephalus syndrome | 307000 | L1CAM |
Corpus callosum, agenesis of, with mental retardation | 300472 | IGBP1 |
Costello syndrome | 218040 | HRAS |
Craniofacial-deafness-hand syndrome | 122880 | PAX3 |
Craniofacial-skeletal-dermatologic dysplasia- Pfeiffer syndrome | 101600 | FGFR2 |
Craniofrontonasal dysplasia | 304110 | EFNB1 |
Craniosynostosis, type 1 | 123100 | TWIST1 |
Crouzon syndrome | 123500 | FGFR2 |
Crouzon syndrome with acanthosis nigricans | 612247 | FGFR3 |
Cutis laxa, autosomal recessive, type IIA | 219200 | ATP6V0A2 |
Cystic fibrosis; mucoviscidosis | 219700 | CFTR |
Cystinosis | 219800 | CTNS |
Danon disease | 300257 | LAMP2 |
Deafness, autosomal dominant 11 | 601317 | MYO7A |
Deafness, autosomal dominant 13 | 601868 | COL11A2 |
Deafness, autosomal dominant 3B | 612643 | GJB6 |
Deafness, autosomal dominant type 1 | 124900 | DIAPH1 |
Deafness, autosomal dominant type 12 | 601543 | TECTA |
Deafness, autosomal dominant type 15 | 602459 | POU4F3 |
Deafness, autosomal dominant type 20 | 604717 | ACTG1 |
Deafness, autosomal dominant type 22 | 606346 | MYO6 |
Deafness, autosomal dominant type 23 | 605192 | SIX1 |
Deafness, autosomal dominant type 25 | 605583 | SLC17A8 |
Deafness, autosomal dominant type 28 | 608641 | GRHL2 |
Deafness, autosomal dominant type 2A | 600101 | KCNQ4 |
Deafness, autosomal dominant type 2B | 612644 | GJB3 |
Deafness, autosomal dominant type 36 | 606705 | TMC1 |
Deafness, autosomal dominant type 4 | 600652 | MYH14 |
Deafness, autosomal dominant type 40 | 616357 | CRYM |
Deafness, autosomal dominant type 48 | 607841 | MYO1A |
Deafness, autosomal dominant type 5 | 600994 | DFNA5 |
Deafness, autosomal dominant type 50 | 613074 | MIR96 |
Deafness, autosomal dominant type 6 | 600965 | WFS1 |
Deafness, autosomal dominant type 64 | 614152 | DIABLO |
Deafness, autosomal dominant type 9 | 601369 | COCH |
Deafness, autosomal recessive 12 | 601386 | CDH23 |
Deafness, autosomal recessive 15 | 601869 | GIPC3 |
Deafness, autosomal recessive 18A | 602092 | USH1C |
Deafness, autosomal recessive 1A | 220290 | GJB2 |
Deafness, autosomal recessive 1B | 612645 | GJB6 |
Deafness, autosomal recessive 2 | 600060 | MYO7A |
Deafness, autosomal recessive 21 | 603629 | TECTA |
Deafness, autosomal recessive 22 | 607039 | OTOA |
Deafness, autosomal recessive 23 | 609533 | PCDH15 |
Deafness, autosomal recessive 29 | 614035 | CLDN14 |
Deafness, autosomal recessive 37 | 607821 | MYO6 |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 600791 | SLC26A4 |
Deafness, autosomal recessive 53 | 609706 | COL11A2 |
Deafness, autosomal recessive 7 | 600974 | TMC1 |
Deafness, autosomal recessive 9 | 601071 | OTOF |
Dent disease 2 | 300555 | OCRL |
Desmosterolosis | 602398 | DHCR24 |
Diarrhea 1, secretory chloride, congenital | 214700 | SLC26A3 |
Diarrhea 3, secretory sodium, congenital, syndromic | 270420 | SPINT2 |
Diarrhea 5, with tufting enteropathy, congenital | 613217 | EPCAM |
Diastrophic dwarfism | 222600 | SLC26A2 |
DiGeorge syndrome | 188400 | TBX1 |
Dihydropyrimidine dehydrogenase deficiency | 274270 | DPYD |
Donnai-Barrow syndrome | 222448 | LRP2 |
Double-outlet right ventricle | 217095 | CFC1 |
Double-outlet right ventricle | 217095 | GDF1 |
Duchenne muscular dystrophy | 310200 | DMD |
Dyskeratosis congenita X-linked | 305000 | DKC1 |
Dystrophic epidermolysis bullosa pruriginosa | 604129 | COL7A1 |
Ectodermal dysplasia, hypohidrotic, with immune deficiency | 300291 | IKBKG |
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency | 300301 | IKBKG |
Ehlers-Danlos syndrome type 6 (kyphoscoliotic type) | 225400 | PLOD1 |
Ehlers-Danlos syndrome, cardiac valvular form | 225320 | COL1A2 |
Ehlers-Danlos syndrome, classic type | 130000 | COL1A1 |
Ehlers-Danlos syndrome, classic type (COL5A1) | 130000 | COL5A1 |
Ehlers-Danlos syndrome, classic type (COL5A2) | 130000 | COL5A2 |
Ehlers-Danlos syndrome, type III (hypermobile type) | 130020 | COL3A1 |
Ehlers-Danlos syndrome, type IV (vascular type) | 130050 | COL3A1 |
Ehlers-Danlos syndrome, type VIIA | 130060 | COL1A1 |
Ehlers-Danlos syndrome, type VIIB | 130060 | COL1A2 |
Eiken syndrome | 600002 | PTH1R |
Ellis-van Creveld syndrome | 225500 | EVC2 |
elocardiofacial syndrome | 192430 | TBX1 |
Encephalopathy, neonatal severe | 300673 | MECP2 |
Epidermolysis bullosa simplex with muscular dystrophy | 226670 | PLEC |
Epidermolysis bullosa simplex with pyloric atresia | 612138 | PLEC |
Epilepsy, progressive myoclonic 2A (Lafora) | 254780 | EPM2A |
Epilepsy, progressive myoclonic 2B (Lafora) | 254780 | NHLRC1 |
Epilepsy, pyridoxine-dependent | 266100 | ALDH7A1 |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 300491 | SYN1 |
Epileptic encephalopathy, early infantile, 1 | 308350 | ARX |
Epileptic encephalopathy, early infantile, 12 | 613722 | PLCB1 |
Epileptic encephalopathy, early infantile, 15 | 615006 | ST3GAL3 |
Epileptic encephalopathy, early infantile, 2 | 300672 | CDKL5 |
Epileptic encephalopathy, early infantile, 3 | 609304 | SLC25A22 |
Epileptic encephalopathy, early infantile, 8 | 300607 | ARHGEF9 |
Epileptic encephalopathy, early infantile, 9 | 300088 | PCDH19 |
Epiphyseal dysplasia, multiple 1 | 132400 | COMP |
Epiphyseal dysplasia, multiple, with myopia and deafness | 132450 | COL2A1 |
Escobar syndrome | 265000 | CHRNG |
Ethylmalonic encephalopathy | 602473 | ETHE1 |
Exudative vitreoretinopathy 2, X-linked | 305390 | NDP |
Fabry disease | 301500 | GLA |
Familial dysautonomia | 223900 | IKBKAP |
Familial Mediterranean fever | 249100 | MEFV |
Fanconi anemia complementation group C | 227645 | FANCC |
