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The MOVE Fire

This is a personal recollection on the Move fire on May 13, 1985 Philadelphia police fired thousands of rounds at the MOVE house, city officials approved dropping an explosive device on the roof, the resulting fire was allowed to burn, 11 people—including five children—died, and 61 homes were destroyed. Philadelphia City Council later called it a “brutal attack carried out by the City of Philadelphia on its own citizens” and acknowledged that no individual faced criminal consequences for the bombing. One timeline correction worth preserving for the BHP record: the major previous MOVE-police confrontation was August 8, 1978, about seven years before the bombing, not a year or two earlier. Officer James Ramp was killed, other police and firefighters were wounded, nine MOVE members were later convicted, and television cameras recorded police beating Delbert Africa during his arrest. The 1985 MOVE Commission later specifically criticized city planners for failing to adequately use lessons from that 1978 confrontation. And that actually strengthens the point you’re making: 1985 did not happen without precedent or institutional memory. There had already been a deadly confrontation with MOVE, years of conflict, negotiations and police involvement before Osage Avenue.

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Ruler of the Mali Empire in the 14th century

Mansa Musa was the ruler of the Mali Empire in West Africa. Details recorded here should be sourced; unknown information is left blank.

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BHP gathered finds from its connected research sources. Showing the 4 strongest Black History matches.
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Wikipedia

RPGRIP1

Crystal structure of the RPGR-interacting domain (RID) of RPGRIP1, PDB code 4qam. Alpha helices are in red, beta strands in gold.
Identifiers
SymbolX-linked retinitis pigmentosa GTPase regulator-interacting protein 1
PfamPF00168
InterProIPR031134
CATH4qam
SCOP24qam / SCOPe / SUPFAM
Available protein structures:
PDB  IPR031134 PF00168 (ECOD; PDBsum)  
AlphaFold
RPGRIP1
Identifiers
AliasesRPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1, RPGR interacting protein 1
External IDsOMIM: 605446; MGI: 1932134; GeneCards: RPGRIP1
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

57096

77945

Ensembl

ENSG00000092200

ENSMUSG00000057132

UniProt

Q96KN7

Q9EPQ2

RefSeq (mRNA)

NM_001168515
NM_023879

RefSeq (protein)

NP_001161987
NP_076368

Location (UCSC)Chr 14: 21.28 – 21.35 MbChr 14: 52.11 – 52.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene.[5][6] RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome[7] and in the eye disease glaucoma.[8]

Interactions

[edit]

RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator.[9] RPGRIP1 interacts with RPGR via its RPGR-interacting domain (RID), which folds into a C2 domain architecture and interacts with RPGR at three different locations: A β strand of the RID interacting with the large loop of RPGR, at a hydrophobic interaction site, and via the N-terminal region of the RID.[10]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092200 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057132 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Boylan JP, Wright AF (September 2000). "Identification of a novel protein interacting with RPGR". Human Molecular Genetics. 9 (14): 2085–93. doi:10.1093/hmg/9.14.2085. hdl:1842/23251. PMID 10958647.
  6. ^ "Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1".
  7. ^ Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL (May 2001). "Null RPGRIP1 alleles in patients with Leber congenital amaurosis". American Journal of Human Genetics. 68 (5): 1295–8. doi:10.1086/320113. PMC 1226111. PMID 11283794.
  8. ^ Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F (April 2011). "Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma". European Journal of Human Genetics. 19 (4): 445–51. doi:10.1038/ejhg.2010.217. PMC 3060327. PMID 21224891.
  9. ^ Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA (September 2000). "The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors". Human Molecular Genetics. 9 (14): 2095–105. doi:10.1093/hmg/9.14.2095. PMID 10958648.
  10. ^ Remans K, Bürger M, Vetter IR, Wittinghofer A (July 2014). "C2 domains as protein-protein interaction modules in the ciliary transition zone". Cell Reports. 8 (1): 1–9. doi:10.1016/j.celrep.2014.05.049. PMC 4519163. PMID 24981858.

Further reading

[edit]
[edit]
  • PDBe-KB provides an overview of all the structure information available in the PDB for Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)



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This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by adding missing information.

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Wikipedia

RPGRIP1

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.

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Wikipedia

RPGRIP1L

RPGRIP1L is a human gene.

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Wikipedia

List of OMIM disorder codes

This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1 17-beta-hydroxysteroid dehydrogenase X deficiency; 300438; HSD17B10 2-methylbutyrylglycinuria; 610006; ACADSB 3-hydroxyacyl-coa dehydrogenase deficiency; 231530; HADHSC 3-hydroxyisobutryl-CoA hydrolase deficiency; 250620; HIBCH 3-M syndrome; 273750; CUL7 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 210200; MCCC1 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 210210; MCCC2 3-Methylglutaconic aciduria type I; 250950; AUH 3-Methylglutaconic aciduria type III; 258501; OPA3 3-Methylglutaconic aciduria type V; 610198; DNAJC19 46XX true hermaphroditism; 400045; SRY 46XY complete gonadal dysgenesis; 233420; DHH 46XY complete gonadal dysgenesis; 400044; SRY 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; 612965; NR5A1 46XY gonadal dysgenesis, complete, CBS2-related; 613080; CBX2 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 607080; DHH 5-fluorouracil toxicity; 274270; DPYD 6-mercaptopurine sensitivity; 610460; TPMT Aarskog–Scott syndrome; 305400; FGD1 ABCD syndrome; 600501; EDNRB Abetalipoproteinemia; 200100; MTP ACAD9 deficiency; 611126; ACAD9 Acampomelic campomelic dysplasia; 114290; SOX9 Achalasia-Addisonianism-Alacrimia syndrome; 231550; AAAS Acheiropody; 200500; LMBR1 Achondrogenesis Ib; 600972; SLC26A2 Achondrogenesis type 1A; 200600; TRIP11 Achondrogenesis-hypochondrogenesis type 2; 200610; COL2A1 Achondroplasia; 100800; FGFR3 Achromatopsia-2; 216900; CNGA3 Achromatopsia-3; 262300; CNGB3 Acrocallosal syndrome; 200990; GLI3 Acrocapitofemoral dysplasia; 607778; IHH Acrodermatitis enteropathica; 201100; SLC39A4 Acrokeratosis verruciformis; 101900; ATP2A2 Acromesomelic dysplasia, Hunter-Thompson type; 201250; GDF5 Acromesomelic dysplasia, Maroteaux type; 602875; NPR2 Action myoclonus-renal failure syndrome; 254900; SCARB2 Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL Acyl-CoA dehydrogenase, medium chain, deficiency of; 201450; ACADM Acyl-CoA dehydrogenase, short chain, deficiency of; 201470; ACADS Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; 211980; EGFR Adenocarcinoma of lung, somatic; 211980; BRAF Adenocarcinoma of lung, somatic; 211980; ERBB2 Adenocarcinoma of lung, somatic; 211980; PRKN Adenocarcinoma, ovarian, somatic; 604370; PRKN Adenomas, multiple colorectal; 608456; MUTYH Adenomas, salivary gland pleomorphic; 181030; PLAG1 Adenomatous polyposis coli; 175100; APC Adenosine deaminase deficiency, partial; 102700; ADA Adenosine triphosphate, elevated, of erythrocytes; 102900; PKLR Adenylosuccinase deficiency; 103050; ADSL Adiponectin deficiency; 612556; ADIPOQ Adrenal cortical carcinoma; 202300; TP53 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; 202010; CYP11B1 Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; 201750; POR Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; 300200; DAX1 Adrenocorticotropic hormone deficiency; 201400; TBS19 Adrenoleukodystrophy; 300100; ABCD1 Adrenoleukodystrophy, neonatal; 202370; PEX1 Adrenoleukodystrophy, neonatal; 202370; PEX10 Adrenoleukodystrophy, neonatal; 202370; PEX13 Adrenoleukodystrophy, neonatal; 202370; PEX26 Adrenoleukodystrophy, neonatal; 202370; PEX5 Adrenomyeloneuropathy; 300100; ABCD1 Adult i phenotype with congenital cataract; 110800; GCNT2 Adult i phenotype without cataract; 110800; GCNT2 ADULT syndrome; 103285; TP63 Advanced sleep phase syndrome, familial; 604348; PER2 Afibrinogenemia, congenital; 202400; FGA Afibrinogenemia, congenital; 202400; FGB Agammaglobulinemia 1; 601495; IGHM Agammaglobulinemia 2; 613500; IGLL1 Agammaglobulinemia 4; 613502; BLNK Agammaglobulinemia 5; 613506; LRRC8A Agammaglobulinemia and isolated hormone deficiency; 307200; BTK Agammaglobulinemia, type 1, X-linked; 300755; BTK AGAT deficiency; 612718; GATM Agenesis of the corpus callosum with peripheral neuropathy; 218000; SLC12A6 Aicardi–Goutières syndrome 1, dominant and recessive; 225750; TREX1 Aicardi–Goutières syndrome 2; 610181; RNASEH2B Aicardi–Goutières syndrome 3; 610329; RNASEH2C Aicardi–Goutières syndrome 4; 610333; RNASEH2A Aicardi–Goutières syndrome 5; 612952; SAMHD1 AICA-ribosiduria due to ATIC deficiency; 608688; ATIC Alagille syndrome 2; 610205; NOTCH2 Alagille syndrome; 118450; JAG1 Aland Island eye disease; 300600; CACNA1F Albinism, brown oculocutaneous; 203200; OCA2 Albinism, brown; 203290; TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; TYR Albinism, oculocutaneous, type II; 203200; OCA2 Albinism, rufous; 278400; TYRP1 Alcohol sensitivity, acute; 610251; ALDH2 Aldosteronism, glucocorticoid-remediable; 103900; CYP11B1 Alexander disease; 203450; GFAP Alexander disease; 203450; NDUFV1 Alkaptonuria; 203500; HGD Allan–Herndon–Dudley syndrome; 300523; SLC16A2 Alopecia universalis; 203655; HR Alopecia, neurologic defects, and endocrinopathy syndrome; 612079; RBM28 Alpers syndrome; 203700; POLG Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; 609889; RAG1 Alpha-2-plasmin inhibitor deficiency; 262850; PLI Alpha-ketoglutarate dehydrogenase deficiency; 203740; OGDH Alpha-methylacetoacetic aciduria; 203750; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040; ATRX Alport syndrome; 301050; COL4A5 Alport syndrome, autosomal recessive; 203780; COL4A3 Alport syndrome, autosomal recessive; 203780; COL4A4 Alström syndrome; 203800; ALMS1 Alternating hemiplegia of childhood; 104290; ATP1A2 Alveolar capillary dysplasia with misalignment of pulmonary veins; 265380; FOXF1 Alveolar soft part sarcoma; 606243; ASPSCR1 Alzheimer disease 1, familial; 104300; APP Alzheimer disease 6; 104300; AD6 Alzheimer disease 8; 104300; AD8 Alzheimer disease, late-onset, susceptibility to; 104300; NOS3 Alzheimer disease, type 3; 607822; PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia; 607822; PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; 607822; PSEN1 Alzheimer disease-10; 104300; AD10 Alzheimer disease-2; 104310; APOE Alzheimer disease-4; 606889; PSEN2 Alzheimer disease-5; 104300; AD5 Amelogenesis imperfecta, hypomaturation type, IIA3; 613211; WDR72 Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; 104510; DLX3 Amelogenesis imperfecta, hypoplastic/hypomaturation type; 301200; AMELX Amelogenesis imperfecta, type 3; 130900; FAM83H Amelogenesis imperfecta, type IB; 104500; ENAM Amelogenesis imperfecta, type IC; 204650; ENAM Amelogenesis imperfecta, type IIA1; 204700; KLK4 Amelogenesis imperfecta, type IIA2; 612529; MMP20 Aminoacylase 1 deficiency; 609924; ACY1 Amish infantile epilepsy syndrome; 609056; SIAT9 Amyloidosis, 3 or more types; 105200; APOA1 Amyloidosis, Finnish type; 105120; GSN Amyloidosis, hereditary renal; 105200; FGA Amyloidosis, hereditary, transthyretin-related; 105210; TTR Amyloidosis, primary localized cutaneous; 105250; OSMR Amyloidosis, renal; 105200; LYZ Amyotrophic lateral sclerosis 10, with or without FTD; 612069; TARDBP Amyotrophic lateral sclerosis 11; 612577; FIG4 Amyotrophic lateral sclerosis 4, juvenile; 602433; SETX Amyotrophic lateral sclerosis 6, autosomal recessive; 608030; FUS Amyotrophic lateral sclerosis 8; 608627; VAPB Amyotrophic lateral sclerosis 9; 611895; ANG Amyotrophic lateral sclerosis, due to SOD1 deficiency; 105400; SOD1 Amyotrophic lateral sclerosis, juvenile; 205100; ALS2 Amyotrophy, hereditary neuralgic; 162100; 40430 Amytrophic lateral sclerosis 12; 613435; OPTN Anauxetic dysplasia; 607095; RMRP Androgen insensitivity syndrome; 300068; AR Androgen insensitivity, partial, with or without breast cancer; 312300; AR Anemia, congenital dyserythropoietic, type I; 224120; CDAN1 Anemia, dyserythropoietic congenital, type II; 224100; SEC23B Anemia, hemolytic, due to UMPH1 deficiency; 266120; NT5C3 Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG Anemia, hypochromic microcytic; 206100; NRAMP2 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; GLRX5 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; SLC25A38 Anemia, sideroblastic, with ataxia; 301310; ABCB7 Anemia, sideroblastic, X-linked; 300751; ALAS2 Angelman syndrome; 105830; MECP2 Angelman syndrome; 105830; UBE3A Angelman syndrome-like; 105830; CDKL5 Angioedema, hereditary, type III; 610618; F12 Angioedema, hereditary, types I and II; 106100; C1NH Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; 611773; COL4A1 Aniridia; 106210; PAX6 Anonychia congenita; 206800; RSPO4 Anterior segment mesenchymal dysgenesis; 107250; FOXE3 Anterior segment mesenchymal dysgenesis; 107250; PITX3 Antithrombin III deficiency; 613118; AT3 Antley–Bixler syndrome; 207410; FGFR2 Antley–Bixler syndrome-like with disordered steroidogenesis; 201750; POR Anxiety-related personality traits; 607834; SLC6A4 Aortic aneurysm, familial thoracic 4; 132900; MYH11 Aortic aneurysm, familial thoracic 6; 611788; ACTA2 Aortic valve disease; 109730; NOTCH1 Apert syndrome; 101200; FGFR2 Aphakia, congenital primary; 610256; FOXE3 Aplasia of lacrimal and salivary glands; 180920; FGF10 Aplastic anemia; 609135; TERC Argininemia; 207800; ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 Aromatic L-amino acid decarboxylase deficiency; 608643; DDC Arrhythmogenic right ventricular dysplasia 1; 107970; TGFB3 Arrhythmogenic right ventricular dysplasia 2; 600996; RYR2 Arrhythmogenic right ventricular dysplasia 5; 604400; LAMR1 Arrhythmogenic right ventricular dysplasia 8; 607450; DSP Arrhythmogenic right ventricular dysplasia, familial, 10; 610193; DSG2 Arrhythmogenic right ventricular dysplasia, familial, 11; 610476; DSC2 Arrhythmogenic right ventricular dysplasia, familial, 12; 611528; JUP Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2 Arterial calcification, generalized, of infancy; 208000; ENPP1 Arterial tortuosity syndrome; 208050; SLC2A10 Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2 Arthrogryposis multiplex congenita, distal type 2B; 601680; TNNI2 Arthrogryposis, distal, type 2A; 193700; MYH3 Arthrogryposis, distal, type 2B; 601680; MYH3 Arthrogryposis, distal, type 2B; 601680; TPM2 Arthrogryposis, lethal, with anterior horn cell disease; 611890; GLE1 Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B Arthrogryposis, renal dysfunction, and cholestasis 2; 613404; VIPAR Arthropathy, progressive pseudorheumatoid, of childhood; 208230; WISP3 Arthyrgryposis, distal, type 2B; 601680; TNNT3 Arts syndrome; 301835; PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1 Asthma and nasal polyps; 208550; TBX21 Ataxia with isolated vitamin E deficiency; 277460; TTPA Ataxia, cerebellar, Cayman type; 601238; ATCAY Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; 208920; APTX Ataxia–ocular apraxia-2; 606002; SETX Ataxia–telangiectasia; 208900; ATM Ataxia–telangiectasia-like disorder; 604391; MRE11A Atelosteogenesis II; 256050; SLC26A2 Atelosteogenesis, type III; 108721; FLNB Atelostogenesis, type I; 108720; FLNB Athabaskan brainstem dysgenesis syndrome; 601536; HOXA1 Atopy; 147050; SPINK5 ATP synthase deficiency, nuclear-encoded; 604273; ATPAF2 Atransferrinemia; 209300; TF Atrial fibrillation; 608583; GJA5 Atrial fibrillation, familial, 3; 607554; KCNQ1 Atrial fibrillation, familial, 4; 611493; KCNE2 Atrial fibrillation, familial, 6; 612201; NPPA Atrial fibrillation, familial, 7; 612240; KCNA5 Atrial septal defect 4; 611363; TBX20 Atrial septal defect 5; 612794; ACTC1 Atrial septal defect 6; 613087; TLL1 Atrial septal defect with atrioventricular conduction defects; 108900; NKX2E Atrial septal defect-2; 607941; GATA4 Atrichia with papular lesions; 209500; HR Atrioventricular canal defect; 600309; AVSD1 Atrioventricular septal defect; 600309; GJA1 Atrioventricular septal defect, partial, with heterotaxy syndrome; 606217; CRELD1 Auditory neuropathy, autosomal recessive, 1; 601071; OTOF Autoimmune disease, syndromic multisystem; 613385; ITCH Autoimmune lymphoproliferative syndrome, type IA; 601859; TNFRSF6 Autoimmune lymphoproliferative syndrome, type II; 603909; CASP10 Autoimmune lymphoproliferative syndrome, type IIB; 607271; CASP8 Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; 240300; AIRE Axenfeld–Rieger syndrome, type 1; 180500; PITX2 Axenfeld–Rieger syndrome, type 3; 602482; FOXC1 Azoospermia due to perturbations of meiosis; 270960; SYCP3 Azoospermia; 415000; USP9Y Baller–Gerold syndrome; 218600; RECQL4 Bamforth–Lazarus syndrome; 241850; FOXE1 Bannayan–Riley–Ruvalcaba syndrome; 153480; PTEN Bardet–Biedl syndrome 1; 209900; BBS1 Bardet–Biedl syndrome 10; 209900; BBS10 Bardet–Biedl syndrome 11; 209900; TRIM32 Bardet–Biedl syndrome 12; 209900; BBS12 Bardet–Biedl syndrome 13; 209900; MKS1 Bardet–Biedl syndrome 14; 209900; CEP290 Bardet–Biedl syndrome 15; 209900; C2orf86 Bardet–Biedl syndrome 2; 209900; BBS2 Bardet–Biedl syndrome 3; 209900; ARL6 Bardet–Biedl syndrome 4; 209900; BBS4 Bardet–Biedl syndrome 5; 209900; BBS5 Bardet–Biedl syndrome 6; 209900; MKKS Bardet–Biedl syndrome 7; 209900; BBS7 Bardet–Biedl syndrome 8; 209900; TTC8 Bardet–Biedl syndrome 9; 209900; PTHB1 Bare lymphocyte syndrome, type I; 604571; TAP1 Bare lymphocyte syndrome, type I; 604571; TAPBP Bare lymphocyte syndrome, type I, due to TAP2 deficiency; 604571; TAP2 Bare lymphocyte syndrome, type II, complementation group A; 209920; MHC2TA Bare lymphocyte syndrome, type II, complementation group C; 209920; RFX5 Bare lymphocyte syndrome, type II, complementation group D; 209920; RFXAP Bare lymphocyte syndrome, type II, complementation group E; 209920; RFX5 Barth syndrome; 302060; TAZ Bart–Pumphrey syndrome; 149200; GJB2 Bartter syndrome, type 1; 601678; SLC12A1 Bartter syndrome, type 2; 241200; KCNJ1 Bartter syndrome, type 3; 607364; CLCNKB Bartter syndrome, type 4, digenic; 602522; CLCNKB Bartter syndrome, type 4a; 602522; BSND Bartter syndrome, type 4b, digenic; 613090; CLCNKA Basal cell carcinoma, somatic; 605462; PTCH1 Basal cell carcinoma, somatic; 605462; PTCH2 Basal cell carcinoma, somatic; 605462; RASA1 Basal cell nevus syndrome; 109400; PTCH1 Basal ganglia disease, biotin-responsive; 607483; SLC19A3 Basal laminar drusen; 126700; HF1 BCG and salmonella infection, disseminated; 209950; IL12B