Fanconi anemia, complementation group A | 227650 | FANCA |
Fanconi anemia, complementation group B | 300514 | FANCB |
Fanconi anemia, complementation group G | 614082 | FANCG |
Fatal infantile lactic acidosis with methylmalonic aciduria | 245400 | SUCLG1 |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | 610505 | TSFM |
Fetal akinesia deformation sequence | 208150 | DOK7 |
Fetal akinesia deformation sequence | 208150 | RAPSN |
Fetal Gaucher disease | 608013 | GBA |
FG syndrome 4 | 300422 | CASK |
Fibrochondrogenesis 1 | 228520 | COL11A1 |
Fibrochondrogenesis 2 | 614524 | COL11A2 |
Fibular hypoplasia or aplasia – femoral bowing – oligodactyly | 228930 | WNT7A |
Focal cortical dysplasia, Taylor balloon cell type | 607341 | TSC1 |
Fraser syndrome (gene FRAS1) | 219000 | FRAS1 |
Fraser syndrome (gene FREM2) | 219000 | FREM2 |
Free sialic acid storage disease, infantile form | 269920 | SLC17A5 |
French-Canadian type Leigh syndrome | 220111 | LRPPRC |
Frontometaphyseal dysplasia | 305620 | FLNA |
Fucosidosis | 230000 | FUCA1 |
Fumaric aciduria | 606812 | FH |
Galactokinase deficiency with cataracts | 230200 | GALK1 |
Galactose epimerase deficiency | 230350 | GALE |
Gaucher disease type 2 | 230900 | GBA |
Gaucher disease type 3 | 231000 | GBA |
Gaucher disease type 3C | 231005 | GBA |
Geleophysic dysplasia 1 | 231050 | ADAMTSL2 |
Generalized junctional epidermolysis bullosa, non-Herlitz type | 226650 | COL17A1 |
Glutaric acidemia type 2 | 231680 | ETFA |
Glutaric acidemia type 2 | 231680 | ETFB |
Glutaric acidemia type 2 | 231680 | ETFDH |
Glutaryl-CoA dehydrogenase deficiency | 231670 | GCDH |
Glutathione synthetase deficiency with 5-oxoprolinuria | 266130 | GSS |
Glycine encephalopathy | 605899 | AMT |
Glycine encephalopathy | 605899 | GCSH |
Glycine encephalopathy | 605899 | GLDC |
Glycogen storage disease due to acid maltase deficiency | 232300 | GAA |
Glycogen storage disease due to glucose-6-phosphatase deficiency type 1a | 232200 | G6PC |
Glycogen storage disease due to glucose-6-phosphatase deficiency type b | 232220 | SLC37A4 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type c | 232240 | SLC37A4 |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | 232500 | GBE1 |
Glycogen storage disease due to glycogen debranching enzyme deficiency | 232400 | AGL |
GM1 gangliosidosis type 1 | 230500 | GLB1 |
GM1 gangliosidosis type 2 | 230600 | GLB1 |
GM1 gangliosidosis type 3 | 230650 | GLB1 |
GRACILE syndrome | 603358 | BCS1L |
Greenberg dysplasia | 215140 | LBR |
Griscelli disease type 1 | 214450 | MYO5A |
Griscelli disease type 2 | 607624 | RAB27A |
Guanidinoacetate methyltransferase deficiency | 612736 | GAMT |
HARP syndrome | 607236 | PANK2 |
Hemochromatosis, type 2A | 602390 | HFE2/HJV |
Hemochromatosis, type 2B | 613313 | HAMP |
Hemoglobin H disease, nondeletional | 613978 | HBA2 |
Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | PRF1 |
Hemophagocytic lymphohistiocytosis, familial, 3 | 608898 | UNC13D |
Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | STX11 |
Hemophagocytic lymphohistiocytosis, familial, 5 | 613101 | STXBP2 |
Hemophilia A | 306700 | F8 |
Hemophilia B | 306900 | F9 |
Hepatic venoocclusive disease with immunodeficiency | 235550 | SP110 |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | 609060 | GFM1 |
Hereditary fructose intolerance | 229600 | ALDOB |
Hermansky-Pudlak syndrome 1 | 203300 | HPS1 |
Hermansky-Pudlak syndrome 2 | 608233 | AP3B1 |
Hermansky-pudlak syndrome 9 | 614171 | PLDN |
Heterotaxy, visceral, 1, X-linked | 306955 | ZIC3 |
Heterotaxy, visceral, 5 | 270100 | NODAL |
Heterotopia, periventricular | 300049 | FLNA |
Holocarboxylase synthetase deficiency | 253270 | HLCS |
Holoprosencephaly-2 | 157170 | SIX3 |
Holoprosencephaly-3 | 142945 | SHH |
Holoprosencephaly-5 | 609637 | ZIC2 |
Holoprosencephaly-9 | 610829 | GLI2 |
Holt-Oram syndrome | 142900 | TBX5 |
Homocystinuria due to MTHFR deficienc | 236250 | MTHFR |
Hoyeraal-Hreidarsson syndrome | 300240 | DKC1 |
Hydrops fetalis, nonimmune (HBA1) | 236750 | HBA1 |
Hydrops fetalis, nonimmune (HBA2) | 236750 | HBA2 |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | 237310 | NAGS |
Hyper-IgE recurrent infection syndrome, autosomal recessive | 243700 | DOCK8 |
Hyperornithinemia-hyperammonemia-homocitrullinuria | 238970 | SLC25A15 |
Hyperphenylalaninemia, BH4-deficient, A | 261640 | PTS |
Hyperphenylalaninemia, BH4-deficient, C | 261630 | QDPR |
Hyperphenylalaninemia, BH4-deficient, D | 264070 | PCBD1 |
Hypochondroplasia | 146000 | FGFR3 |
Hypogonadotropic hypogonadism 5 | 612370 | CHD7 |
Hypomyelination – congenital cataract | 610532 | FAM126A |
Hypoparathyroidism – intellectual deficit – dysmorphism syndrome | 241410 | TBCE |
Hypophosphatemic rickets, AR | 241520 | DMP1 |
Hypophosphatemic rickets, autosomal recessive, 2 | 613312 | ENPP1 |
Hypoplastic left heart syndrome 1 | 241550 | GJA1 |
Hypoplastic left heart syndrome 2 | 614435 | NKX2-5 |
Hypothryoidism, congenital, nongoitrous 4 | 275100 | TSHB |
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | 218700 | PAX8 |
Hypothyroidism, congenital, nongoitrous, 5 | 225250 | NKX2-5 |
Hypothyroidism, congenital, nongoitrous, 6 | 614450 | THRA |
Ichthyosis follicularis – alopecia – photophobia | 308205 | MBTPS2 |
Ichthyosis, autosomal recessive 4B (harlequin) | 242500 | ABCA12 |
Ichthyosis, congenital, autosomal recessive 1 | 242300 | TGM1 |
Ichthyosis, congenital, autosomal recessive 4A | 601277 | ABCA12 |
IMAGE syndrome | 614732 | CDKN1C |
Immunodeficiency 17, CD3 gamma deficient | 615607 | CD3G |