BCG infection, generalized familial; 209950; IFNGR1 Beare–Stevenson cutis gyrata syndrome; 123790; FGFR2 Becker muscular dystrophy; 300376; DMD Beckwith–Wiedemann syndrome; 130650; CDKN1C Beckwith–Wiedemann syndrome; 130650; H19 Beckwith–Wiedemann syndrome; 130650; KCNQ10T1 Beckwith–Wiedemann syndrome; 130650; NSD1 Bernard–Soulier syndrome, benign autosomal dominant; 153670; GP1BA Bernard–Soulier syndrome, type A; 231200; GP1BA Bernard–Soulier syndrome, type B; 231200; GP1BB Bernard–Soulier syndrome, type C; 231200; GP9 Best macular dystrophy; 153700; BEST1 Bestrophinopathy; 611809; BEST1 Beta-ureidopropionase deficiency; 613161; UPB1 Bethlem myopathy; 158810; COL6A1 Bethlem myopathy; 158810; COL6A2 Bethlem myopathy; 158810; COL6A3 Bietti crystalline corneoretinal dystrophy; 210370; CYP4V2 Bifid nose with or without anorectal and renal anomalies; 608980; FREM1 Bile acid malabsorption, primary; 613291; SLC10A2 Bile acid synthesis defect, congenital, 2; 235555; AKR1D1 Bile acid synthesis defect, congenital, 4; 214950; AMACR Biotinidase deficiency; 253260; BTD Birk–Barel mental retardation dysmorphism syndrome; 612292; KCNK9 Birt–Hogg–Dubé syndrome; 135150; FLCN Björnstad syndrome; 262000; BCS1L Bladder cancer; 109800; KRAS Bladder cancer; 109800; RB1 Bladder cancer, somatic; 109800; FGFR3 Blau syndrome; 186580; NOD2 Bleeding disorder due to P2RY12 defect; 609821; P2RY12 Blepharophimosis, epicanthus inversus, and ptosis, type 1; 110100; FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 2; 110100; FOXL2 Blood group--Lutheran inhibitor; 111150; KLF1 Bloom syndrome; 210900; RECQL3 Blue cone monochromacy; 303700; OPN1MW Blue cone monochromacy; 303700; OPN1LW Boomerang dysplasia; 112310; FLNB Börjeson–Forssman–Lehmann syndrome; 301900; PHF6 Bosley–Salih–Alorainy syndrome; 601536; HOXA1 Bothnia retinal dystrophy; 607475; RLBP1 Bowen–Conradi syndrome; 211180; EMG1 Brachiootic syndrome 3; 608389; SIX1 Brachydactyly type A1; 112500; BDA1B Brachydactyly type A1; 112500; IHH Brachydactyly type A2; 112600; BMPR1B Brachydactyly type A2; 112600; GDF5 Brachydactyly type B1; 113000; ROR2 Brachydactyly type B2; 611377; NOG Brachydactyly type C; 113100; GDF5 Brachydactyly type D; 113200; HOXD13 Brachydactyly type E; 113300; HOXD13 Brachydactyly type E2; 613382; PTHLH Brachydactyly-syndactyly syndrome; 610713; HOXD13 Brachyolmia type 3; 113500; TRPV4 Bradyopsia; 608415; RGS9 Bradyopsia; 608415; RGS9BP Brain small vessel disease with Axenfeld-Rieger anomaly; 607595; COL4A1 Brain small vessel disease with hemorrhage; 607595; COL4A1 Branchiooculofacial syndrome; 113620; TFAP2A Branchiootorenal syndrome 2; 610896; SIX5 Branchiootorenal syndrome with cataract; 113650; EYA1 Branchiootorenal syndrome; 113650; EYA1 Breast cancer; 114480; PPM1D Breast cancer; 114480; SLC22A1L Breast cancer; 114480; TP53 Breast cancer, early-onset; 114480; BRIP1 Breast cancer, invasive ductal; 114480; RAD54L Breast cancer, somatic; 114480; AKT1 Breast cancer, somatic; 114480; KRAS Breast cancer, somatic; 114480; PIK3CA Breast cancer, somatic; 114480; RB1CC1 Brittle cornea syndrome; 229200; ZNF469 Brody myopathy; 601003; ATP2A1 Bronchiectasis with or without elevated sweat chloride 1; 211400; SCNN1B Bronchiectasis with or without elevated sweat chloride 2; 613021; SCNN1A Bronchiectasis with or without elevated sweat chloride 3; 613071; SCNN1G Brooke–Spiegler syndrome; 605041; CYLD1 Brown–Vialetto–Van Laere syndrome; 211530; C20orf54 Bruck syndrome 2; 609220; PLOD2 Brugada syndrome 1; 601144; SCN5A Brugada syndrome 2; 611777; GPD1L Brugada syndrome 3; 611875; CACNA1C Brugada syndrome 4; 611876; CACNB2 Brugada syndrome 5; 612838; SCN1B Brugada syndrome 6; 613119; KCNE3 Brugada syndrome 7; 613120; SCN3B Brugada syndrome 8; 613123; HCN4 Brunner syndrome; 300615; MAOA Burkitt's lymphoma; 113970; MYC Buschke–Ollendorff syndrome; 166700; LEMD3 C syndrome; 211750; CD96 C5 deficiency; 609536; C5 C6 deficiency; 612446; C6 C7 deficiency; 610102; C7 Caffey disease; 114000; COL1A1 Campomelic dysplasia with autosomal sex reversal; 114290; SOX9 Campomelic dysplasia; 114290; SOX9 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4 Camurati–Engelmann disease; 131300; TGFB1 Canavan disease; 271900; ASPA Candidiasis, familial chronic mucocutaneous, autosomal dominant; 613108; CLEC7A Candidiasis, familial chronic mucocutaneous, autosomal recessive; 212050; CARD9 Capillary malformation-arteriovenous malformation; 608354; RASA1 Carbamoyl phosphate synthetase I deficiency; 237300; CPS1 Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; MPI Carboxypeptidase N deficiency; 212070; CPN1 Carcinoid tumors, intestinal; 114900; SDHD Cardiac arrhythmia, ankyrin-B-related; 600919; ANK2 Cardiac conduction defect, nonspecific; 612838; SCN1B Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; 604377; SCO2 Cardiofaciocutaneous syndrome; 115150; BRAF Cardiofaciocutaneous syndrome; 115150; KRAS Cardiofaciocutaneous syndrome; 115150; MAP2K1 Cardiofaciocutaneous syndrome; 115150; MAP2K2 Cardiomyopathy, dilated 1C; 601493; LDB3 Cardiomyopathy, dilated; 115200; MYBPC3 Cardiomyopathy, dilated, 1A; 115200; LMNA Cardiomyopathy, dilated, 1AA; 612158; ACTN2 Cardiomyopathy, dilated, 1BB; 612877; DSG2 Cardiomyopathy, dilated, 1CC; 613122; NEXN Cardiomyopathy, dilated, 1D; 601494; TNNT2 Cardiomyopathy, dilated, 1DD; 613172; RBM20 Cardiomyopathy, dilated, 1E; 601154; SCN5A Cardiomyopathy, dilated, 1EE; 613252; MYH6 Cardiomyopathy, dilated, 1FF; 613286; TNNI3 Cardiomyopathy, dilated, 1G; 604145; TTN Cardiomyopathy, dilated, 1GG; 613642; SDHA Cardiomyopathy, dilated, 1I; 604765; DES Cardiomyopathy, dilated, 1J; 605362; EYA4 Cardiomyopathy, dilated, 1L; 606685; SGCD Cardiomyopathy, dilated, 1M; 607482; CSRP3 Cardiomyopathy, dilated, 1N; 607487; TCAP Cardiomyopathy, dilated, 1O; 608569; ABCC9 Cardiomyopathy, dilated, 1P; 609909; PLN Cardiomyopathy, dilated, 1R; 613424; ACTC1 Cardiomyopathy, dilated, 1S; 613426; MYH7 Cardiomyopathy, dilated, 1W; 611407; VCL Cardiomyopathy, dilated, 1X; 611615; FKTN Cardiomyopathy, dilated, 1Y; 611878; TPM1 Cardiomyopathy, dilated, 1Z; 611879; TNNC1 Cardiomyopathy, dilated, 2A; 611880; TNNI3 Cardiomyopathy, dilated, 3A; 300069; TAZ Cardiomyopathy, dilated, 3B; 302045; DMD Cardiomyopathy, familial hypertrophic, 1; 192600; MYH7 Cardiomyopathy, familial hypertrophic, 10; 608758; MYL2 Cardiomyopathy, familial hypertrophic, 11; 612098; ACTC1 Cardiomyopathy, familial hypertrophic, 12; 612124; CSRP3 Cardiomyopathy, familial hypertrophic, 13; 613243; TNNC1 Cardiomyopathy, familial hypertrophic, 14; 613251; MYH6 Cardiomyopathy, familial hypertrophic, 15; 613255; VCL Cardiomyopathy, familial hypertrophic; 192600; CAV3 Cardiomyopathy, familial hypertrophic; 192600; SLC25A4 Cardiomyopathy, familial hypertrophic, 2; 115195; TNNT2 Cardiomyopathy, familial hypertrophic, 3; 115196; TPM1 Cardiomyopathy, familial hypertrophic, 4; 115197; MYBPC3 Cardiomyopathy, familial hypertrophic, 8; 608751; MYL3 Cardiomyopathy, familial restrictive; 115210; TNNI3 Cardiomyopathy, familial restrictive, 3; 612422; TNNT2 Cardiomyopathy, hypertrophic 6, with WPW; 600858; PRKAG2 Cardiomyopathy, hypertrophic, midventricular, digenic; 192600; MYLK2 Carney complex variant; 608837; MYH8 Carney complex, type 1; 160980; PRKAR1A Carnitine deficiency, systemic primary; 212140; SLC22A5 Carotid intimal medial thickness 1; 609338; PPARG Carpal tunnel syndrome, familial; 115430; TTR Carpenter syndrome; 201000; RAB23 Cartilage–hair hypoplasia; 250250; RMRP Cataract with late-onset corneal dystrophy; 604219; PAX6 Cataract, autosomal dominant, multiple types 1; 611597; BFSP2 Cataract, cerulean, type 2; 601547; CRYBB2 Cataract, congenital nuclear, 2; 609741; CRYBB3 Cataract, congenital nuclear, autosomal recessive 3; 611544; CRYBB1 Cataract, congenital zonular, with sutural opacities; 600881; CRYBA1 Cataract, congenital; 604219; BFSP2 Cataract, congenital, cerulean type, 3; 608983; CRYGD Cataract, congenital, X-linked; 302200; NHS Cataract, Coppock-like; 604307; CRYBB2 Cataract, Coppock-like; 604307; CRYGC Cataract, cortical, juvenile-onset; 611391; BFSP1 Cataract, crystalline aculeiform; 115700; CRYGD Cataract, juvenile, with microcornea and glucosuria; 612018; SLC16A12 Cataract, juvenile-onset; 604219; BFSP2 Cataract, lamellar 2; 610425; CRYBA4 Cataract, lamellar; 116800; HSF4 Cataract, Marner type; 116800; HSF4 Cataract, nonnuclear polymorphic congenital; 601286; CRYGD Cataract, polymorphic and lamellar; 604219; MIP Cataract, posterior polar, 1; 613020; EPHA2 Cataract, posterior polar, 3; 605387; CHMP4B Cataract, posterior polar, 4; 610623; PITX3 Cataract, posterior polar, 4, syndromic; 610623; PITX3 Cataract, sutural, with punctate and cerulean opacities; 607133; CRYBB2 Cataract, zonular pulverulent-1; 116200; GJA8 Cataract, zonular pulverulent-3; 601885; GJA3 Cataract-microcornea syndrome; 116150; GJA8 CATSHL syndrome; 610474; FGFR3 Caudal duplication anomaly; 607864; AXIN1 Caudal regression syndrome; 600145; VANGL1 Cavernous malformations of CNS and retina; 116860; CCM1 CD59 deficiency; 612300; CD59 CD8 deficiency, familial; 608957; CD8A Cenani–Lenz syndactyly syndrome; 212780; LRP4 Central core disease; 117000; RYR1 Central hypoventilation syndrome; 209880; GDNF Central hypoventilation syndrome, congenital; 209880; ASCL1 Central hypoventilation syndrome, congenital; 209880; BDNF Central hypoventilation syndrome, congenital; 209880; EDN3 Central hypoventilation syndrome, congenital; 209880; PMX2B Central hypoventilation syndrome, congenital; 209880; RET Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; 613227; CA8 Cerebellar ataxia; 604290; CP Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; 224050; VLDLR Cerebral amyloid angiopathy; 105150; CST3 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; 605714; APP Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; 125310; NOTCH3 Cerebral cavernous malformations 3; 603285; PDCD10 Cerebral cavernous malformations-1; 116860; CCM1 Cerebral cavernous malformations-2; 603284; C7orf22 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; 609528; SNAP29 Cerebral palsy, spastic quadriplegic, 3; 612936; AP4M1 Cerebral palsy, spastic quadriplegic; 612900; KANK1 Cerebral palsy, spastic, symmetric, autosomal recessive; 603513; GAD1 Cerebrocostomandibular-like syndrome; 611209; COG1 Cerebrooculofacioskeletal syndrome 1; 214150; ERCC6 Cerebrooculofacioskeletal syndrome 2; 610756; ERCC2 Cerebrooculofacioskeletal syndrome 4; 610758; ERCC1 Cerebrotendinous xanthomatosis; 213700; CYP27A1 Ceroid lipofuscinosis, neuronal 8; 600143; CLN8 Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD Ceroid lipofuscinosis, neuronal, 7; 610951; MFSD8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; CLN8 Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1 Ceroid-lipofuscinosis, neuronal 2, classic late infantile; 204500; TPP1 Ceroid lipofuscinosis, neuronal 3, juvenile; 204200; CLN3 Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5 Ceroid-lipofuscinosis, neuronal-6, variant late infantile; 601780; CLN6 Cervical cancer, somatic; 603956; FGFR3 Chanarin–Dorfman syndrome; 275630; ABHD5 Char syndrome; 169100; TFAP2B Charcot–Marie–Tooth disease, axonal, type 2F; 606595; HSPB1 Charcot–Marie–Tooth disease, axonal, type 2K; 607831; GDAP1 Charcot–Marie–Tooth disease, axonal, type 2L; 608673; HSPB8 Charcot–Marie–Tooth disease, axonal, type 2M; 606482; DNM2 Charcot–Marie–Tooth disease, axonal, type 2N; 613287; AARS Charcot–Marie–Tooth disease, axonal, with vocal cord paresis; 607706; GDAP1 Charcot–Marie–Tooth disease, dominant intermediate 3; 607791; MPZ Charcot–Marie–Tooth disease, dominant intermediate B; 606482; DNM2 Charcot–Marie–Tooth disease, dominant intermediate C; 608323; YARS Charcot–Marie–Tooth disease, recessive intermediate, A; 608340; GDAP1 Charcot–Marie–Tooth disease, recessive intermediate, B; 613641; KARS Charcot–Marie–Tooth disease type 1A; 118220; PMP22 Charcot–Marie–Tooth disease type 1B; 118200; MPZ Charcot–Marie–Tooth disease type 1C; 601098; LITAF Charcot–Marie–Tooth disease type 1D; 607678; EGR2 Charcot–Marie–Tooth disease type 1E; 118300; PMP22 Charcot–Marie–Tooth disease type 1F; 607734; NEFL Charcot–Marie–Tooth disease type 2A1; 118210; KIF1B Charcot–Marie–Tooth disease type 2A2; 609260; MFN2 Charcot–Marie–Tooth disease type 2B; 600882; RAB7 Charcot–Marie–Tooth disease type 2B1; 605588; LMNA Charcot–Marie–Tooth disease type 2B2; 605589; MED25 Charcot–Marie–Tooth disease type 2D; 601472; GARS Charcot–Marie–Tooth disease type 2E; 607684; NEFL Charcot–Marie–Tooth disease type 2I; 607677; MPZ Charcot–Marie–Tooth disease type 2J; 607736; MPZ 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; 145900; PRX Charcot–Marie–Tooth disease type 4H; 609311; FGD4 Charcot–Marie–Tooth disease type 4J; 611228; FIG4 Charcot–Marie–Tooth disease, X-linked recessive, 5; 311070; PRPS1 Charcot–Marie–Tooth neuropathy, X-linked dominant, 1; 302800; GJB1 CHARGE syndrome; 214800; CHD7 CHARGE syndrome; 214800; SEMA3E Chédiak–Higashi syndrome; 214500; CHS1 Cherubism; 118400; SH3BP2 Chilblain lupus; 610448; TREX1 CHILD syndrome; 308050; NSDHL Chloride diarrhea, congenital, Finnish type; 214700; SLC26A3 Cholestasis, benign recurrent intrahepatic, 2; 605479; ABCB11 Cholestasis, benign recurrent intrahepatic; 243300; ATP8B1 Cholestasis, familial intrahepatic, of pregnancy; 147480; ABCB4 Cholestasis, progressive familial intrahepatic 1; 211600; ATP8B1 Cholestasis, progressive familial intrahepatic 2; 601847; ABCB11 Cholestasis, progressive familial intrahepatic 3; 602347; ABCB4 Cholestasis, progressive familial intrahepatic 4; 607765; HSD3B7 Cholesteryl ester storage disease; 278000; LIPA Chondrocalcinosis 2; 118600; ANKH Chondrodysplasia punctata, rhizomelic, type 2; 222765; GNPAT Chondrodysplasia punctata, X-linked dominant; 302960; EBP Chondrodysplasia punctata, X-linked recessive; 302950; ARSL Chondrodysplasia, Blomstrand type; 215045; PTHR1 Chondrodysplasia, Grebe type; 200700; GDF5 Chondrosarcoma; 215300; EXT1 Chondrosarcoma, extraskeletal myxoid; 612237; TAF15 Chondrosarcoma, extraskeletal myxoid; 612237; TFG Chondrosarcoma, extraskeletal myxoid; 612237; CSMF Chorea, hereditary benign; 118700; NKX2-1 Choreoacanthocytosis; 200150; VPS13A Choreoathetosis, hypothyroidism, and neonatal respiratory distress; 610978; NKX2-1 Choroidal dystrophy, central areolar 2; 613105; PRPH2 Choroid plexus papilloma; 260500; TP53 Choroideremia; 303100; CHM Chromosome 22q13.3 deletion syndrome; 606232; SHANK3 Chromosome 5q14.3 deletion syndrome; 613443; MEF2C Chrondrodysplasia, acromesomelic, with genital anomalies; 609441; BMPR1B Chronic granulomatous disease due to deficiency of NCF-1; 233700; NCF1 Chronic granulomatous disease due to deficiency of NCF-2; 233710; NCF2 Chronic granulomatous disease, autosomal, due to deficiency of CYBA; 233690; CYBA Chronic granulomatous disease, X-linked; 306400; CYBB Chylomicron retention disease; 246700; SAR1B Ciliary dyskinesia, primary, 1, with or without situs inversus; 244400; DNAI1 Ciliary dyskinesia, primary, 10; 612518; KTU Ciliary dyskinesia, primary, 11; 612649; RSPH4A Ciliary dyskinesia, primary, 12; 612650; RSPH9 Ciliary dyskinesia, primary, 13; 613193; LRRC50 Ciliary dyskinesia, primary, 3, with or without situs inversus; 608644; DNAH5 Ciliary dyskinesia, primary, 6; 610852; TXNDC3 Ciliary dyskinesia, primary, 7, with or without situs inversus; 611884; DNAH11 Ciliary dyskinesia, primary, 9, with or without situs inversus; 612444; DNAI2 CINCA syndrome; 607115; NLRP3 Cirrhosis, North American Indian childhood type; 604901; CIRH1A Citrullinemia; 215700; ASS1 Citrullinemia, adult-onset type II; 603471; SLC25A13 Citrullinemia, type II, neonatal-onset; 605814; SLC25A13 Cleft lip/palate-ectodermal dysplasia syndrome; 225060; HVEC Cleft palate and mental retardation; 119540; SATB2 Cleft palate with ankyloglossia; 303400; TBX22 Cleft palate, isolated; 119540; UBB Cleidocranial dysplasia; 119600; RUNX2 C-like syndrome; 605039; CD96 Clopidogrel, impaired responsiveness to; 609535; CYP2C Clubfoot, congenital; 119800; PITX1 COACH syndrome; 216360; CC2D2A COACH syndrome; 216360; RPGRIP1L COACH syndrome; 216360; TMEM67 Cockayne syndrome type A; 216400; ERCC8 Cockayne syndrome type B; 133540; ERCC6 Cocoon syndrome; 613630; CHUK Coenzyme Q10 deficiency; 607426; APTX Coenzyme Q10 deficiency; 607426; COQ8A Coenzyme Q10 deficiency; 607426; COQ2 Coenzyme Q10 deficiency; 607426; COQ9 Coenzyme Q10 deficiency; 607426; PDSS1 Coenzyme Q10 deficiency; 607426; PDSS2 Coffin–Lowry syndrome; 303600; RPS6KA3 Cohen syndrome; 216550; COH1 Cold-induced autoinflammatory syndrome, familial; 120100; NLRP3 Cold-induced sweating syndrome 1; 610313; CLCF1 Cold-induced sweating syndrome; 272430; CRLF1 Coloboma of optic nerve; 120430; PAX6 Coloboma, ocular; 120200; PAX6 Coloboma, ocular; 120200; SHH Colon cancer, somatic; 114500; PTPRJ Colorblindness, deutan; 303800; OPN1MW Colorblindness, tritan; 190900; OPN1SW Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; 132600; MUTYH Colorectal cancer; 114500; AXIN2 Colorectal cancer; 114500; BUB1B Colorectal cancer; 114500; EP300 Colorectal cancer; 114500; NRAS Colorectal cancer; 114500; PDGFRL Colorectal cancer; 114500; TP53 Colorectal cancer, hereditary nonpolyposis, type 1; 120435; MSH2 Colorectal cancer, hereditary nonpolyposis, type 2; 609310; MLH1 Colorectal cancer, hereditary nonpolyposis, type I; 613244; EPCAM Colorectal cancer, somatic; 109800; FGFR3 Colorectal cancer, somatic; 114500; AKT1 Colorectal cancer, somatic; 114500; APC Colorectal cancer, somatic; 114500; FLCN Colorectal cancer, somatic; 114500; MLH3 Colorectal cancer, somatic; 114500; PIK3CA Combined cellular and humoral immune defects with granulomas; 233650; RAG1 Combined cellular and humoral immune defects with granulomas; 233650; RAG2 Combined factor V and VIII deficiency; 227300; LMAN1 Combined hyperlipidemia, familial; 144250; LPL Combined immunodeficiency, X-linked, moderate; 312863; IL2RG Combined malonic and methylmalonic aciduria (CMAMMA); 614265; ACSF3 Combined malonic and methylmalonic aciduria (CMAMMA); 248360; MLYCD Combined oxidative phosphorylation deficiency 1; 609060; GFM1 Combined oxidative phosphorylation deficiency 2; 610498; MRPS16 Combined oxidative phosphorylation deficiency 3; 610505; TSFM Combined oxidative phosphorylation deficiency 4; 610678; TUFM Combined oxidative phosphorylation deficiency 5; 611719; MRPS22 Combined oxidative phosphorylation deficiency 6; 300816; AIFM1 Combined SAP deficiency; 611721; PSAP Complement component 4, partial deficiency of; 120790; C1NH Complement factor H deficiency; 609814; HF1 Complement factor I deficiency; 610984; CFI Complex I, mitochondrial respiratory chain, deficiency of; 252010; NDUFS6 Cone dystrophy 4; 613093; PDE6C Cone dystrophy-3; 602093; GUCA1A Cone–rod dystrophy 10; 610283; SEMA4A Cone–rod dystrophy 11; 610381; RAXL1 Cone–rod dystrophy 12; 612657; PROM1 Cone–rod dystrophy 13; 608194; RPGRIP1 Cone–rod dystrophy 14; 602093; GUCA1A Cone–rod dystrophy 15; 613660; CDHR1 Cone–rod dystrophy 3; 604116; ABCA4 Cone–rod dystrophy 5; 600977; PITPNM3 Cone–rod dystrophy; 601777; GUCY2D Cone–rod dystrophy 7; 603649; RIMS1 Cone–rod dystrophy 9; 612775; ADAM9 Cone–rod dystrophy, X-linked, 3; 300476; CACNA1F Cone–rod dystrophy-1; 304020; RPGR Cone–rod retinal dystrophy-2; 120970; CRX Congenital bilateral absence of vas deferens; 277180; CFTR Congenital cataracts, facial dysmorphism, and neuropathy; 604168; CTDP1 Congenital disorder of glycosylation, type Ia; 212065; PMM2 Congenital disorder of glycosylation, type Ic; 603147; ALG6 Congenital disorder of glycosylation, type Id; 601110; ALG3 Congenital disorder of glycosylation, type Ie; 608799; DPM1 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 IIA; 212066; MGAT2 Congenital disorder of glycosylation, type IIb; 606056; GCS1 Congenital disorder of glycosylation type IIc; 266265; SLC35C1 Congenital disorder of glycosylation, type IId; 607091; B4GALT1 Congenital disorder of glycosylation, type IIe; 608779; COG7 Congenital disorder of glycosylation, type IIf; 603585; SLC35A1 Congenital disorder of glycosylation, type IIg; 611209; COG1 Congenital disorder of glycosylation, type IIh; 611182; COG8 Congenital disorder of glycosylation, type IIj; 613489; COG4 Congenital disorder of glycosylation, type Ij; 608093; DPAGT2 Congenital disorder of glycosylation, type Ik; 608540; ALG1 Congenital disorder of glycosylation, type Il; 608776; ALG9 Congenital disorder of glycosylation, type Im; 610768; TMEM15 Congenital disorder of glycosylation, type In; 612015; RFT1 Congenital disorder of glycosylation, type Io; 612937; DPM3 Congenital disorder of glycosylation, type Ip; 612379; SRD5A3 Congenital heart defects, nonsyndromic, 1, X-linked; 306955; ZIC3 Congenital heart disease, nonsyndromic, 2; 612863; TAB2 Conjunctivitis, ligneous; 217090; PLG Conotruncal anomaly face syndrome; 217095; TBX1 Contractural arachnodactyly, congenital; 121050; FBN2 Convulsions, benign familial infantile, 3; 607745; SCN2A1 Convulsions, familial febrile, 4; 604352; GPR98 COPD, rate of decline of lung function in; 606963; MMP1 Coproporphyria; 121300; CPOX Cornea plana congenita, recessive; 217300; KERA Corneal dystrophy polymorphous posterior, 2; 609140; COL8A2 Corneal dystrophy, Avellino type; 607541; TGFBI Corneal dystrophy, congenital stromal; 610048; DCN Corneal dystrophy, crystalline, of Schnyder; 121800; UBIAD1 Corneal dystrophy, epithelial basement membrane; 121820; TGFBI Corneal dystrophy, Fuchs endothelial, 1; 136800; COL8A2 Corneal dystrophy, Fuchs endothelial, 4; 613268; SLC4A11 Corneal dystrophy, Fuchs endothelial, 6; 613270; ZEB1 Corneal dystrophy, gelatinous drop-like; 204870; TACSTD2 Corneal dystrophy, Groenouw type I; 121900; TGFBI Corneal dystrophy, hereditary polymorphous posterior; 122000; VSX1 Corneal dystrophy, lattice type I; 122200; TGFBI Corneal dystrophy, lattice type IIIA; 608471; TGFBI Corneal dystrophy, posterior polymorphous, 3; 609141; ZEB1 Corneal dystrophy, Reis-Bucklers type; 608470; TGFBI Corneal dystrophy, Thiel-Behnke type; 602082; TGFBI Corneal endothelial dystrophy 2; 217700; SLC4A11 Corneal endothelial dystrophy and perceptive deafness; 217400; SLC4A11 Corneal fleck dystrophy; 121850; PIKFYVE Cornelia de Lange syndrome 1; 122470; NIPBL Cornelia de Lange syndrome 2; 300590; DXS423E Cornelia de Lange syndrome 3; 610759; CSPG6 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; 300472; IGBP1 Corpus callosum, partial agenesis of; 304100; L1CAM Cortical dysplasia-focal epilepsy syndrome; 610042; CNTNAP2 Corticosteroid-binding globulin deficiency; 611489; CBG Cortisone reductase deficiency; 604931; H6PD Cortisone reductase deficiency; 604931; HSD11B1 Costello syndrome; 218040; HRAS Coumarin resistance; 122700; CYP2A6 Cousin syndrome; 260660; TBX15 Cowden syndrome; 158350; PTEN Cowden-like syndrome; 612359; SDHB Cowden-like syndrome; 612359; SDHD CPT deficiency, hepatic, type IA; 255120; CPT1A CPT deficiency, hepatic, type II; 600649; CPT2 CPT II deficiency, lethal neonatal; 608836; CPT2 Cranioectodermal dysplasia; 218330; IFT122 Craniofacial-deafness-hand syndrome; 122880; PAX3 Craniofrontonasal dysplasia; 304110; EFNB1 Cranio-lenticulo-sutural dysplasia; 607812; SEC23A Craniometaphyseal dysplasia; 123000; ANKH Cranioosteoarthropathy; 259100; HPGD Craniosynostosis, type 1; 123100; TWIST1 Craniosynostosis, type 2; 604757; MSX2 CRASH syndrome; 303350; L1CAM Creatine deficiency syndrome, X-linked; 300352; SLC6A8 Creatine phosphokinase, elevated serum; 123320; CAV3 Creutzfeldt–Jakob disease; 123400; PRNP Crigler–Najjar syndrome type I; 218800; UGT1A1 Crigler–Najjar syndrome type II; 606785; UGT1A1 Crisponi syndrome; 601378; CRLF1 Crouzon syndrome with acanthosis nigricans; 612247; FGFR3 Crouzon syndrome; 123500; FGFR2 Cryptorchidism, bilateral; 219050; LGR8 Cryptorchidism, idiopathic; 219050; INSL3 Currarino syndrome; 176450; MNX1 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; 613177; LTBP4 Cutis laxa, AD; 123700; ELN Cutis laxa, autosomal dominant; 123700; FBLN5 Cutis laxa, autosomal recessive; 219100; FBLN5 Cutis laxa, autosomal recessive, type I; 219100; EFEMP2 Cutis laxa, autosomal recessive, type II; 219200; ATP6V0A2 Cutis laxa, autosomal recessive, type IIB; 612940; PYCR1 Cutis laxa, recessive, type I; 219100; LOX Cylindromatosis, familial; 132700; CYLD1 Cystathioninuria; 219500; CTH Cystic fibrosis; 219700; CFTR Cystinosis, late-onset juvenile or adolescent nephropathic; 219900; CTNS Cystinosis, nephropathic; 219800; CTNS Cystinosis, ocular nonnephropathic; 219750; CTNS Cystinuria; 220100; SLC3A1 Cystinuria; 220100; SLC7A9 Cytochrome C oxidase deficiency; 220110; COX6B1 D-2-hydroxyglutaric aciduria; 600721; D2HGDH Dandy–Walker malformation; 220200; ZIC1 Dandy–Walker malformation; 220200; ZIC4 Darier disease; 124200; ATP2A2 Darsun syndrome; 612541; G6PC3 D-bifunctional protein deficiency; 261515; HSD17B4 De la Chapelle dysplasia; 256050; SLC26A2 De Sanctis–Cacchione syndrome; 278800; ERCC6 Deafness, autosomal dominant 1; 124900; DIAPH1 Deafness, autosomal dominant 10; 601316; EYA4 Deafness, autosomal dominant 11, neurosensory; 601317; MYO7A Deafness, autosomal dominant 13; 601868; COL11A2 Deafness, autosomal dominant 15; 602459; POU4F3 Deafness, autosomal dominant 17; 603622; MYH9 Deafness, autosomal dominant 20/26; 604717; ACTG1 Deafness, autosomal dominant 22; 606346; MYO6 Deafness, autosomal dominant 23; 605192; SIX1 Deafness, autosomal dominant 25; 605583; SLC17A8 Deafness, autosomal dominant 28; 608641; GRHL2 Deafness, autosomal dominant 2A; 600101; KCNQ4 Deafness, autosomal dominant 2B; 612644; GJB3 Deafness, autosomal dominant 36; 606705; TMC1 Deafness, autosomal dominant 36, with dentinogenesis; 605594; DSPP Deafness, autosomal dominant 3A; 601544; GJB2 Deafness, autosomal dominant 3B; 612643; GJB6 Deafness, autosomal dominant 4; 600652; MYH14 Deafness, autosomal dominant 44; 607453; CCDC50 Deafness, autosomal dominant 48; 607841; MYO1A Deafness, autosomal dominant 5; 600994; DFNA5 Deafness, autosomal dominant 50; 613074; MIR96 Deafness, autosomal dominant 8/12; 601543; TECTA Deafness, autosomal dominant 9; 601369; COCH Deafness, autosomal recessive 10, congenital; 605316; TMPRSS3 Deafness, autosomal recessive 12; 601386; CDH23 Deafness, autosomal recessive 16; 603720; STRC Deafness, autosomal recessive 18; 602092; USH1C Deafness, autosomal recessive 1A; 220290; GJB2 Deafness, autosomal recessive 1B; 612645; GJB6 Deafness, autosomal recessive 2, neurosensory; 600060; MYO7A Deafness, autosomal recessive 21; 603629; TECTA Deafness, autosomal recessive 22; 607039; OTOA Deafness, autosomal recessive 23; 609533; PCDH15 Deafness, autosomal recessive 25; 613285; GRXCR1 Deafness, autosomal recessive 28; 609823; TRIOBP Deafness, autosomal recessive 3; 600316; MYO15A Deafness, autosomal recessive 30; 607101; MYO3A Deafness, autosomal recessive 31; 607084; WHRN Deafness, autosomal recessive 35; 608565; ESRRB Deafness, autosomal recessive 36; 609006; ESPN Deafness, autosomal recessive 37; 607821; MYO6 Deafness, autosomal recessive 39; 608265; HGF Deafness, autosomal recessive 49; 610153; MARVELD2 Deafness, autosomal recessive 53; 609706; COL11A2 Deafness, autosomal recessive 59; 610220; PJVK Deafness, autosomal recessive 6; 600971; TMIE Deafness, autosomal recessive 63; 611451; LRTOMT Deafness, autosomal recessive 67; 610265; LHFPL5 Deafness, autosomal recessive 7; 600974; TMC1 Deafness, autosomal recessive 77; 613079; LOXHD1 Deafness, autosomal recessive 79; 613307; TPRN Deafness, autosomal recessive 8, childhood onset; 601072; TMPRSS3 Deafness, autosomal recessive 84; 613391; PTPRQ Deafness, autosomal recessive 9; 601071; OTOF Deafness, autosomal recessive 91; 613453; SERPINB6 Deafness, autosomal recessive, 24; 611022; RDX Deafness, congenital with inner ear agenesis, microtia, and microdontia; 610706; FGF3 Deafness, digenic GJB2/GJB6; 220290; GJB6 Deafness, digenic, GJB2/GJB3; 220290; GJB3 Deafness, sensorineural, with hypertrophic cardiomyopathy; 606346; MYO6 Deafness, X-linked 1; 304500; PRPS1 Deafness, X-linked 2; 304400; POU3F4 Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; 603528; PIEZO1 Dejerine–Sottas disease; 145900; PMP22 Dejerine–Sottas neuropathy; 145900; EGR2 Dejerine–Sottas neuropathy, autosomal recessive; 145900; PRX Dejerine–Sottas syndrome; 145900; MPZ Dementia, familial British; 176500; ITM2B Dementia, familial Danish; 117300; ITM2B Dementia, familial, nonspecific; 600795; CHMP2B Dementia, frontotemporal; 600274; PSEN1 Dementia, frontotemporal, with or without parkinsonism; 600274; MAPT Dementia, Lewy body; 127750; SNCA Dementia, Lewy body; 127750; SNCB Dent's disease 2; 300555; OCRL Dent's disease; 300009; CLCN5 Dentatorubr–pallidoluysian atrophy; 125370; ATN1 Dentin dysplasia, type II; 125420; DSPP Dentinogenesis imperfecta, Shields type II; 125490; DSPP Dentinogenesis imperfecta, Shields type III; 125500; DSPP Denys–Drash syndrome; 194080; WT1 Dermatopathia pigmentosa reticularis; 125595; KRT14 Desbuquois dysplasia; 251450; CANT1 Desmoid disease, hereditary; 135290; APC Desmosterolosis; 602398; DHCR24 Diabetes insipidus, nephrogenic; 125800; AQP2 Diabetes insipidus, nephrogenic; 304800; AVPR2 Diabetes insipidus, neurohypophyseal; 125700; AVP Diabetes mellitus, gestational; 125851; GCK Diabetes mellitus, insulin-dependent, 2; 125852; INS Diabetes mellitus, insulin-dependent, 20; 612520; HNF1A Diabetes mellitus, insulin-resistant, with acanthosis nigricans; 610549; INSR Diabetes mellitus, ketosis-prone; 612227; PAX4 Diabetes mellitus, neonatal, with congenital hypothyroidism; 610199; GLIS3 Diabetes mellitus, noninsulin-dependent; 125853; ABCC8 Diabetes mellitus, noninsulin-dependent; 125853; HNF1B Diabetes mellitus, noninsulin-dependent, late onset; 125853; GCK Diabetes mellitus, permanent neonatal; 606176; ABCC8 Diabetes mellitus, permanent neonatal; 606176; GCK Diabetes mellitus, permanent neonatal; 606176; INS Diabetes mellitus, permanent neonatal, with cerebellar agenesis; 609069; PTF1A Diabetes mellitus, permanent neonatal, with neurologic features; 606176; KCNJ11 Diabetes mellitus, transient neonatal 2; 610374; ABCC8 Diabetes mellitus, transient neonatal, 1; 601410; ZFP57 Diabetes mellitus, transient neonatal, 3; 610582; KCNJ11 Diabetes mellitus, type 1; 125852; INS Diabetes mellitus, type 2; 125853; PAX4 Diabetes mellitus type II; 125853; AKT2 Diabetes, permanent neonatal; 606176; KCNJ11 Diamond–Blackfan anemia 1; 105650; RPS19 Diamond–Blackfan anemia 10; 613309; RPS26 Diamond-Blackfan anemia 4; 612527; RPS17 Diamond–Blackfan anemia 5; 612528; RPL35A Diamond–Blackfan anemia 6; 612561; RPL5 Diamond–Blackfan anemia 7; 612562; RPL11 Diamond–Blackfan anemia 8; 612563; RPS7 Diamond–Blackfan anemia 9; 613308; RPS10 Diamond–Blackfan anemia; 610629; RPS24 Diaphragmatic hernia 3; 610187; ZFPM2 Diarrhea 3, secretory sodium, congenital, syndromic; 270420; SPINT2 Diarrhea 4, malabsorptive, congenital; 610370; NEUROG3 Diarrhea 5, with tufting enteropathy, congenital; 613217; EPCAM Diastrophic dysplasia; 222600; SLC26A2 Diastrophic dysplasia, broad bone-platyspondylic variant; 222600; SLC26A2 Dicarboxylic aminoaciduria; 222730; SLC1A1 DiGeorge syndrome; 188400; TBX1 Digital clubbing, isolated congenital; 119900; HPGD Dihydropyrimidine dehydrogenase deficiency; 274270; DPYD Dihydropyrimidinuria; 222748; DPYS Dilated cardiomyopathy with woolly hair and keratoderma; 605676; DSP Dimethylglycine dehydrogenase deficiency; 605850; DMGDH Disordered steroidogenesis, isolated; 201750; POR Donnai–Barrow syndrome; 222448; LRP2 Dopamine beta-hydroxylase deficiency; 223360; DBH Dosage-sensitive sex reversal; 300018; DAX1 Double outlet right ventricle; 217095; CFC1 Double outlet right ventricle; 217095; GDF1 Dowling–Degos disease; 179850; KRT5 Doyne honeycomb degeneration of retina; 126600; EFEMP1 Dravet syndrome; 607208; SCN1A Duane retraction syndrome 2; 604356; CHN1 Duane-radial ray syndrome; 607323; SALL4 Dubin–Johnson syndrome; 237500; ABCC2 Duchenne muscular dystrophy; 310200; DMD Dyggve–Melchior–Clausen disease; 223800; DYM Dysautonomia, familial; 223900; IKBKAP Dyschromatosis symmetrica hereditaria; 127400; ADAR Dyserythropoietic anemia with thrombocytopenia; 300367; GATA1 Dyskeratosis congenita; 127550; TERT Dyskeratosis congenita; 224230; NOLA2 Dyskeratosis congenita, autosomal dominant; 127550; TERC Dyskeratosis congenita, autosomal dominant; 127550; TINF2 Dyskeratosis congenita, autosomal recessive; 224230; NOLA3 Dyskeratosis congenita-1; 305000; DKC1 Dyssegmental dysplasia, Silverman-Handmaker type; 224410; HSPG2 Dystonia 16; 612067; PRKRA Dystonia 6, torsion; 602629; THAP1 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; 612716; SPR Dystonia, DOPA-responsive, with or without hyperphenylalainemia; 233910; GCH1 Dystonia, juvenile-onset; 607371; ACTB Dystonia, myoclonic; 159900; DRD2 Dystonia-1, torsion; 128100; DYT1 Dystonia-11, myoclonic; 159900; SGCE Dystonia-12; 128235; ATP1A3 Dystonia-parkinsonism, adult-onset; 612953; PLA2G6 Dystonia-Parkinsonism, X-linked; 314250; TAF1 EBD inversa; 226600; COL7A1 EBD, Bart type; 132000; COL7A1 Ectodermal dysplasia, anhidrotic, autosomal dominant; 129490; EDARADD Ectodermal dysplasia, anhidrotic, autosomal recessive; 224900; EDARADD Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; 612132; NFKBIA Ectodermal dysplasia, anhidrotic, X-linked; 305100; ED1 Ectodermal dysplasia, ectrodactyly, and macular dystrophy; 225280; CDH3 Ectodermal dysplasia, hidrotic; 129500; GJB6 Ectodermal dysplasia, hypohidrotic, autosomal dominant; 129490; EDAR Ectodermal dysplasia, hypohidrotic, autosomal recessive; 224900; EDAR Ectodermal dysplasia, hypohidrotic, with immune deficiency; 300291; IKBKG Ectodermal dysplasia, 'pure' hair-nail type; 602032; KRT85 Ectodermal dysplasia-skin fragility syndrome; 604536; PKP1 Ectodermal dysplasia-syndactyly syndrome 1; 613573; PVRL4 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; 300301; IKBKG Ectopia lentis, familial; 129600; FBN1 Ectopia lentis, isolated, autosomal recessive; 225100; ADAMTSL4 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; 604292; TP63 Ehlers–Danlos due to tenascin X deficiency; 606408; TNXB Ehlers–Danlos syndrome, cardiac valvular form; 225320; COL1A2 Ehlers–Danlos syndrome, hypermobility type; 130020; TNXB Ehlers-Danlos syndrome, musculocontractural type; 601776; CHST14 Ehlers–Danlos syndrome, progeroid form; 130070; B4GALT7 Ehlers–Danlos syndrome, type I; 130000; COL1A1 Ehlers–Danlos syndrome, type I; 130000; COL5A1 Ehlers–Danlos syndrome, type I; 130000; COL5A2 Ehlers–Danlos syndrome, type II; 130010; COL5A1 Ehlers–Danlos syndrome, type III; 130020; COL3A1 Ehlers–Danlos syndrome, type IV; 130050; COL3A1 Ehlers–Danlos syndrome, type VI; 225400; PLOD Ehlers–Danlos syndrome, type VIIA; 130060; COL1A1 Ehlers–Danlos syndrome, type VIIB; 130060; COL1A2 Ehlers–Danlos syndrome, type VIIC; 225410; ADAMTS2 Eiken syndrome; 600002; PTHR1 Elliptocytosis-1; 611804; EPB41 Elliptocytosis-2; 130600; SPTA1 Ellis–van Creveld syndrome; 225500; EVC Ellis–van Creveld syndrome; 225500; LBN Emery–Dreifuss muscular dystrophy 4; 612998; SYNE1 Emery–Dreifuss muscular dystrophy 5; 612999; SYNE2 Emery–Dreifuss muscular dystrophy 6; 300696; FHL1 Emery–Dreifuss muscular dystrophy; 310300; EMD Emery–Dreifuss muscular dystrophy, AD; 181350; LMNA Emery–Dreifuss muscular dystrophy, AR; 181350; LMNA Emphysema due to AAT deficiency; 613490; SERPINA1 Emphysema-cirrhosis, due to AAT deficiency; 613490; SERPINA1 Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; 604273; TMEM70 Encephalopathy, familial, with neuroserpin inclusion bodies; 604218; SERPINI1 Encephalopathy, neonatal severe; 300673; MECP2 Endocrine-cerebroosteodysplasia; 612651; ICK Endometrial cancer; 608089; MLH3 Endometrial cancer, familial; 608089; MSH6 Endplate acetylcholinesterase deficiency; 603034; COLQ Enhanced S-cone syndrome; 268100; NR2E3 Enlarged vestibular aqueduct; 600791; FOXI1 Enlarged vestibular aqueduct; 600791; SLC26A4 Enterokinase deficiency; 226200; PRSS7 Eosinophil peroxidase deficiency; 261500; EPX Epidermodysplasia verruciformis; 226400; TMC6 Epidermodysplasia verruciformis; 226400; TMC8 Epidermolysis bullosa dystrophica, AD; 131750; COL7A1 Epidermolysis bullosa dystrophica, AR; 226600; COL7A1 Epidermolysis bullosa of hands and feet; 131800; ITGB4 Epidermolysis bullosa pruriginosa; 604129; COL7A1 Epidermolysis bullosa simplex with migratory circinate erythema; 609352; KRT5 Epidermolysis bullosa simplex with mottled pigmentation; 131960; KRT5 Epidermolysis bullosa simplex with pyloric atresia; 612138; PLEC1 Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT14 Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT5 Epidermolysis bullosa simplex, Koebner type; 131900; KRT14 Epidermolysis bullosa simplex, Koebner type; 131900; KRT5 Epidermolysis bullosa simplex, Ogna type; 131950; PLEC1 Epidermolysis bullosa simplex, recessive; 601001; KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT5 Epidermolysis bullosa, generalized atrophic benign; 226650; LAMA3 Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMA3 Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMB3 Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMC2 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; COL17A1 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; ITGB4 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMB3 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMC2 Epidermolysis bullosa, junctional, with pyloric atresia; 226730; ITGB4 Epidermolysis bullosa, junctional, with pyloric stenosis; 226730; ITGA6 Epidermolysis bullosa, lethal acantholytic; 609638; DSP Epidermolysis bullosa, pretibial; 131850; COL7A1 Epidermolytic hyperkeratosis; 113800; KRT1 Epidermolytic hyperkeratosis; 113800; KRT10 Epidermolytic palmoplantar keratoderma; 144200; KRT9 Epilepsy, benign neonatal, type 2; 121201; KCNQ3 Epilepsy, benign, neonatal, type 1; 121200; KCNQ2 Epilepsy, female-restricted, with mental retardation; 300088; PCDH19 Epilepsy, generalized, with febrile seizures plus, type 2; 604233; SCN1A Epilepsy, generalized, with febrile seizures plus, type 3; 604233; GABRG2 Epilepsy, juvenile myoclonic, susceptibility to; 613060; GABRD Epilepsy, myoclonic, Lafora type; 254780; EPM2A Epilepsy, myoclonic, Lafora type; 254780; NHLRC1 Epilepsy, myoclonic, with mental retardation and spasticity; 300432; ARX Epilepsy, neonatal myoclonic, with suppression-burst pattern; 609304; SLC25A22 Epilepsy, nocturnal frontal lobe, 1; 600513; CHRNA4 Epilepsy, nocturnal frontal lobe, 3; 605375; CHRNB2 Epilepsy, nocturnal frontal lobe, type 4; 610353; CHRNA2 Epilepsy, partial, with auditory features; 600512; LGI1 Epilepsy, progressive myoclonic 1; 254800; CSTB Epilepsy, progressive myoclonic 1B; 612437; PRICKLE1 Epilepsy, progressive myoclonic 2B; 254780; NHLRC1 Epilepsy, progressive myoclonic 3; 611726; KCTD7 Epilepsy, pyridoxine-dependent; 266100; ALDH7A1 Epilepsy, severe myoclonic, of infancy; 607208; SCN1A Epilepsy, X-linked, with variable learning disabilities and behavior disorders; 300491; SYN1 Epileptic encephalopathy, early infantile, 1; 308350; ARX Epileptic encephalopathy, early infantile, 2; 300672; CDKL5 Epileptic encephalopathy, early infantile, 4; 612164; STXBP1 Epileptic encephalopathy, early infantile, 5; 613477; SPTAN1 Epileptic encephalopathy, Lennox-Gastaut type; 606369; MAPK10 Epiphyseal dysplasia, multiple 1; 132400; COMP Epiphyseal dysplasia, multiple, 2; 600204; COL9A2 Epiphyseal dysplasia, multiple, 3; 600969; COL9A3 Epiphyseal dysplasia, multiple, 4; 226900; SLC26A2 Epiphyseal dysplasia, multiple, 5; 607078; MATN3 Epiphyseal dysplasia, multiple, with myopia and deafness; 132450; COL2A1 Episodic ataxia, type 2; 108500; CACNA1A Episodic ataxia, type 6; 612656; SLC1A3 Episodic ataxia/myokymia syndrome; 160120; KCNA1 Epstein syndrome; 153650; MYH9 Erythermalgia, primary; 133020; SCN9A Erythrocyte lactate transporter defect; 245340; SLC16A1 Erythrocytosis, familial, 3; 609820; EGLN1 Erythrocytosis, familial, 4; 611783; EPAS1 Erythrokeratodermia variabilis et progressiva; 133200; GJB3 Erythrokeratodermia variabilis with erythema gyratum repens; 133200; GJB4 Escobar syndrome; 265000; CHRNG Esophageal cancer; 133239; DLEC1 Esophageal cancer, somatic; 133239; TGFBR2 Esophageal carcinoma, somatic; 133239; RNF6 Esophageal squamous cell carcinoma; 133239; 40513 Esophageal squamous cell carcinoma; 133239; LZTS1 Esophageal squamous cell carcinoma; 133239; WWOX Ethylmalonic encephalopathy; 602473; ETHE1 Ewing sarcoma; 612219; EWSR1 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; 612714; COX4I2 Exostoses, multiple, type 1; 133700; EXT1 Exostoses, multiple, type 2; 133701; EXT2 Exudative vitreoretinopathy 4; 601813; LRP5 Exudative vitreoretinopathy 5; 613310; TSPAN12 Exudative vitreoretinopathy; 133780; FZD4 Exudative vitreoretinopathy, X-linked; 305390; NDP Fabry disease; 301500; GLA Fabry disease, cardiac variant; 301500; GLA Factor V and factor VIII, combined deficiency of; 227300; MCFD2 Factor V deficiency; 227400; F5 Factor XI deficiency, autosomal dominant; 612416; F11 Factor XI deficiency, autosomal recessive; 612416; F11 Factor XII deficiency; 234000; F12 Factor XIIIA deficiency; 613225; F13A1 Factor XIIIB deficiency; 613235; F13B Failure of tooth eruption, primary; 125350; PTHR1 Familial cold autoinflammatory syndrome 2; 611762; NALP12 Familial Mediterranean fever, AD; 134610; MEFV Familial Mediterranean fever, AR; 249100; MEFV Fanconi anemia, complementation group 0; 613390; RAD51C Fanconi anemia, complementation group A; 227650; FANCA Fanconi anemia, complementation group B; 300514; FAAP95 Fanconi anemia, complementation group D1; 605724; BRCA2 Fanconi anemia, complementation group I; 609053; FANCI Fanconi anemia, complementation group J; 609054; BRIP1 Fanconi anemia, complementation group N; 610832; PALB2 Fanconi renotubular syndrome 2; 613388; SLC34A1 Fanconi–Bickel syndrome; 227810; SLC2A2 Farber lipogranulomatosis; 228000; ASAH1 Fatty liver, acute, of pregnancy; 609016; HADHA Febrile convulsions, familial, 3A; 604403; SCN1A Febrile convulsions, familial, 3B; 604403; SCN9A Febrilel, convulsions, familial; 