Immunodeficiency 18, SCID variant | 615615 | CD3E |
Immunodeficiency 19 | 615617 | CD3D |
Immunodeficiency 27A, mycobacteriosis, AR | 209950 | IFNGR1 |
Immunodeficiency 28, mycobacteriosis | 614889 | IFNGR2 |
Immunodeficiency 33 | 300636 | IKBKG |
Immunodeficiency 35 | 611521 | TYK2 |
Immunodeficiency due to purine nucleoside phosphorylase deficiency | 613179 | PNP |
Immunodeficiency with hyper IgM, type 5 | 608106 | UNG |
Immunodeficiency with hyper-IgM, type 2 | 605258 | AICDA |
Immunodeficiency with hyper-IgM, type 3 | 606843 | CD40 |
Immunodeficiency, common variable, 1 | 607594 | ICOS |
Immunodeficiency, X-linked | 300853 | MAGT1 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 242860 | DNMT3B |
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | 304790 | FOXP3 |
Incontinentia pigmenti | 308300 | IKBKG |
Infantile bilateral striatal necrosis Striatonigral degeneration, infantile | 271930 | NUP62 |
Interleukin 1 receptor antagonist deficiency | 612852 | IL1RN |
Isolated CoQ-cytochrome C reductase deficiency Mitochondrial complex III deficiency, nuclear type 1 | 124000 | BCS1L |
Isolated growth hormone deficiency type III | 307200 | BTK |
Isovaleric acidemia | 243500 | IVD |
Jeune syndrome | 611263 | IFT80 |
Johanson-Blizzard syndrome | 243800 | UBR1 |
Joubert syndrome 1 | 213300 | INPP5E |
Joubert syndrome 10 | 300804 | OFD1 |
Joubert syndrome 15 | 614464 | CEP41 |
Joubert syndrome 2 | 608091 | TMEM216 |
Joubert syndrome 4 | 609583 | NPHP1 |
Joubert syndrome 5 | 610188 | CEP290 |
Joubert syndrome 6 | 610688 | TMEM67 |
Joubert syndrome 7 | 611560 | RPGRIP1L |
Joubert syndrome 8 | 612291 | ARL13B |
Joubert syndrome 9 | 612285 | CC2D2A |
Joubert syndrome with ocular defect Joubert syndrome-3 | 608629 | AHI1 |
Junctional epidermolysis bullosa – pyloric atresia | 226730 | ITGA6 |
Junctional epidermolysis bullosa – pyloric atresia | 226730 | ITGB4 |
Junctional epidermolysis bullosa, Herlitz type (gene LAMA3) | 226700 | LAMA3 |
Junctional epidermolysis bullosa, Herlitz type (gene LAMB3) | 226700 | LAMB3 |
Junctional epidermolysis bullosa, Herlitz type (gene LAMC2) | 226700 | LAMC2 |
Junctional epidermolysis bullosa, non Herlitz type (gene LAMA3) | 226650 | LAMA3 |
Junctional epidermolysis bullosa, non Herlitz type (gene LAMB3) | 226650 | LAMB3 |
Junctional epidermolysis bullosa, non Herlitz type (gene LAMC2) | 226650 | LAMC2 |
Junctional epidermolysis bullosa, non-Herlitz type | 226650 | ITGB4 |
Juvenile neuronal ceroid lipofuscinosis 3 | 204200 | CLN3 |
Kabuki syndrome 1 | 147920 | MLL2 (KMT2D) |
Kabuki syndrome 2 | 300867 | KDM6A |
Kahrizi syndrome | 612713 | SRD5A3 |
Kelley-Seegmiller syndrome | 300323 | HPRT1 |
Ketoacidosis due to beta-ketothiolase deficiency | 203750 | ACAT1 |
Kniest dysplasia | 156550 | COL2A1 |
Krabbe disease | 245200 | GALC |
Krabbe disease, atypical | 611722 | PSAP |
Lacticacidemia due to PDX1 deficiency | 245349 | PDHX |
Late infantile neuronal ceroid lipofuscinosis 5 | 256731 | CLN5 |
Late infantile neuronal ceroid lipofuscinosis 6 | 601780 | CLN6 |
Late infantile neuronal ceroid lipofuscinosis 8 | 600143 | CLN8 |
Lathosterolosis | 607330 | SC5DL |
Leber congenital amaurosis 1 | 204000 | GUCY2D |
Leber congenital amaurosis 10 | 611755 | CEP290 |
Leber congenital amaurosis 11 | 613837 | IMPDH1 |
Leber congenital amaurosis 13 | 612712 | RDH12 |
Leber congenital amaurosis 2 | 204100 | RPE65 |
Leber congenital amaurosis 4 | 604393 | AIPL1 |
Leber congenital amaurosis 6 | 613826 | RPGRIP1 |
Leber congenital amaurosis 7 | 613829 | CRX |
Leber congenital amaurosis 8 | 613835 | CRB1 |
Leber congenital amaurosis 9 | 608553 | NMNAT1 |
Leigh syndrome | 256000 | BCS1L |
Leigh syndrome | 256000 | NDUFA12 |
Leigh syndrome | 256000 | NDUFA2 |
Leigh syndrome | 256000 | NDUFA9 |
Leigh syndrome | 256000 | NDUFAF2 |
Leigh syndrome | 256000 | NDUFAF6 |
Leigh syndrome | 256000 | NDUFS4 |
Leigh syndrome | 256000 | NDUFS7 |
Leigh syndrome due to cytochrome c oxidase deficiency | 256000 | COX15 |
Leigh syndrome due to mitochondrial complex I deficiency | 256000 | FOXRED1 |
Leigh syndrome due to mitochondrial complex I deficiency | 256000 | NDUFS3 |
Leigh syndrome due to mitochondrial complex I deficiency | 256000 | NDUFS8 |
Leigh syndrome due to mitochondrial COX4 deficiency | 256000 | COX10 |
Leigh syndrome, due to COX deficiency | 256000 | SURF1 |
LEOPARD syndrome 1 | 151100 | PTPN11 |
LEOPARD syndrome 2 | 611554 | RAF1 |
LEOPARD syndrome 3 | 613707 | BRAF |
Lesch-Nyhan syndrome | 300322 | HPRT1 |
Lethal ataxia with deafness and optic atrophy | 301835 | PRPS1 |
Lethal congenital contractural syndrome 2 | 607598 | ERBB3 |
Lethal congenital contracture syndrome type 1 | 253310 | GLE1 |
Lethal osteosclerotic bone dysplasia | 259775 | FAM20C |
Leukocyte adhesion deficiency, type III | 612840 | FERMT3 |
Leukodystrophy, hypomyelinating, 11 | 616494 | POLR1C |
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 607694 | POLR3A |
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | 611105 | DARS2 |
Limb girdle dystrophy with epidermolysis bullosa simplex | 613723 | PLEC |
Lissencephaly 1 | 607432 | PAFAH1B1 |
Lissencephaly 2, Norman-Roberts type | 257320 | RELN |
Lissencephaly 3 | 611603 | TUBA1A |
Lissencephaly 5 | 615191 | LAMB1 |
Lissencephaly, X-linked | 300067 | DCX |
Lissencephaly, X-linked 2 | 300215 | ARX |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 609016 | HADH |
Mandibuloacral dysplasia with type B lipodystrophy | 608612 | ZMPSTE24 |
Mannosidosis, alpha-, types I and II | 248500 | MAN2B1 |