611277; GABRG2 Fechtner syndrome; 153640; MYH9 Feingold syndrome; 164280; MYCN Fertile eunuch syndrome; 228300; GNRHR Fetal akinesia deformation sequence; 208150; DOK7 Fetal akinesia deformation sequence; 208150; RAPSN Fetal hemoglobin quantitative trait locus 1; 141749; HBG1 Fetal hemoglobin quantitative trait locus 1; 141749; HBG2 FG syndrome 2; 300321; FLNA FG syndrome 4; 300422; CASK Fibrodysplasia ossificans progressiva; 135100; ACVR1 Fibromatosis, gingival; 135300; SOS1 Fibromatosis, gingival, 2; 135300; GINGF2 Fibromatosis, juvenile hyaline; 228600; ANTXR2 Fibrosis of extraocular muscles, congenital, 1; 135700; KIF21A Fibrosis of extraocular muscles, congenital, 2; 602078; PHOX2A Fibrosis of extraocular muscles, congenital, 3A; 600638; TUBB3 Fibrosis of extraocular muscles, congenital, 3B; 135700; KIF21A Fibular hypoplasia and complex brachydactyly; 228900; GDF5 Fish-eye disease; 136120; LCAT Fletcher factor deficiency; 612423; KLKB1 Focal cortical dysplasia, Taylor balloon cell type; 607341; TSC1 Focal dermal hypoplasia; 305600; PORCN Folate malabsorption, hereditary; 229050; SLC46A1 Follicle-stimulating hormone deficiency, isolated; 229070; FSHB Foveal hyperplasia; 136520; PAX6 Foveomacular dystrophy, adult-onset, with choroidal neovascularization; 608161; PRPH2 Fragile X syndrome; 300624; FMR1 Fragile X tremor/ataxia syndrome; 300623; FMR1 Frank–ter Haar syndrome; 249420; SH3PXD2B Fraser syndrome; 219000; FRAS1 Fraser syndrome; 219000; FREM2 Frasier syndrome; 136680; WT1 Friedreich's ataxia with retained reflexes; 229300; FXN Friedreich's ataxia; 229300; FXN Frontometaphyseal dysplasia; 305620; FLNA Frontonasal dysplasia 2; 613451; ALX4 Frontonasal dysplasia 3; 613456; ALX1 Frontorhiny; 136760; ALX3 Frontotemporal lobar degeneration with ubiquitin-positive inclusions; 607485; GRN Frontotemporal lobar degeneration, TARDBP-related; 612069; TARDBP Fructose intolerance; 229600; ALDOB Fructose-1,6-bisphosphatase deficiency; 229700; FBP1 Fucosidosis; 230000; FUCA1 Fuhrmann syndrome; 228930; WNT7A Fumarase deficiency; 606812; FH Fundus albipunctatus; 136880; RDH5 Fundus albipunctatus; 136880; RLBP1 Fundus flavimaculatus; 248200; ABCA4 GABA-transaminase deficiency; 613163; ABAT Galactokinase deficiency with cataracts; 230200; GALK1 Galactose epimerase deficiency; 230350; GALE Galactosemia; 230400; GALT Galactosialidosis; 256540; CTSA Gallbladder disease 1; 600803; ABCB4 Gallbladder disease 4; 611465; ABCG8 GAMT deficiency; 612736; GAMT Gastric cancer, familial diffuse; 137215; CDH1 Gastric cancer, somatic; 137215; APC Gastric cancer, somatic; 137215; CASP10 Gastric cancer, somatic; 137215; ERBB2 Gastric cancer, somatic; 137215; FGFR2 Gastric cancer, somatic; 137215; IRF1 Gastric cancer, somatic; 137215; KLF6 Gastric cancer, somatic; 137215; MUTYH Gastric cancer, somatic; 137215; PIK3CA Gastrointestinal stromal tumor, somatic; 606764; KIT Gastrointestinal stromal tumor, somatic; 606764; PDGFRA Gaucher disease, atypical; 610539; PSAP Gaucher disease, perinatal lethal; 608013; GBA Gaucher disease, type; 230800; GBA Gaucher disease, type II; 230900; GBA Gaucher disease, type III; 231000; GBA Gaucher disease, type IIIC; 231005; GBA Gaze palsy, horizontal, with progressive scoliosis; 607313; ROBO3 Geleophysic dysplasia; 231050; ADAMTSL2 Generalized epilepsy and paroxysmal dyskinesia; 609446; KCNMA1 Generalized epilepsy with febrile seizures plus; 604233; SCN1B Germ cell tumors; 273300; KIT Geroderma osteodysplasticum; 231070; SCYL1BP1 Gerstmann–Sträussler–Scheinker syndrome; 137440; PRNP Ghosal syndrome; 231095; TBXAS1 Giant axonal neuropathy-1; 256850; GAN Gillespie syndrome; 206700; PAX6 Gitelman syndrome; 263800; SLC12A3 Glanzmann thrombasthenia, type A; 273800; ITGA2B Glaucoma 1, open angle, 1O; 613100; NTF4 Glaucoma 1, open angle, E; 137760; OPTN Glaucoma 1, open angle, G; 609887; WDR36 Glaucoma 1A, primary open angle, juvenile-onset; 137750; MYOC Glaucoma 1B, primary open angle, adult onset; 137760; GLC1B Glaucoma 3, primary congenital, D; 613086; LTBP2 Glaucoma 3A, primary congenital; 231300; CYP1B1 Glaucoma, primary open angle, adult-onset; 137760; CYP1B1 Glaucoma, primary open angle, juvenile-onset; 137750; CYP1B1 Glioblastoma, somatic; 137800; ERBB2 Globozoospermia; 102530; GOPC Globozoospermia; 102530; SPATA16 Glomerulocystic kidney disease with hyperuricemia and isosthenuria; 609886; UMOD Glomerulopathy with fibronectin deposits 2; 601894; FN1 Glomerulosclerosis, focal segmental, 1; 603278; ACTN4 Glomerulosclerosis, focal segmental, 2; 603965; TRPC6 Glomerulosclerosis, focal segmental, 3; 607832; CD2AP Glomerulosclerosis, focal segmental, 5; 613237; INF2 Glomuvenous malformations; 138000; GLML Glucocorticoid deficiency 2; 607398; MRAP Glucocorticoid deficiency, due to ACTH unresponsiveness; 202200; MC2R Glucose-galactose malabsorption; 606824; SLC5A1 GLUT1 deficiency syndrome 1; 606777; SLC2A1 GLUT1 deficiency syndrome 2; 612126; SLC2A1 Glutamate formiminotransferase deficiency; 229100; FTCD Glutamine deficiency, congenital; 610015; GLUL Glutaricaciduria, type I; 231670; GCDH Glutaricaciduria, type IIA; 231680; ETFA Glutaricaciduria, type IIB; 231680; ETFB Glutaricaciduria, type IIC; 231680; ETFDH Glutathione synthetase deficiency; 266130; GSS Glycerol kinase deficiency; 307030; GK Glycine encephalopathy; 605899; AMT Glycine encephalopathy; 605899; GCSH Glycine encephalopathy; 605899; GLDC Glycine N-methyltransferase deficiency; 606664; GNMT Glycogen storage disease 0, muscle; 611556; GYS1 Glycogen storage disease Ib; 232220; SLC37A4 Glycogen storage disease Ic; 232240; SLC37A4 Glycogen storage disease Ic; 232240; SLC17A3 Glycogen storage disease II; 232300; GAA Glycogen storage disease IIb; 300257; LAMP2 Glycogen storage disease IIIa; 232400; AGL Glycogen storage disease IIIb; 232400; AGL Glycogen storage disease IV; 232500; GBE1 Glycogen storage disease IXc; 613027; PHKG2 Glycogen storage disease of heart, lethal congenital; 261740; PRKAG2 Glycogen storage disease VII; 232800; PFKM Glycogen storage disease X; 261670; PGAM2 Glycogen storage disease XI; 612933; LDHA Glycogen storage disease XII; 611881; ALDOA Glycogen storage disease XIII; 612932; ENO3 Glycogen storage disease XIV; 612934; PGM1 Glycogen storage disease XV; 613507; GYG1 Glycogen storage disease type 0; 240600; GYS2 Glycogen storage disease, type IXa1; 306000; PHKA2 Glycogen storage disease, type IXa2; 306000; PHKA2 Glycosylphosphatidylinositol deficiency; 610293; PIGM GM1-gangliosidosis, type I; 230500; GLB1 GM1-gangliosidosis, type II; 230600; GLB1 GM1-gangliosidosis, type III; 230650; GLB1 GM2-gangliosidosis, AB variant; 272750; GM2A GM2-gangliosidosis, several forms; 272800; HEXA Gnathodiaphyseal dysplasia; 166260; ANO5 Goldberg–Shpritzen megacolon syndrome; 609460; KIAA1279 Gout, PRPS-related; 300661; PRPS1 GRACILE syndrome; 603358; BCS1L Greenberg dysplasia; 215140; LBR Greig cephalopolysyndactyly syndrome; 175700; GLI3 Griscelli syndrome type 1; 214450; MYO5A Griscelli syndrome type 2; 607624; RAB27A Griscelli syndrome type 3; 609227; MLPH Growth hormone deficiency with pituitary anomalies; 182230; HESX1 Growth hormone deficiency, isolated, type IA; 262400; GH1 Growth hormone deficiency, isolated, type IB; 612781; GH1 Growth hormone deficiency, isolated, type IB; 612781; GHRHR Growth hormone deficiency, isolated, type II; 173100; GH1 Growth hormone insensitivity with immunodeficiency; 245590; STAT5B Growth retardation with deafness and mental retardation due to IGF1 deficiency; 608747; IGF1 Growth retardation, developmental delay, coarse facies, and early death; 612938; FTO Guttmacher syndrome; 176305; HOXA13 Gyrate atrophy of choroid and retina with or without ornithinemia; 258870; OAT Haddad syndrome; 209880; ASCL1 Hailey–Hailey disease; 169600; ATP2C1 Haim–Munk syndrome; 245010; CTSC Hallermann–Streiff syndrome; 234100; GJA1 Hand-foot-uterus Syndrome; 140000; HOXA13 Harderoporphyria; 121300; CPOX HARP syndrome; 607236; PANK2 Hartnup disorder; 234500; SLC6A19 Hawkinsinuria; 140350; HPD Hay–Wells syndrome; 106260; TP63 HDL deficiency, type 2; 604091; ABCA1 Hearing loss, low-frequency sensorineural; 600965; WFS1 Heart block, nonprogressive; 113900; SCN5A Heart block, progressive, type IA; 113900; SCN5A Heinz body anemia; 140700; HBA2 Heinz body anemias, alpha-; 140700; HBA1 Heinz body anemias, beta-; 140700; HBB HELLP syndrome, maternal, of pregnancy; 609016; HADHA Hemangioma, capillary infantile, somatic; 602089; FLT4 Hemangioma, capillary infantile, somatic; 602089; KDR Hematopoiesis, cyclic; 162800; ELANE Hematuria, benign familial; 141200; COL4A3 Hemiplegic migraine, familial; 141500; CACNA1A Hemochromatosis, type 2A; 602390; HJV Hemochromatosis, type 2B; 613313; HAMP Hemochromatosis, type 3; 604250; TFR2 Hemochromatosis, type 4; 606069; SLC40A1 Hemolytic anemia due to adenylate kinase deficiency; 612631; AK1 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450; GCLC Hemolytic anemia due to glutathione synthetase deficiency; 231900; GSS Hemolytic anemia due to hexokinase deficiency; 235700; HK1 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; 613470; GPI Hemolytic uremic syndrome, atypical, susceptibility to, 1; 235400; HF1 Hemophagocytic lymphohistiocytosis, familial, 2; 603553; PRF1 Hemophagocytic lymphohistiocytosis, familial, 3; 608898; UNC13D Hemophagocytic lymphohistiocytosis, familial, 4; 603552; STX11 Hemophilia B; 306900; F9 Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; 613490; SERPINA1 Hemosiderosis, systemic, due to aceruloplasminemia; 604290; CP Hennekam lymphangiectasia-lymphedema syndrome; 235510; CCBE1 Hepatic adenoma; 142330; HNF1A Hepatic venoocclusive disease with immunodeficiency; 235550; SP110 Hepatocellular cancer; 114550; PDGFRL Hepatocellular carcinoma; 114550; CTNNB1 Hepatocellular carcinoma; 114550; TP53 Hepatocellular carcinoma, childhood type; 114550; MET Hepatocellular carcinoma, somatic; 114550; AXIN1 Hepatocellular carcinoma, somatic; 114550; CASP8 Hepatocellular carcinoma, somatic; 114550; PIK3CA Hereditary hemorrhagic telangiectasia-1; 187300; ENG Hereditary hemorrhagic telangiectasia-2; 600376; ACVRL1 Hereditary motor and sensory neuropathy VI; 601152; MFN2 Hereditary motor and sensory neuropathy, type IIc; 606071; TRPV4 Hermansky–Pudlak syndrome 1; 203300; HPS1 Hermansky–Pudlak syndrome 2; 608233; AP3B1 Hermansky–Pudlak syndrome 3; 203300; HPS3 Hermansky–Pudlak syndrome 4; 203300; HPS4 Hermansky–Pudlak syndrome 5; 203300; HPS5 Hermansky–Pudlak syndrome 6; 203300; HPS6 Hermansky–Pudlak syndrome 7; 203300; DTNBP1 Hermansky–Pudlak syndrome 8; 203300; BLOC1S3 Heterotaxy, visceral, 1, S-linke; 306955; ZIC3 Heterotaxy, visceral, 2, autosomal; 605376; CFC1 Heterotaxy, visceral, 5; 270100; NODAL Heterotopia, periventricular; 300049; FLNA Heterotopia, periventricular, ED variant; 300537; FLNA Hirschsprung's disease; 142623; GDNF Hirschsprung's disease; 142623; RET Hirschsprung disease, short-segment; 142623; PMX2B Histiocytoma, angiomatoid fibrous, somatic; 612160; CREB1 HMG-CoA synthase-2 deficiency; 605911; HMGCS2 Hodgkin's lymphoma; 236000; KLHDC8B Holocarboxylase synthetase deficiency; 253270; HLCS Holoprosencephaly-2; 157170; SIX3 Holoprosencephaly-3; 142945; SHH Holoprosencephaly-4; 142946; TGIF Holoprosencephaly-5; 609637; ZIC2 Holoprosencephaly-7; 610828; PTCH1 Holoprosencephaly-9; 610829; GLI2 Holt–Oram syndrome; 142900; TBX5 Homocystinuria due to MTHFR deficiency; 236250; MTHFR Homocystinuria, B6-responsive and nonresponsive types; 236200; CBS Homocystinuria, cblD type, variant 1; 277410; C2orf25 Homocystinuria-megaloblastic anemia, cbl E type; 236270; MTRR Hoyeraal–Hreidarsson syndrome; 300240; DKC1 HPRT-related gout; 300323; HPRT1 Huntington's disease; 143100; HTT Huntington disease-like 1; 603218; PRNP Huntington disease-like 2; 606438; JPH3 Hutchinson–Gilford progeria syndrome; 176670; LMNA Hyalinosis, infantile systemic; 236490; ANTXR2 Hydatidiform mole; 231090; NALP7 Hydranencephaly with abnormal genitalia; 300215; ARX Hydrocephalus due to aqueductal stenosis; 307000; L1CAM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; 307000; L1CAM Hydrocephalus with Hirschsprung disease and cleft palate; 142623; L1CAM Hydrolethalus syndrome; 236680; HYLS1 Hyperalphalipoproteinemia; 143470; CETP Hyperbilirubinemia, familial transcient neonatal; 237900; UGT1A1 Hypercarotenemia and vitamin A deficiency, autosomal dominant; 115300; BCMO1 Hypercholanemia, familial; 607748; BAAT Hypercholanemia, familial; 607748; EPHX1 Hypercholanemia, familial; 607748; TJP2 Hypercholesterolemia, due to ligand-defective apo B; 144010; APOB Hypercholesterolemia, familial; 143890; LDLR Hypercholesterolemia, familial, 3; 603776; PCSK9 Hypercholesterolemia, familial, autosomal recessive; 603813; LDLRAP1 Hypercholesterolemia, familial, modification of; 143890; APOA2 Hyperchylomicronemia, late-onset; 144650; APOA5 Hyperekplexia and epilepsy; 300607; ARHGEF9 Hyperekplexia; 149400; GPHN Hyperekplexia; 149400; SLC6A5 Hyperekplexia, autosomal recessive; 149400; GLRB Hypereosinophilic syndrome, idiopathic, resistant to imatinib; 607685; PDGFRA Hyperferritinemia-cataract syndrome; 600886; FTL Hyperfibrinolysis, familial, due to increased release of PLAT; 612348; PLAT Hyperglycinuria; 138500; SLC36A2 Hyperglycinuria; 138500; SLC6A19 Hyperglycinuria; 138500; SLC6A20 Hyper-IgD syndrome; 260920; MVK Hyper-IgE recurrent infection syndrome; 147060; STAT3 Hyper-IgE recurrent infection syndrome, autosomal recessive; 243700; DOCK8 Hyperinsulinemic hypoglycemia, familial, 1; 256450; ABCC8 Hyperinsulinemic hypoglycemia, familial, 2; 601820; KCNJ11 Hyperinsulinemic hypoglycemia, familial, 3; 602485; GCK Hyperinsulinemic hypoglycemia, familial, 4; 609975; HADHSC Hyperinsulinemic hypoglycemia, familial, 5; 609968; INSR Hyperinsulinemic hypoglycemia, familial, 7; 610021; SLC16A1 Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1 Hyperkalemic periodic paralysis, type 2; 613345; SCN4A Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; 116860; CCM1 Hyperlipoproteinemia, type Ib; 207750; APOC2 