Maple syrup urine disease type III Dihydrolipoamide dehydrogenase deficiency | 246900 | DLD |
Maple syrup urine disease, type Ia | 248600 | BCKDHA |
Maple syrup urine disease, type Ib | 248600 | BCKDHB |
Maple syrup urine disease, type II | 248600 | DBT |
Marinesco-Sjögren syndrome | 248800 | SIL1 |
Marshall syndrome | 154780 | COL11A1 |
Masa syndrome | 303350 | L1CAM |
Meckel syndrome 2 | 603194 | TMEM216 |
Meckel syndrome 3 | 607361 | TMEM67 |
Meckel syndrome 4 | 611134 | CEP290 |
Meckel syndrome 6 | 612284 | CC2D2A |
Meckel syndrome 7 | 267010 | NPHP3 |
Meckel syndrome type 1 | 249000 | MKS1 |
Meckel syndrome, type 5 | 611561 | RPGRIP1L |
Medium chain acyl-CoA dehydrogenase deficiency | 201450 | ACADM |
Megalencephalic leukoencephalopathy with subcortical cysts | 604004 | MLC1 |
Melnick-Needles syndrome | 309350 | FLNA |
Menkes disease | 309400 | ATP7A |
Mental retardation and microcephaly and cerebellar hypoplasia | 300749 | CASK |
Mental retardation syndrome, X-linked, Siderius type | 300263 | PHF8 |
Mental retardation, autosomal dominant type 1 | 156200 | MBD5 |
Mental retardation, autosomal dominant type 12 | 614562 | ARID1B |
Mental retardation, autosomal dominant type 14 | 614607 | ARID1A |
Mental retardation, autosomal dominant type 15 | 614608 | SMARCB1 |
Mental retardation, autosomal dominant type 16 | 614609 | SMARCA4 |
Mental retardation, autosomal dominant type 20 | 613443 | MEF2C |
Mental retardation, autosomal dominant type 5 | 612621 | SYNGAP1 |
Mental retardation, autosomal dominant type 6 | 613970 | GRIN2B |
Mental retardation, autosomal dominant type 9 | 614255 | KIF1A |
Mental retardation, autosomal recessive 1 | 249500 | PRSS12 |
Mental retardation, autosomal recessive 12 | 611090 | ST3GAL3 |
Mental retardation, autosomal recessive 13 | 613192 | TRAPPC9 |
Mental retardation, autosomal recessive 15 | 614202 | MAN1B1 |
Mental retardation, autosomal recessive 18 | 614249 | MED23 |
Mental retardation, autosomal recessive 2 | 607417 | CRBN |
Mental retardation, autosomal recessive 3 | 608443 | CC2D1A |
Mental retardation, autosomal recessive 34 | 614499 | CRADD |
Mental retardation, autosomal recessive 39 | 615541 | TTI2 |
Mental retardation, autosomal recessive 46 | 616116 | NDST1 |
Mental retardation, autosomal recessive 47 | 616193 | FMN2 |
Mental retardation, autosomal recessive 5 | 611091 | NSUN2 |
Mental retardation, autosomal recessive 7 | 611093 | TUSC3 |
Mental retardation, autosomal recessive, 6 | 611092 | GRIK2 |
Mental retardation, truncal obesity, retinal dystrophy, and micropenis | 610156 | INPP5E |
Mental retardation, with or without nystagmus-FG syndrome 4 | 300422 | CASK |
Mental retardation, X-linked 1 | 309530 | IQSEC2 |
Mental retardation, X-linked 19 | 300844 | RPS6KA3 |
Mental retardation, X-linked 21/34 | 300143 | IL1RAPL1 |
Mental retardation, X-linked 29 and others | 300419 | ARX |
Mental retardation, X-linked 30/47 | 300558 | PAK3 |
Mental retardation, X-linked 41 | 300849 | GDI1 |
Mental retardation, X-linked 45 | 300498 | ZNF81 |
Mental retardation, X-linked 46 | 300436 | ARHGEF6 |
Mental retardation, X-linked 58 | 300210 | TSPAN7 |
Mental retardation, X-linked 63 | 300387 | ACSL4 |
Mental retardation, X-linked 72 | 300271 | RAB39B |
Mental retardation, X-linked 9 | 309549 | FTSJ1 |
Mental retardation, X-linked 91 | 300577 | ZDHHC15 |
Mental retardation, X-linked 93 | 300659 | BRWD3 |
Mental retardation, X-linked 94 | 300699 | GRIA3 |
Mental retardation, X-linked 96 | 300802 | SYP |
Mental retardation, X-linked 97 | 300803 | ZNF711 |
Mental retardation, X-linked 98 | 300912 | KIAA2022 |
Mental retardation, X-linked 99 | 300919 | USP9X |
Mental retardation, X-linked syndromic 5 | 304340 | AP1S2 |
Mental retardation, X-linked syndromic, Christianson type | 300243 | SLC9A6 |
Mental retardation, X-linked syndromic, Lubs type | 300260 | MECP2 |
Mental retardation, X-linked syndromic, Nascimento-type | 300860 | UBE2A |
Mental retardation, X-linked syndromic, Raymond type | 300799 | ZDHHC9 |
Mental retardation, X-linked syndromic, Turner type | 300706 | HUWE1 |
Mental retardation, X-linked, Snyder-Robinson type | 309583 | SMS |
Mental retardation, X-linked, syndromic 13 | 300055 | MECP2 |
Mental retardation, X-linked, syndromic 14 | 300676 | UPF3B |
Mental retardation, X-linked, syndromic 15 (Cabezas type) | 300354 | CUL4B |
Mental retardation, X-linked, syndromic, Claes-Jensen type | 300534 | KDM5C |
Mental retardation, X-linked, syndromic, Hedera type | 300423 | ATP6AP2 |
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | 300486 | OPHN1 |
Mental retardation-hypotonic facies syndrome, X-linked | 309580 | ATRX |
Metachromatic leukodystrophy | 250100 | ARSA |
Metachromatic leukodystrophy due to SAP-b deficiency | 249900 | PSAP |
Metaphyseal chondrodysplasia, Murk Jansen type | 156400 | PTH1R |
Metaphyseal dysplasia without hypotrichosis | 250460 | RMRP |
Methylmalonic acidemia with homocystinuria, type cblC | 277400 | MMACHC |
Methylmalonic acidemia with homocystinuria, type cblD | 277410 | MMADHC |
Mevalonic aciduria | 610377 | MVK |
Microcephaly 5, primary, autosomal recessive | 608716 | ASPM |
Microcephaly, postnatal progressive, with seizures and brain atrophy | 613668 | MED17 |
Microcephaly, seizures, and developmental delay | 613402 | PNKP |
Microphthalmia with coloboma 5 | 611638 | SHH |
Microphthalmia, syndromic 2 (OCULOFACIOCARDIODENTAL SYNDROME) | 300166 | BCOR |
Microphthalmia, syndromic 7 | 309801 | HCCS |
Mitochondrial complex I deficiency | 252010 | NDUFA1 |
Mitochondrial complex I deficiency | 252010 | NDUFA11 |
Mitochondrial complex I deficiency | 252010 | NDUFAF1 |
Mitochondrial complex I deficiency | 252010 | NDUFAF2 |
Mitochondrial complex I deficiency | 252010 | NDUFAF3 |
Mitochondrial complex I deficiency | 252010 | NDUFAF4 |
Mitochondrial complex I deficiency | 252010 | NDUFAF5 |
Mitochondrial complex I deficiency | 252010 | NDUFB3 |
Mitochondrial complex I deficiency | 252010 | NDUFS1 |
Mitochondrial complex I deficiency | 252010 | NDUFS2 |
Mitochondrial complex I deficiency | 252010 | NDUFS3 |
Mitochondrial complex I deficiency | 252010 | NDUFS4 |
Mitochondrial complex I deficiency | 252010 | NDUFS6 |
Mitochondrial complex I deficiency | 252010 | NDUFV1 |
Mitochondrial complex II deficiency | 252011 | SDHAF1 |
Mitochondrial complex IV deficiency | 220110 | COX6B1 |
Mitochondrial complex IV deficiency | 220110 | FASTKD2 |
Mitochondrial complex IV deficiency | 220110 | TACO1 |
Mitochondrial complex IV deficiency | 220110 | COX10 |
Mitochondrial complex IV deficiency | 220110 | SCO1 |
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 604273 | ATPAF2 |
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 614052 | TMEM70 |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | TYMP |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | SUCLA2 |
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | 612075 | RRM2B |
Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 612075 | RRM2B |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 3 | 251880 | DGUOK |
Mitochondrial DNA depletion syndrome, myopathic form | 609560 | TK2 |
Mitochondrial respiratory chain complex III deficiency | 124000 | UQCRB |
Mitochondrial respiratory chain complex III deficiency | 124000 | UQCRQ |
Mitochondrial trifunctional protein deficiency | 609015 | HADHA |
Mitochondrial trifunctional protein deficiency | 609015 | HADHB |
Miyoshi muscular dystrophy 1 | 254130 | DYSF |
Mohr-Tranebjaerg syndrome | 304700 | TIMM8A |
Molybdenum cofactor deficiency A | 252150 | MOCS1 |
Molybdenum cofactor deficiency B | 252160 | MOCS2 |
Molybdenum cofactor deficiency C | 615501 | GPHN |
Mowat-Wilson syndrome | 235730 | ZEB2 |
Mucolipidosis type 2 | 252500 | GNPTAB |
Mucolipidosis type 3 | 252600 | GNPTAB |
Mucolipidosis type 4 | 252650 | MCOLN1 |
Mucopolysaccharidosis Ih | 607014 | IDUA |
Mucopolysaccharidosis Ih/s | 607015 | IDUA |
Mucopolysaccharidosis Is | 607016 | IDUA |
Mucopolysaccharidosis type 2 | 309900 | IDS |
Mucopolysaccharidosis type 3A (Sanfilippo syndrome type A) | 252900 | SGSH |
Mucopolysaccharidosis type 4B (Morquio) | 253010 | GLB1 |
Mucopolysaccharidosis type 6 (Maroteaux-Lamy) | 253200 | ARSB |
Mucopolysaccharidosis type 7 | 253220 | GUSB |
Mucopolysaccharidosis type IIIB (Sanfilippo B) | 252920 | NAGLU |
Mucopolysaccharidosis type IIIC (Sanfilippo C) | 252930 | HGSNAT |
Muenke syndrome | 602849 | FGFR3 |
MULIBREY nanism | 253250 | TRIM37 |
Multiple epiphyseal dysplasia type 4 | 226900 | SLC26A2 |
Multiple pterygium syndrome, lethal type | 253290 | CHRNA1 |
Multiple pterygium syndrome, lethal type | 253290 | CHRND |
Multiple pterygium syndrome, lethal type | 253290 | CHRNG |
Multiple sulfatase deficiency | 272200 | SUMF1 |
Muscle-eye-brain disease | 613153 | FKRP |
Muscular dystrophy, limb-girdle, type 2A | 253600 | CAPN3 |
Muscular dystrophy, limb-girdle, type 2B | 253601 | DYSF |
Muscular dystrophy, limb-girdle, type 2C | 253700 | SGCG |
Muscular dystrophy, limb-girdle, type 2D | 608099 | SGCA |
Muscular dystrophy, limb-girdle, type 2E | 604286 | SGCB |
Muscular dystrophy, limb-girdle, type 2H | 254110 | TRIM32 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 614643 | ISPD |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | 613155 | POMT1 |
retardation), type B, 1 | ||
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | 613156 | POMT2 |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | 613151 | POMGNT1 |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | 608840 | LARGE |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | 609308 | POMT1 |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | 613158 | POMT2 |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | 613157 | POMGNT1 |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | 616052 | ISPD |
Myasthenia, limb-girdle, familial | 254300 | DOK7 |
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 616326 | RAPSN |
Myasthenic syndrome, congenital, 1A, slow-channel | 601462 | CHRNA1 |
Myasthenic syndrome, congenital, 1B, fast-channel | 608930 | CHRNA1 |
Myasthenic syndrome, congenital, 2A, slow-channel | 606313 | CHRNB1 |
Myasthenic syndrome, congenital, 3A, slow-channel | 616321 | CHRND |
Myasthenic syndrome, congenital, 3B, fast-channel | 616322 | CHRND |
Myasthenic syndrome, congenital, 4A, slow-channel | 605809 | CHRNE |
Myasthenic syndrome, congenital, 4B, fast-channel | 616324 | CHRNE |
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | 608931 | CHRNE |
Myopathy, distal, with anterior tibial onset | 606768 | DYSF |
Nance-Horan syndrome | 302350 | NHS |
Navajo neurohepatopathy | 256810 | MPV17 |
Nemaline myopathy 2, autosomal recessive | 256030 | NEB |
Nemaline myopathy 5, Amish type | 605355 | TNNT1 |
Nephronophthisis 1, juvenile | 256100 | NPHP1 |
Nephronophthisis 11 | 613550 | TMEM67 |
Nephronophthisis 13 | 614377 | WDR19 |
Nephronophthisis 2, infantile | 602088 | INVS |
Nephronophthisis 3 | 604387 | NPHP3 |
Nephronophthisis 4 | 606966 | NPHP4 |
Nephronophthisis 7 | 611498 | GLIS2 |
Nephronophthisis 9 | 613824 | NEK8 |
Nephrotic syndrome, type 1 | 256300 | NPHS1 |