Hyperlysinemia; 238700; AASS Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; 250850; MAT1A Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; 238970; SLC25A15 Hyperostosis, endosteal; 144750; LRP5 Hyperoxaluria, primary, type 1; 259900; AGXT Hyperoxaluria, primary, type II; 260000; GRHPR Hyperoxaluria, primary, type III; 613616; DHDPSL Hyperparathyroidism, AD; 145000; MEN1 Hyperparathyroidism, familial primary; 145000; HRPT2 Hyperparathyroidism, neonatal; 239200; CASR Hyperparathyroidism-jaw tumor syndrome; 145001; HRPT2 Hyperpehnylalaninemia, BH4-deficient, B; 233910; GCH1 Hyperphenylalaninemia, BH4-deficient, A; 261640; PTS Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia, BH4-deficient, D; 264070; PCBD Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; 612391; SLC29A3 Hyperpigmentation, familial progressive; 145250; KITLG Hyperprolinemia, type I; 239500; PRODH Hyperprolinemia, type II; 239510; ALDH4A1 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; 605115; NR3C2 Hypertension, essential; 145500; PNMT Hypertension, essential; 145500; AGTR1 Hypertension, essential; 145500; PTGIS Hyperthyroidism, familial gestational; 603373; TSHR Hyperthyroidism, nonautoimmune; 609152; TSHR Hypertrophic osteoarthropathy, primary, autosomal recessive; 259100; HPGD Hyperuricemic nephropathy, familial juvenile 1; 162000; UMOD Hyperuricemic nephropathy, familial juvenile 2; 613092; REN Hypoaldosteronism, congenital, due to CMO I deficiency; 203400; CYP11B2 Hypoaldosteronism, congenital, due to CMO II deficiency; 610600; CYP11B2 Hypoalphalipoproteinemia; 604091; APOA1 Hypocalcemia, autosomal dominant; 146200; CASR Hypocalciuric hypercalcemia, type I; 145980; CASR Hypochondroplasia; 146000; FGFR3 Hypoglycemia of infancy, leucine-sensitive; 240800; ABCC8 Hypogonadism, hypogonadotropic; 146110; PROK2 Hypogonadotropic hypogonadism due to GNRH deficiency; 227200; GNRH1 Hypogonadotropic hypogonadism; 146110; CHD7 Hypogonadotropic hypogonadism; 146110; FGFR1 Hypogonadotropic hypogonadism; 146110; KISS1R Hypogonadotropic hypogonadism; 146110; NELF Hypogonadotropic hypogonadism; 146110; TAC3 Hypogonadotropic hypogonadism; 146110; TACR3 Hypokalemic periodic paralysis type 1; 170400; CACNA1S Hypomagnesemia 4, renal; 611718; EGF Hypomagnesemia with secondary hypocalcemia; 602014; TRPM6 Hypomagnesemia, primary; 248250; CLDN16 Hypomagnesemia, renal, with ocular involvement; 248190; CLDN19 Hypomagnesemia-2, renal; 154020; FXYD2 Hypomyelination, global cerebral; 612949; SLC25A12 Hypoparathyroidism, autosomal dominant; 146200; PTH Hypoparathyroidism, autosomal recessive; 146200; PTH Hypoparathyroidism, familial isolated; 146200; GCMB Hypoparathyroidism, sensorineural deafness, and renal dysplasia; 146255; GATA3 Hypoparathyroidism-retardation-dysmorphism syndrome; 241410; TBCE Hypophosphatasia, adult; 146300; ALPL Hypophosphatasia, childhood; 241510; ALPL Hypophosphatasia, infantile; 241500; ALPL Hypophosphatemia, X-linked; 307800; PHEX Hypophosphatemic rickets with hypercalciuria; 241530; SLC34A3 Hypophosphatemic rickets; 300554; CLCN5 Hypophosphatemic rickets, AR; 241520; DMP1 Hypophosphatemic rickets, autosomal dominant; 193100; FGF23 Hypophosphatemic rickets, autosomal recessive, 2; 613312; ENPP1 Hypoplastic left heart syndrome; 241550; GJA1 Hypoproteinemia, hypercatabolic; 241600; B2M Hypospadias 1, X-linked; 300633; AR Hypospadias 2, X-linked; 300758; MAMLD1 Hypothyroidism, congenital, nongoitrous 4; 275100; TSHB Hypothyroidism, congenital nongoitrous, 5; 225250; NKX2E Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; 218700; PAX8 Hypothyroidism, congenital, nongoitrous; 275200; TSHR Hypotrichosis and recurrent skin vesicles; 613102; DSC3 Hypotrichosis simplex of scalp; 146520; CDSN Hypotrichosis, congenital, with juvenile macular dystrophy; 601553; CDH3 Hypotrichosis, hereditary, Marie Unna type, 1; 146550; HR Hypotrichosis, localized, autosomal recessive 2; 604379; LIPH Hypotrichosis, localized, autosomal recessive, 3; 611452; P2RY5 Hypotrichosis, localized, autosomal recessive; 607903; DSG4 Hypotrichosis-lymphedema-telangiectasia syndrome; 607823; SOX18 Hypouricemia, renal, 2; 612076; SLC2A9 Hypouricemia, renal; 220150; SLC22A12 Hystrix-like ichthyosis with deafness; 602540; GJB2 Ichthyosiform erythroderma, congenital; 242100; TGM1 Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOX12B Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOXE3 Ichthyosis bullosa of Siemens; 146800; KRT2 Ichthyosis follicularis, atrichia, and photophobia syndrome; 308205; MBTPS2 Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic; 600962; KRT1 Ichthyosis prematurity syndrome; 608649; SLC27A4 Ichthyosis vulgaris; 146700; FLG Ichthyosis with confetti; 609165; KRT10 Ichthyosis with hypotrichosis; 610765; ST14 Ichthyosis, congenital, autosomal recessive; 612281; ICHYN Ichthyosis, cyclic, with epidermolytic hyperkeratosis; 607602; KRT1 Ichthyosis, cyclic, with epidermolytic hyperkeratosis; 607602; KRT10 Ichthyosis, harlequin; 242500; ABCA12 Ichthyosis, lamellar 2; 601277; ABCA12 Ichthyosis, lamellar, 3; 604777; CYP4F22 Ichthyosis, lamellar, autosomal recessive; 242300; TGM1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; 607626; CLDN1 Ichthyosis, X-linked; 308100; STS Iminoglycinuria, digenic; 242600; SLC36A2 Iminoglycinuria, digenic; 242600; SLC6A19 Iminoglycinuria, digenic; 242600; SLC6A20 Immune dysfunction with T-cell inactivation due to calcium entry defect 1; 612782; ORAI1 Immune dysfunction, with T-cell inactivation due to calcium entry defect 2; 612783; STIM1 Immunodeficiency due to defect in CD3-zeta; 610163; CD247 Immunodeficiency due to defect in MAPBP-interacting protein; 610798; MAPBPIP Immunodeficiency due to purine nucleoside phosphorylase deficiency; 613179; PNP Immunodeficiency with hyper IgM, type 4; 608106; UNG Immunodeficiency with hyper-IgM, type 2; 605258; AICDA Immunodeficiency with hyper-IgM, type 3; 606843; TNFRSF5 Immunodeficiency, common variable, 1; 607594; ICOS Immunodeficiency, common variable, 2; 240500; TNFRSF13B Immunodeficiency, common variable, 3; 613493; CD19 Immunodeficiency, common variable, 4; 613494; TNFRSF13C Immunodeficiency, common variable, 5; 613495; MS4A1 Immunodeficiency, common variable, 6; 613496; CD81 Immunodeficiency, hypogammaglobulinemia, and reduced B cells; 612692; CD79B Immunodeficiency, isolated; 300584; IKBKG Immunodeficiency, X-linked, with hyper-IgM; 308230; TNFSF5 Immunodeficiency–centromeric instability–facial anomalies syndrome; 242860; DNMT3B Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; 304790; FOXP3 Immunoglobulin A deficiency 2; 609529; TNFRSF13B Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; 167320; VCP Inclusion body myopathy, autosomal recessive; 600737; GNE Inclusion body myopathy-3; 605637; MYH2 Incontinentia pigmenti, type II; 308300; IKBKG Infantile neuroaxonal dystrophy 1; 256600; PLA2G6 Inflammatory bowel disease 25; 612567; CRFB4 Insensitivity to pain, channelopathy-associated; 243000; SCN9A Insensitivity to pain, congenital, with anhidrosis; 256800; NTRK1 Insomnia, fatal familial; 600072; PRNP Insulin resistance, severe, digenic; 604367; PPARG Insulin resistance, severe, digenic; 604367; PPP1R3A Insulin-like growth factor I, resistance to; 270450; IGF1R Interleukin 1 receptor antagonist deficiency; 612852; IL1RN Interleukin-2 receptor, alpha chain, deficiency of; 606367; IL2RA Intestinal pseudoobstruction, neuronal; 300048; FLNA Intrinsic factor deficiency; 261000; GIF Invasive pneumococcal disease, recurrent isolated, 1; 610799; IRAK4 IRAK4 deficiency; 607676; IRAK4 Iridogoniodysgenesis, type 1; 601631; FOXC1 Iridogoniodysgenesis, type 2; 137600; PITX2 Iris hypoplasia and glaucoma; 601631; FOXC1 Iron-refractory iron deficiency anemia; 206200; TMPRSS6 Isobutyryl-coenzyme A dehydrogenase deficiency; 611283; ACAD8 Isovaleric acidemia; 243500; IVD IVIC syndrome; 147750; SALL4 Jackson–Weiss syndrome; 123150; FGFR1 Jackson–Weiss syndrome; 123150; FGFR2 Jalili syndrome; 217080; CNNM4 Jensen syndrome; 311150; TIMM8A Jervell and Lange-Nielsen syndrome 2; 612347; KCNE1 Jervell and Lange-Nielsen syndrome; 220400; KCNQ1 Johanson–Blizzard syndrome; 243800; UBR1 Joubert syndrome 1; 213300; INPP5E Joubert syndrome 10; 300804; OFD1 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-3; 608629; AHI1 Juvenile polyposis syndrome, infantile form; 174900; BMPR1A Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; 175050; MADH4 Kallmann syndrome 2; 147950; FGFR1 Kallmann syndrome 3; 244200; PROKR2 Kallmann syndrome 4; 610628; PROK2 Kallmann syndrome 5; 612370; CHD7 Kallmann syndrome 6; 612702; FGF8 Kanzaki disease; 609242; NAGA Karak syndrome; 610217; PLA2G6 Kenny–Caffey syndrome-1; 244460; TBCE Keratitis; 148190; PAX6 Keratitis–ichthyosis–deafness syndrome; 148210; GJB2 Keratoconus; 148300; VSX1 Keratoderma, palmoplantar, with deafness; 148350; GJB2 Keratosis follicularis spinulosa decalvans; 308800; SAT1 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; 601952; POMP Keratosis palmoplantaris striata I; 148700; DSG1 Keratosis palmoplantaris striata II; 612908; DSP Keratosis palmoplantaris striata III; 607654; KRT1 Keratosis, seborrheic, somatic; 182000; PIK3CA Keutel syndrome; 245150; MGP Kindler syndrome; 173650; KIND1 Kleefstra syndrome; 610253; EHMT1 Klippel–Feil syndrome, autosomal dominant; 118100; GDF6 Kniest dysplasia; 156550; COL2A1 Knobloch syndrome, type 1; 267750; COL18A1 Kowarski syndrome; 262650; GH1 Krabbe disease; 245200; GALC Krabbe disease, atypical; 611722; PSAP L-2-hydroxyglutaric aciduria; 236792; L2HGDH Lactase deficiency, congenital; 223000; LCT Lactase persistence/nonpersistence; 223100; MCM6 Lactic acidosis, fatal infantile; 245400; SUCLG1 Lacticacidemia due to PDX1 deficiency; 245349; PDX1 LADD syndrome; 149730; FGF10 LADD syndrome; 149730; FGFR3 Laing distal myopathy; 160500; MYH7 Langer mesomelic dysplasia; 249700; SHOX Langer mesomelic dysplasia; 249700; SHOXY Laron dwarfism; 262500; GHR Larsen syndrome; 150250; FLNB Laryngoonychocutaneous syndrome; 245660; LAMA3 Lathosterolosis; 607330; SC5DL LCHAD deficiency; 609016; HADHA Leber congenital amaurosis 1; 204000; GUCY2D Leber congenital amaurosis 10; 611755; CEP290 Leber congenital amaurosis 12; 610612; RD3 Leber congenital amaurosis 13; 612712; RDH12 Leber congenital amaurosis 14; 613341; LRAT Leber congenital amaurosis 2; 204100; RPE65 Leber congenital amaurosis 3; 604232; SPATA7 Leber congenital amaurosis 4; 604393; AIPL1 Leber congenital amaurosis 5; 604537; LCA5 Left ventricular noncompaction 1, with or without congenital heart defects; 604169; DTNA Left ventricular noncompaction 3, with or without dilated cardiomyopathy; 601493; LDB3 Left ventricular noncompaction 4; 613424; ACTC1 Left ventricular noncompaction 5; 613426; MYH7 Left ventricular noncompaction 6; 601494; TNNT2 Left ventricular noncompaction, X-linked; 300183; TAZ Legius syndrome; 611431; SPRED1 Leigh syndrome due to cytochrome c oxidase deficiency; 256000; COX15 Leigh syndrome due to mitochondrial complex I deficiency; 256000; C8orf38 Leigh syndrome due to mitochondrial complex I deficiency; 256000; NDUFA2 Leigh syndrome; 256000; BCS1L Leigh syndrome; 256000; DLD Leigh syndrome; 256000; NDUFS3 Leigh syndrome; 256000; NDUFS4 Leigh syndrome; 256000; NDUFS7 Leigh syndrome; 256000; NDUFS8 Leigh syndrome; 256000; NDUFV1 Leigh syndrome; 256000; SDHA Leigh syndrome, due to COX deficiency; 256000; SURF1 Leigh syndrome, French-Canadian type; 220111; LRPPRC Leigh syndrome, X-linked; 308930; PDHA1 Leiomyomatosis and renal cell cancer; 605839; FH Leiomyomatosis, diffuse, with Alport syndrome; 308940; COL4A6 LEOPARD syndrome 2; 611554; RAF1 Leopard syndrome; 151100; PTPN11 Leprechaunism; 246200; INSR Léri–Weill dyschondrosteosis; 127300; SHOX Leri–Weill dyschondrosteosis; 127300; SHOXY Lesch–Nyhan syndrome; 300322; HPRT1 Lethal congenital contractural syndrome 2; 607598; ERBB3 Lethal congenital contractural syndrome 3; 611369; PIP5K1C Lethal congenital contracture syndrome 1; 253310; GLE1 Leukemia, acute lymphocytic; 613065; BCR Leukemia, acute myelogenous; 601626; AMLCR2 Leukemia, acute myelogenous; 601626; GMPS Leukemia, acute myelogenous; 601626; JAK2 Leukemia, acute myeloid; 601626; MLF1 Leukemia, acute myeloid; 601626; NSD1 Leukemia, acute myeloid; 601626; SH3GL1 Leukemia, acute myeloid; 601626; AF10 Leukemia, acute myeloid; 601626; ARHGEF12 Leukemia, acute myeloid; 601626; CEBPA Leukemia, acute myeloid; 601626; FLT3 Leukemia, acute myeloid; 601626; KIT Leukemia, acute myeloid; 601626; LPP Leukemia, acute myeloid; 601626; NPM1 Leukemia, acute myeloid; 601626; NUP214 Leukemia, acute myeloid; 601626; PICALM Leukemia, acute myeloid; 601626; RUNX1 Leukemia, acute myeloid; 601626; WHSC1L1 Leukemia, acute myeloid, somatic; 601626; ETV6 Leukemia, acute promyelocytic; 612376; RARA Leukemia, chronic myeloid; 608232; BCR Leukemia, juvenile myelomonocytic; 607785; ARHGAP26 Leukemia, juvenile myelomonocytic; 607785; NF1 Leukemia, juvenile myelomonocytic; 607785; PTPN11 Leukemia, megakaryoblastic, of Down syndrome; 190685; GATA1 Leukemia, megakaryoblastic, with or without Down syndrome; 190685; GATA1 Leukocyte adhesion deficiency; 116920; ITGB2 Leukocyte adhesion deficiency, type III; 612840; KIND3 Leukodystrophy, adult-onset, autosomal dominant; 169500; LMNB1 Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; 612443; FA2H Leukodystrophy, hypomyelinating, 2; 608804; GJC2 Leukodystrophy, hypomyelinating, 4; 612233; HSPD1 Leukodystrophy, hypomyelinating, 5; 610532; FAM126A Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; 611105; DARS2 Leukoencephalopathy with vanishing white matter; 603896; EIF2B1 Leukoencephalopathy with vanishing white matter; 603896; EIF2B2 Leukoencephalopathy with vanishing white matter; 603896; EIF2B3 Leukoencephalopathy with vanishing white matter; 603896; EIF2B5 Leukoencephalopathy, cystic, without megalencephaly; 612951; RNASET2 Leukoencephalopathy with vanishing white matter; 603896; EIF2B4 Leydig cell adenoma, somatic, with precocious puberty; 