Nephrotic syndrome, type 2 | 600995 | NPHS2 |
Nephrotic syndrome, type 3 | 610725 | PLCE1 |
Nephrotic syndrome, type 5, with or without ocular abnormalities | 614199 | LAMB2 |
Neu-Laxova syndrome1 | 256520 | PHGDH |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | 250620 | HIBCH |
Neurodegeneration due to cerebral folate transport deficiency | 613068 | FOLR1 |
Neurodegeneration with brain iron accumulation 1 | 234200 | PANK2 |
Neurofibromatosis, type 1 | 162200 | NF1 |
Neurofibromatosis, type 2 | 101000 | NF2 |
Neutropenia, severe congenital 3, autosomal recessive | 610738 | HAX1 |
Niemann-Pick disease type A | 257200 | SMPD1 |
Niemann-Pick disease type B | 607616 | SMPD1 |
Niemann-Pick disease type C1 | 257220 | NPC1 |
Niemann-Pick disease type C2 | 607625 | NPC2 |
Noonan syndrome 1 | 163950 | PTPN11 |
Noonan syndrome 3 | 609942 | KRAS |
Noonan syndrome 4 | 610733 | SOS1 |
Noonan syndrome 5 | 611553 | RAF1 |
Noonan syndrome 6 | 613224 | NRAS |
Noonan syndrome 7 | 613706 | BRAF |
Noonan-like syndrome with loose anagen hair | 607721 | SHOC2 |
Norrie disease | 310600 | NDP |
Occipital horn syndrome | 304150 | ATP7A |
Oculocerebrorenal syndrome- Lowe oculocerebralrenal syndrome | 309000 | OCRL |
Oculodentodigital dysplasia | 164200 | GJA1 |
Oculodentodigital dysplasia, autosomal recessive | 257850 | GJA1 |
Ohdo syndrome, X-linked | 300895 | MED12 |
Omenn syndrome | 603554 | DCLRE1C |
Omenn syndrome (gene RAG1) | 603554 | RAG1 |
Omenn syndrome (gene RAG2) | 603554 | RAG2 |
Opitz GBBB syndrome, type I | 300000 | MID1 |
Opitz-Kaveggia syndrome o FG Syndrome 1 | 305450 | MED12 |
Ornithine transcarbamylase deficiency | 311250 | OTC |
Orofaciodigital syndrome I | 311200 | OFD1 |
Osteogenesis imperfecta type 8 | 610915 | LEPRE1 |
Osteogenesis imperfecta type VII | 610682 | CRTAP |
Osteogenesis imperfecta, type I | 166200 | COL1A1 |
Osteogenesis imperfecta, type II | 166210 | COL1A2 |
Osteogenesis imperfecta, type II | 166210 | COL1A1 |
Osteogenesis imperfecta, type III | 259420 | COL1A2 |
Osteogenesis imperfecta, type III | 259420 | COL1A1 |
Osteogenesis imperfecta, type IV | 166220 | COL1A2 |
Osteogenesis imperfecta, type IV | 166220 | COL1A1 |
Osteogenesis imperfecta, type IX | 259440 | PPIB |
Osteopetrosis with renal tubular acidosis Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | 259730 | CA2 |
Osteopetrosis, autosomal recessive 5 | 259720 | OSTM1 |
Otopalatodigital syndrome, type I | 311300 | FLNA |
Otopalatodigital syndrome, type II | 304120 | FLNA |
Otospondylomegaepiphyseal dysplasia | 215150 | COL11A2 |
Otospondylomegaepiphyseal dysplasia | 215150 | COL2A1 |
Paget disease, juvenile | 239000 | TNFRSF11B |
Partial androgen insensitivity syndrome | 312300 | AR |
Partington syndrome | 309510 | ARX |
PCWH syndrome | 609136 | SOX10 |
Pelizaeus-Merzbacher disease | 312080 | PLP1 |
Pelizaeus-Merzbacher-like due to GJC2 mutation | 608804 | GJC2 |
Pendred syndrome | 274600 | SLC26A4 |
Peroxisomal acyl-CoA oxidase deficiency | 264470 | ACOX1 |
Peroxisome biogenesis disorder 10A (Zellweger) | 614882 | PEX3 |
Peroxisome biogenesis disorder 11A (Zellweger) | 614883 | PEX13 |
Peroxisome biogenesis disorder 11B | 614885 | PEX13 |
Peroxisome biogenesis disorder 12A (Zellweger) | 614886 | PEX19 |
Peroxisome biogenesis disorder 13A (Zellweger) | 614887 | PEX14 |
Peroxisome biogenesis disorder 14B | 614920 | PEX11B |
Peroxisome biogenesis disorder 1A (Zellweger) | 214100 | PEX1 |
Peroxisome biogenesis disorder 1B (NALD/IRD) | 601539 | PEX1 |
Peroxisome biogenesis disorder 2A (Zellweger) | 214110 | PEX5 |
Peroxisome biogenesis disorder 2B | 202370 | PEX5 |
Peroxisome biogenesis disorder 3A (Zellweger) | 614859 | PEX12 |
Peroxisome biogenesis disorder 3B | 266510 | PEX12 |
Peroxisome biogenesis disorder 4A (Zellweger) | 614862 | PEX6 |
Peroxisome biogenesis disorder 4B | 614863 | PEX6 |
Peroxisome biogenesis disorder 5A (Zellweger) | 614866 | PEX2 |
Peroxisome biogenesis disorder 5B | 614867 | PEX2 |
Peroxisome biogenesis disorder 6A (Zellweger) | 614870 | PEX10 |
Peroxisome biogenesis disorder 6B | 614871 | PEX10 |
Peroxisome biogenesis disorder 7A (Zellweger) | 614873 | PEX26 |
Peroxisome biogenesis disorder 8A, (Zellweger) | 614876 | PEX16 |
Peroxisome biogenesis disorder 8B | 614877 | PEX16 |
Peroxisome biogenesis disorder 9B | 614879 | PEX7 |
Perrault syndrome | 233400 | HSD17B4 |
Persistent truncus arteriosus | 217095 | GATA6 |
Persistent truncus arteriosus- Conotruncal heart malformations | 217095 | NKX2-6 |
Phenylketonuria | 261600 | PAH |
Phosphoglycerate dehydrogenase deficiency | 601815 | PHGDH |
Pierson syndrome | 609049 | LAMB2 |
Pitt-Hopkins syndrome | 610954 | TCF4 |
Platyspondylic skeletal dysplasia, Torrance type | 151210 | COL2A1 |
Polymicrogyria, bilateral frontoparietal | 606854 | GPR56 |
Polymicrogyria, symmetric or asymmetric | 610031 | TUBB2B |
Pontocerebellar hypoplasia type 1A | 607596 | VRK1 |
Pontocerebellar hypoplasia type 2B | 612389 | TSEN2 |
Pontocerebellar hypoplasia type 2C | 612390 | TSEN34 |
Pontocerebellar hypoplasia, type 6 | 611523 | RARS2 |
Porphyria, congenital erythropoietic | 263700 | UROS |
Progressive epilepsy – intellectual deficit, Finnish type | 610003 | CLN8 |
Propionic acidemia (gene PCCA) | 606054 | PCCA |
Propionic acidemia (gene PCCB) | 606054 | PCCB |
Proud syndrome | 300004 | ARX |
Proximal spinal muscular atrophy type 1 | 253300 | SMN1 |
Proximal spinal muscular atrophy type 2 | 253550 | SMN1 |
Proximal spinal muscular atrophy type 3 | 253400 | SMN1 |
Proximal spinal muscular atrophy type 4 | 271150 | SMN1 |
Pseudoachondroplasia | 177170 | COMP |
Pseudohermaphroditism, male, with gynecomastia | 264300 | HSD17B3 |
Pseudovaginal perineoscrotal hypospadias | 264600 | SRD5A2 |
Pyridoxal phosphate-responsive seizures | 610090 | PNPO |
Pyruvate carboxylase deficiency | 266150 | PC |
Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked | 312170 | PDHA1 |
Pyruvate dehydrogenase E1-beta deficiency | 614111 | PDHB |
Pyruvate dehydrogenase E2 deficiency | 245348 | DLAT |
Pyruvate dehydrogenase phosphatase deficiency | 608782 | PDP1 |
Refsum disease | 266500 | PHYH |
Renal-hepatic-pancreatic dysplasia | 208540 | NPHP3 |
Renal-hepatic-pancreatic dysplasia 2 | 615415 | NEK8 |
Renpenning syndrome | 309500 | PQBP1 |
Restrictive dermopathy, lethal | 275210 | ZMPSTE24 |
Retinitis pigmentosa 12, autosomal recessive | 600105 | CRB1 |
Retinitis pigmentosa 19 | 601718 | ABCA4 |
Retinitis pigmentosa 2 | 312600 | RP2 |
Retinitis pigmentosa 20 | 613794 | RPE65 |
Retinitis pigmentosa 3 | 300029 | RPGR |
Retinitis pigmentosa 39 | 613809 | USH2A |
Retinitis pigmentosa 40 | 613801 | PDE6B |
Retinitis pigmentosa 43 | 613810 | PDE6A |
Retinitis pigmentosa 59 | 613861 | DHDDS |
Retinitis pigmentosa 61 | 614180 | CLRN1 |
Retinitis pigmentosa type 1, autosomal dominant | 180100 | RP1 |
Retinitis pigmentosa type 10, autosomal dominant | 180105 | IMPDH1 |
Retinitis pigmentosa type 11, autosomal dominant | 600138 | PRPF31 |
Retinitis pigmentosa type 13, autosomal dominant | 600059 | PRPF8 |
Retinitis pigmentosa type 17, autosomal dominant | 600852 | CA4 |
Retinitis pigmentosa type 18, autosomal dominant | 601414 | PRPF3 |
Retinitis pigmentosa type 27, autosomal dominant | 613750 | NRL |
Retinitis pigmentosa type 30, autosomal dominant | 607921 | FSCN2 |
Retinitis pigmentosa type 31, autosomal dominant | 609923 | TOPORS |
Retinitis pigmentosa type 33, autosomal dominant | 610359 | SNRNP200 |
Retinitis pigmentosa type 35, autosomal dominant | 610282 | SEMA4A |
Retinitis pigmentosa type 4, autosomal dominant | 613731 | RHO |
Retinitis pigmentosa type 42, autosomal dominant | 612943 | KLHL7 |
Retinitis pigmentosa type 48, autosomal dominant | 613827 | GUCA1B |
Retinitis pigmentosa type 50, autosomal dominant | 613194 | BEST1 |
Retinitis pigmentosa type 7, autosomal dominant | 608133 | PRPH2 |
Retinitis pigmentosa type 9, autosomal dominant | 180104 | RP9 |
Rett syndrome | 312750 | MECP2 |
Rett syndrome, congenital variant | 613454 | FOXG1 |
Rhizomelic chondrodysplasia punctata type 3 | 600121 | AGPS |
Right atrial isomerism | 208530 | GDF1 |
Roberts syndrome | 269000 | ESCO2 |
Rolandic epilepsy, mental retardation, and speech dyspraxia | 300643 | SRPX2 |
Saethre-Chotzen syndrome (FGFR2) | 101400 | FGFR2 |
Saethre-Chotzen syndrome (TWIST1) | 101400 | TWIST1 |
Salla disease | 604369 | SLC17A5 |
Sandhoff disease | 268800 | HEXB |
Scaphocephaly, maxillary retrusion, and mental retardation | 609579 | FGFR2 |
Schizencephaly | 269160 | EMX2 |
Schizencephaly | 269160 | SHH |
Schizencephaly | 269160 | SIX3 |
Schneckenbecken dysplasia | 269250 | SLC35D1 |
Schwartz-Jampel syndrome | 255800 | HSPG2 |
Seckel syndrome | 210600 | ATR |
SED congenita | 183900 | COL2A1 |
Senior-Loken syndrome 1 | 266900 | NPHP1 |
Senior-Loken syndrome 4 | 606996 | NPHP4 |
Senior-Loken syndrome 5 | 609254 | IQCB1 |
Senior-Loken syndrome 6 | 610189 | CEP290 |
Senior-Loken syndrome 7 | 613615 | SDCCAG8 |
Senior-Loken syndrome 8 | 616307 | WDR19 |
SESAME syndrome | 612780 | KCNJ10 |
Severe combined immunodeficiency due to complete RAG1 deficiency | 601457 | RAG1 |
Severe combined immunodeficiency due to complete RAG2 deficiency | 601457 | RAG2 |
Severe combined immunodeficiency due to DCLRE1C deficiency | 602450 | DCLRE1C |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | 611291 | NHEJ1 |
Severe combined immunodeficiency with sensitivity to ionizing radiation | 602450 | LIG4 |
Severe combined immunodeficiency. deaminase deficiency | 102700 | ADA |
Severe generalized recessive dystrophic epidermolysis bullosa | 226600 | COL7A1 |
Severe T-cell immunodeficiency – congenital alopecia – nail dystrophy | 601705 | FOXN1 |
Shaheen syndrome | 615328 | COG6 |
Short-rib thoracic dysplasia 3 with or without polydactyly | 613091 | DYNC2H1 |
Short-rib thoracic dysplasia 4 with or without polydactyly | 613819 | TTC21B |
Short-rib thoracic dysplasia 5 with or without polydactyly | 614376 | WDR19 |
Short-rib thoracic dysplasia 6 with or without polydactyly | 263520 | NEK1 |
Shwachman-Diamond syndrome | 260400 | SBDS |
Sialidosis, type I | 256550 | NEU1 |
Sialidosis, type II | 256550 | NEU1 |
Sickle cell anemia | 603903 | HBB |
Simpson-Golabi-Behmel syndrome type 2 | 300209 | OFD1 |
Simpson-Golabi-Behmel syndrome, type 1 | 312870 | GPC3 |
Syndrome de Dursun | 612541 | G6PC3 |
Sjogren-Larsson syndrome | 270200 | ALDH3A2 |
SMED Strudwick type | 184250 | COL2A1 |
Smith-Lemli-Opitz syndrome | 270400 | DHCR7 |
Sotos syndrome 1 | 117550 | NSD1 |
Spastic paraplegia type 2, X-linked | 312920 | PLP1 |
Spinal muscular atrophy with respiratory distress | 604320 | IGHMBP2 |
Spinal muscular atrophy, distal, autosomal recessive, 4 | 611067 | PLEKHG5 |
Spondylocostal dysostosis 1, autosomal recessive | 277300 | DLL3 |
Spondyloepimetaphyseal dysplasia, aggrecan type | 612813 | ACAN |
Spondyloepiphyseal dysplasia, Kimberley type | 608361 | ACAN |
Spondyloperipheral dysplasia | 271700 | COL2A1 |
Stargardt dusease 1 | 248200 | ABCA4 |
Stickler sydrome, type I, nonsyndromic ocular | 609508 | COL2A1 |
Stickler syndrome, type I | 108300 | COL2A1 |
Stickler syndrome, type II | 604841 | COL11A1 |
Stickler syndrome, type III | 184840 | COL11A2 |
Stickler syndrome, type IV | 614134 | COL9A1 |
Stocco dos Santos X-linked mental retardation syndrome | 300434 | SHROOM4 |
Stüve-Wiedemann syndrome | 601559 | LIFR |
Subcortical laminal heteropia, X-linked | 300067 | DCX |
Succinyl CoA:3-oxoacid CoA transferase deficiency | 245050 | OXCT1 |
Sudden infant death with dysgenesis of the testes syndrome | 608800 | TSPYL1 |
Sulfocysteinuria | 272300 | SUOX |
Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | SFTPB |
Surfactant metabolism dysfunction, pulmonary, 2 | 610913 | SFTPC |
Surfactant metabolism dysfunction, pulmonary, 3 | 610921 | ABCA3 |
Syndromic microphthalmia type 9 | 601186 | STRA6 |
Tay-Sachs disease | 272800 | HEXA |
T-B+ severe combined immunodeficiency due to gamma chain deficiency | 300400 | IL2RG |
T-B+ severe combined immunodeficiency due to JAK3 deficiency | 600802 | JAK3 |
T-B+ severe combined immunodeficiency, X-linked | 312863 | IL2RG |
Tetra-amelia, autosomal recessive | 273395 | WNT3 |
Tetralogy of Fallot | 187500 | GATA4 |
Tetralogy of Fallot | 187500 | GATA6 |
Tetralogy of Fallot | 187500 | JAG1 |
Tetrology of Fallot | 187500 | GDF1 |
Tetrology of Fallot | 187500 | NKX2-5 |
Tetrology of Fallot | 187500 | TBX1 |
Thanatophoric dysplasia, type I | 187600 | FGFR3 |
Thanatophoric dysplasia, type II | 187601 | FGFR3 |
Thrombocytopenia-absent radius syndrome | 274000 | RBM8A |
Thrombotic thrombocytopenic purpura, familial | 274150 | ADAMTS13 |
Thryoid dyshormonogenesis 6 | 607200 | DUOX2 |
Thyroid dyshormonogenesis 1 | 274400 | SLC5A5 |
Thyroid dyshormonogenesis 2A | 274500 | TPO |
Thyroid dyshormonogenesis 3 | 274700 | TG |
Thyroid dyshormonogenesis 4 | 274800 | IYD |
Thyroid dyshormonogenesis 5 | 274900 | DUOXA2 |
Tietz albinism-deafness syndrome | 103500 | MITF |
Transposition of great arteries, dextro-looped 3 | 613854 | GDF1 |
Transposition of the great arteries, dextro-looped 1 | 608808 | MED13L |
Transposition of the great arteries, dextro-looped 2 | 613853 | CFC1 |
Treacher Collins syndrome 1 | 154500 | TCOF1 |
Treacher Collins syndrome 3 | 248390 | POLR1C |
Trichothiodystrophy 1, photosensitive | 601675 | ERCC2 |
Trichothiodystrophy 2, photosensitive | 616390 | ERCC3 |
Trichothiodystrophy 3, photosensitive | 616395 | GTF2H5 |
Tuberous sclerosis-1 | 191100 | TSC1 |
Tuberous sclerosis-2 | 613254 | TSC2 |
Tyrosinemia type 1 | 276700 | FAH |
Tyrosinemia type 2 | 276600 | TAT |
Tyrosinemia type 3 | 276710 | HPD |
Usher syndrome type 1 | 276900 | MYO7A |
Usher syndrome type 1C | 276904 | USH1C |
Usher syndrome type 1D | 601067 | CDH23 |
Usher syndrome type 1D/F digenic | 601067 | CDH23 |
Usher syndrome type 1F | 602083 | PCDH15 |
Usher syndrome type 1G | 606943 | USH1G |
Usher syndrome type 2A | 276901 | USH2A |
Usher syndrome type 2C | 605472 | GPR98 |
Usher syndrome type 3A | 276902 | CLRN1 |
Usher syndrome type 3B | 614504 | HARS |
VACTERL association, X-linked | 314390 | ZIC3 |
Ventricular septal defect 1 | 614429 | GATA4 |
Ventricular septal defect 2 | 614431 | CITED2 |
Ventricular septal defect 3 | 614432 | NKX2-5 |
Very long chain acyl-CoA dehydrogenase deficiency | 201475 | ACADVL |
Vitamin B12-responsive methylmalonic acidemia type cblA | 251100 | MMAA |
Vitamin B12-responsive methylmalonic acidemia type cblB | 251110 | MMAB |
Vitamin B12-unresponsive methylmalonic acidemia type mut- | 251000 | MUT |
Vitamin D-dependent rickets, type I | 264700 | CYP27B1 |
Vitamin D-dependent rickets, type II A | 277440 | VDR |
Vitelliform macular dystrophy 2 | 153700 | BEST1 |
Vitreoretinochoroidopathy | 193220 | BEST1 |
Waardenburg syndrome, type 1 | 193500 | PAX3 |
Waardenburg syndrome, type 2A | 193510 | MITF |
Waardenburg syndrome, type 2E, with or without neurologic involvement | 611584 | SOX10 |
Waardenburg syndrome, type 3 | 148820 | PAX3 |
Waardenburg syndrome, type 4C | 613266 | SOX10 |
Waardenburg-Shah syndrome 4A (Sindrome di Waardenburg, tipo 4) | 277580 | EDNRB |
Waardenburg-Shah syndrome 4B | 613265 | EDN3 |
Walker-Warburg syndrome (gene POMGNT1) | 253280 | POMGNT1 |
Walker-Warburg syndrome (gene POMT1) | 236670 | POMT1 |
Walker-Warburg syndrome (gene POMT2) | 613150 | POMT2 |
Warburg micro syndrome 1 | 600118 | RAB3GAP1 |
Warburg micro syndrome 2 | 614225 | RAB3GAP2 |
Weissenbacher-Zweymuller syndrome | 277610 | COL11A2 |
Wilson disease | 277900 | ATP7B |
Wilson-Turner syndrome | 309585 | HDAC8 |
Wolcott-Rallison syndrome | 226980 | EIF2AK3 |
Wolfram syndrome | 222300 | WFS1 |
Xeroderma pigmentosum complementation group A | 278700 | XPA |
Xeroderma pigmentosum complementation group E | 278740 | DDB2 |
Xeroderma pigmentosum, group C | 278720 | XPC |
Xeroderma pigmentosum/Cockayne syndrome complex complementation group B | 610651 | ERCC3 |
Xeroderma pigmentosum/Cockayne syndrome complex complementation group D | 278730 | ERCC2 |
Xeroderma pigmentosum/Cockayne syndrome complex complementation group F | 278760 | ERCC4 |
Xeroderma pigmentosum/Cockayne syndrome complex complementation group G | 278780 | ERCC5 |
X-linked agammaglobulinemia | 300755 | BTK |
X-linked centronuclear myopathy | 310400 | MTM1 |
X-linked creatine transporter deficiency | 300352 | SLC6A8 |
X-linked hyper-IgM syndrome Immunodeficiency, X-linked, with hyper-IgM | 308230 | CD40LG |
X-linked intellectual deficit with marfanoid habitus- Lujan-Fryns syndrome | 309520 | MED12 |
X-linked spinal muscular atrophy type 2 | 301830 | UBA1 |
Zellweger syndrome 7A | 614872 | PEX26 |