176410; LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism; 238320; LHCGR Leydig cell hypoplasia with pseudohermaphroditism; 238320; LHCGR Lhermitte–Duclos syndrome; 158350; PTEN Liddle syndrome; 177200; SCNN1B Liddle syndrome; 177200; SCNN1G Li–Fraumeni syndrome; 151623; CDKN2A Li–Fraumeni syndrome; 151623; TP53 Li–Fraumeni syndrome; 609265; CHEK2 Li–Fraumeni-like syndrome; 151623; TP53 LIG4 syndrome; 606593; LIG4 Limb-mammary syndrome; 603543; TP63 Lipase deficiency, combined; 246650; LMF1 Lipodystrophy, congenital generalized, type 1; 608594; AGPAT2 Lipodystrophy, congenital generalized, type 2; 269700; BSCL2 Lipodystrophy, congenital generalized, type 3; 612526; CAV1 Lipodystrophy, congenital generalized, type 4; 613327; PTRF Lipodystrophy, familial partial; 151660; LMNA Lipodystrophy, familial partial, type 3; 604367; PPARG Lipodystrophy, partial, acquired; 608709; LMNB2 Lipoid adrenal hyperplasia; 201710; STAR Lipoid congenital adrenal hyperplasia; 201710; CYP11A Lipoid proteinosis; 247100; ECM1 Lipoprotein glomerulopathy; 611771; APOE Lipoprotein lipase deficiency; 238600; LPL Lissencephaly 3; 611603; TUBA1A Lissencephaly syndrome, Norman–Roberts type; 257320; RELN Lissencephaly, X-linked 2; 300215; ARX Lissencephaly, X-linked; 300067; DCX Lissencephaly-1; 607432; PAFAH1B1 Liver failure, acute infantile; 613070; TRMU Loeys–Dietz syndrome, type 1A; 609192; TGFBR1 Loeys–Dietz syndrome, type 1B; 610168; TGFBR2 Loeys–Dietz syndrome, type 2A; 608967; TGFBR1 Loeys–Dietz syndrome, type 2B; 610380; TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome-10; 611819; SCN4B Long QT syndrome-11; 611820; AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; 611818; CAV3 Lowe syndrome; 309000; OCRL Lujan–Fryns syndrome; 309520; MED12 Lung cancer; 211980; DLEC1 Lung cancer; 211980; RASSF1 Lung cancer; 211980; KRAS Lung cancer; 211980; PPP2R1B Lung cancer; 211980; SLC22A1L Lung cancer, somatic; 211980; MAP3K8 Luteinizing hormone resistance, female; 238320; LHCGR Lymphangioleiomyomatosis; 606690; TSC1 Lymphangioleiomyomatosis, somatic; 606690; TSC2 Lymphedema, hereditary I; 153100; FLT4 Lymphedema, hereditary, IC; 613480; GJC2 Lymphedema–distichiasis syndrome with renal disease and diabetes mellitus; 153400; FOXC2 Lymphedema–distichiasis syndrome; 153400; FOXC2 Lymphoma, non-Hodgkin; 605027; PRF1 Lymphoma, non-Hodgkin, somatic; 605027; RAD54L Lymphoproliferative syndrome, EBV-associated, autosomal, 1; 613011; ITK Lymphoproliferative syndrome, X-linked, 2; 300635; BIRC4 Lymphoproliferative syndrome, X-linked; 308240; SH2D1A Lysinuric protein intolerance; 222700; SLC7A7 Lysosomal acid phosphatase deficiency; 200950; ACP2 Lysyl hydroxylase 3 deficiency; 612394; PLOD3 Machado–Joseph disease; 109150; ATXN3 Macrocephaly, alopecia, cutis laxa, and scoliosis; 613075; RIN2 Macrocephaly/autism syndrome; 605309; PTEN Macrocytic anemia, refractory, due to 5q deletion, somatic; 153550; RPS14 Macrothrombocytopenia and progressive sensorineural deafness; 600208; MYH9 Macrothrombocytopenia; 300367; GATA1 Macrothrombocytopenia, autosomal dominant, TUBB1-related; 613112; TUBB1 Macular corneal dystrophy; 217800; CHST6 Macular degeneration, age-related, 11; 611953; CST3 Macular degeneration, age-related, 2; 153800; ABCA4 Macular degeneration, age-related, 3; 608895; FBLN5 Macular degeneration juvenile; 248200; CNGB3 Macular dystrophy, autosomal dominant, chromosome 6-linked; 600110; ELOVL4 Macular dystrophy, patterned; 169150; PRPH2 Macular dystrophy, retinal, 2; 608051; PROM1 Macular dystrophy, vitelliform; 608161; PRPH2 Majeed syndrome; 609628; LPIN2 Major depressive disorder 1; 608516; MDD1 Major depressive disorder 2; 608516; MDD2 Male infertility with large-headed, multiflagellar, polyploid spermatozoa; 243060; STK13 Male infertility, nonsyndromic, autosomal recessive; 612997; CATSPER1 Malonyl-CoA decarboxylase deficiency; 248360; MLYCD Mandibuloacral dysplasia with type B lipodystrophy; 608612; ZMPSTE24 Mandibuloacral dysplasia; 248370; LMNA Mannosidosis, alpha-, types I and II; 248500; MAN2B1 Mannosidosis, beta; 248510; MANBA Maple syrup urine disease, type Ia; 248600; BCKDHA Maple syrup urine disease, type Ib; 248600; BCKDHB Maple syrup urine disease, type II; 248600; DBT Maple syrup urine disease, type III; 248600; DLD Marfan syndrome; 154700; FBN1 Marinesco–Sjögren syndrome; 248800; SIL1 Maroteaux–Lamy syndrome, several forms; 253200; ARSB Marshall syndrome; 154780; COL11A1 Martsolf syndrome; 212720; RAB3GAP2 MASA syndrome; 303350; L1CAM MASS syndrome; 604308; FBN1 Mast syndrome; 248900; ACP33 Maturity-onset diabetes of the young 6; 606394; NEUROD1 Maturity-onset diabetes of the young, type 10; 613370; INS Maturity-onset diabetes of the young, type 11; 613375; BLK Maturity-onset diabetes of the young, type IX; 612225; PAX4 Maturity-onset diabetes of the young, type VII; 610508; KLF11 Maturity-onset diabetes of the young, type VIII; 609812; CEL May–Hegglin anomaly; 155100; MYH9 McArdle disease; 232600; PYGM McCune–Albright syndrome; 174800; GNAS McKusick–Kaufman syndrome; 236700; MKKS Meacham syndrome; 608978; WT1 Meckel syndrome 7; 267010; NPHP3 Meckel syndrome type 4; 611134; CEP290 Meckel syndrome, type 1; 249000; MKS1 Meckel syndrome, type 3; 607361; TMEM67 Meckel syndrome, type 5; 611561; RPGRIP1L Meckel syndrome, type 6; 612284; CC2D2A Medullary cystic kidney disease 2; 603860; UMOD Medullary thyroid carcinoma; 155240; RET Medullary thyroid carcinoma, familial; 155240; NTRK1 Medulloblastoma; 155255; PTCH2 Medulloblastoma, desmoplastic; 155255; SUFU Meesmann corneal dystrophy; 122100; KRT12 Meesmann corneal dystrophy; 122100; KRT3 Megalencephalic leukoencephalopathy with subcortical cysts; 604004; MLC1 Megaloblastic anemia-1, Finnish type; 261100; CUBN Megaloblastic anemia-1, Norwegian type; 261100; AMN Melanoma and neural system tumor syndrome; 155755; CDKN2A Melanoma; 609048; CDK4 Melanoma, cutaneous malignant, 2; 155601; CDKN2A Meleda disease; 248300; SLURP1 Melnick–Needles syndrome; 309350; FLNA Melorheostosis with osteopoikilosis; 155950; LEMD3 Membranoproliferative glomerulonephritis with CFH deficiency; 609814; HF1 Meningioma; 607174; MN1 Meningioma, NF2-related, somatic; 607174; NF2 Menkes disease; 309400; ATP7A Mental retardation and microcephaly with pontine and cerebellar hypoplasia; 300749; CASK Mental retardation in cri-du-chat syndrome; 123450; CTNND2 Mental retardation syndrome, X-linked, Cabezas type; 300354; CUL4B Mental retardation syndrome, X-linked, Siderius type; 300263; PHF8 Mental retardation, autosomal dominant 1; 156200; MBD5 Mental retardation, autosomal dominant 3; 612580; CDH15 Mental retardation, autosomal dominant 4; 612581; KIRREL3 Mental retardation, autosomal dominant 5; 612621; SYNGAP Mental retardation, autosomal recessive 1; 249500; PRSS12 Mental retardation, autosomal recessive 13; 613192; TRAPPC9 Mental retardation, autosomal recessive 2A; 607417; CRBN Mental retardation, autosomal recessive 3; 608443; CC2D1A Mental retardation, autosomal recessive 7; 611093; TUSC3 Mental retardation, autosomal recessive, 6; 611092; GRIK2 Mental retardation, FRA12A type; 136630; DIP2B Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; 612652; PYCS Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; 613443; MEF2C Mental retardation, truncal obesity, retinal dystrophy, and micropenis; 610156; INPP5E Mental retardation, X-linked 1; 309530; IQSEC2 Mental retardation, X-linked 17/31, microduplication; 300705; HSD17B10 Mental retardation, X-linked 30; 300558; PAK3 Mental retardation, X-linked 36/43/54; 300419; ARX Mental retardation, X-linked 45; 300498; ZNF81 Mental retardation, X-linked 58; 300210; TM4SF2 Mental retardation, X-linked 59; 300630; AP1S2 Mental retardation, X-linked 93; 300659; BRWD3 Mental retardation, X-linked 94; 300699; GRIA3 Mental retardation, X-linked 95; 300716; MAGT1 Mental retardation, X-linked nonspecific; 309541; GDI1 Mental retardation, X-linked nonspecific, 63; 300387; ACSL4 Mental retardation, X-linked nonspecific, type 46; 300436; ARHGEF6 Mental retardation, X-linked syndromic 10; 300220; HSD17B10 Mental retardation, X-linked syndromic, Christianson type; 300243; SLC9A6 Mental retardation, X-linked syndromic, Turner type; 300706; HUWE1 Mental retardation, X-linked, 21/34; 300143; IL1RAPL1 Mental retardation, X-linked; 300495; NLGN4 Mental retardation, X-linked, FRAXE type; 309548; AFF2 Mental retardation, X-linked, Lubs type; 300260; MECP2 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, JARID1C-related; 300534; KDM5C Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; 300486; OPHN1 Mental retardation, X-linked, with epilepsy; 300423; ATP6AP2 Mental retardation, X-linked, with isolated growth hormone deficiency; 300123; SOX3 Mental retardation, X-linked, with or without epilepsy; 300802; SYP Mental retardation, X-linked, ZDHHC9-related; 300799; ZDHHC9 Mental retardation, X-linked-72; 300271; RAB39B Mental retardation, X-linked-9; 309549; FTSJ1 Mental retardation, X-linked-91; 300577; ZDHHC15 Mental retardation-hypotonic facies syndrome, X-linked, 2; 300639; CUL4B Mental retardation-hypotonic facies syndrome, X-linked; 309580; ATRX Mephenytoin poor metabolizer; 609535; CYP2C Metachondromatosis; 156250; PTPN11 Metachromatic leukodystrophy due to SAP-b deficiency; 249900; PSAP Metachromatic leukodystrophy; 250100; ARSA Metaphyseal anadysplasia 1; 602111; MMP13 Metaphyseal anadysplasia 2; 613073; MMP9 Metaphyseal chondrodysplasia, Murk Jansen type; 156400; PTHR1 Metaphyseal dysplasia without hypotrichosis; 250460; RMRP Metatropic dysplasia; 156530; TRPV4 Methemoglobinemia, type I; 250800; CYB5R3 Methemoglobinemia, type II; 250800; CYB5R3 Methemoglobinemia, type IV; 250790; CYB5A Methionine adenosyltransferase deficiency, autosomal recessive; 250850; MAT1A Methylcobalamin deficiency, cblG type; 250940; MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; 277410; C2orf25 Methylmalonic aciduria and homocystinuria, cblF type; 277380; LMBRD1 Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320 Methylmalonic aciduria, cblD type, variant 2; 277410; C2orf25 Methylmalonic aciduria, vitamin B12-responsive; 251100; MMAA Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; 251110; MMAB Methylmalonyl-CoA epimerase deficiency; 251120; MCEE Mevalonic aciduria; 610377; MVK MHC class II deficiency, complementation group B; 209920; RFXANK Micochondrial phosphate carrier deficiency; 610773; SLC25A3 Microcephalic osteodysplastic primordial dwarfism type II; 210720; PCNT Microcephaly and digital abnormalities with normal intelligence; 602585; MYCN Microcephaly, Amish type; 607196; SLC25A19 Microcephaly, autosomal recessive 1; 251200; MCPH1 Microcephaly, primary autosomal recessive, 2; 251200; MCPH2 Microcephaly, primary autosomal recessive, 3; 604804; CDK5RAP2 Microcephaly, primary autosomal recessive, 4; 251200; MCPH4 Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; 608716; ASPM Microcephaly, primary autosomal recessive, 6; 608393; CEMPJ Microcephaly, primary autosomal recessive, 7; 612703; STIL Microcephaly, seizures, and developmental delay; 613402; PNKP Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; 193220; BEST1 Microphthalmia, isolated 2; 610093; CHX10 Microphthalmia, isolated 3; 611038; RAX Microphthalmia, isolated 4; 613094; GDF6 Microphthalmia, isolated 5; 611040; MFRP Microphthalmia, isolated, with cataract 2; 212550; SIX6 Microphthalmia, isolated, with cataract 4; 610426; CRYBA4 Microphthalmia, isolated, with coloboma 3; 610092; CHX10 Microphthalmia, isolated, with coloboma 5; 611638; SHH Microphthalmia, syndromic 2; 300166; BCOR Microphthalmia, syndromic 3; 206900; SOX2 Microphthalmia, syndromic 5; 610125; OTX2 Microphthalmia, syndromic 6; 607932; BMP4 Microphthalmia, syndromic 7; 309801; HCCS Microphthalmia, syndromic 9; 601186; STRA6 Microtia, hearing impairment, and cleft palate; 612290; HOXA2 Microvillus inclusion disease; 251850; MYO5B Migraine, familial basilar; 602481; ATP1A2 Migraine, familial hemiplegic, 2; 602481; ATP1A2 Migraine, familial hemiplegic, 3; 609634; SCN1A Migraine, resistance to; 157300; EDNRA Miller syndrome; 264750; DHODH Minicore myopathy with external ophthalmoplegia; 255320; RYR1 Mirror movements, congenital; 157600; DCC Mirror-image polydactyly; 135750; MIPOL1 Mismatch repair cancer syndrome; 276300; MLH1 Mismatch repair cancer syndrome; 276300; MSH2 Mismatch repair cancer syndrome; 276300; MSH6 Mismatch repair cancer syndrome; 276300; PMS2 Mitochondrial complex 1 deficiency; 252010; C20orf7 Mitochondrial complex I deficiency; 252010; NDUFA1 Mitochondrial complex I deficiency; 252010; NDUFA11 Mitochondrial complex I deficiency; 252010; NDUFAF2 Mitochondrial complex I deficiency; 252010; NDUFAF3 Mitochondrial complex I deficiency; 252010; NDUFAF4 Mitochondrial complex I deficiency; 252010; NDUFS1 Mitochondrial complex I deficiency; 252010; NDUFS2 Mitochondrial complex I deficiency; 252010; NDUFS4 Mitochondrial complex I deficiency; 252010; NDUFV1 Mitochondrial complex I deficiency; 252010; NDUFV2 Mitochondrial complex II deficiency; 252011; SDHAF1 Mitochondrial complex III deficiency; 124000; BCS1L Mitochondrial complex III deficiency; 124000; UQCRB Mitochondrial complex III deficiency; 124000; UQCRQ Mitochondrial complex IV deficiency; 220110; FASTKD2 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; 612073; SUCLA2 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; 612075; RRM2B Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; C10orf2 Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; MPV17 Mitochondrial DNA depletion syndrome, myopathic form; 609560; TK2 Mitochondrial DNA-depletion syndrome, hepatocerebral form; 251880; DGUOK Mitochondrial myopathy and sideroblastic anemia; 600462; PUS1 Mitochondrial neurogastrointestinal encephalomyopathy syndrome; 603041; TYMP Mitochondrial respiratory chain complex II deficiency; 252011; SDHA Miyoshi muscular dystrophy 3; 613319; ANO5 Miyoshi myopathy; 254130; DYSF MNGIE without leukoencephalopathy; 603041; POLG MODY, type I; 125850; HNF4A MODY, type II; 125851; GCK MODY, type III; 600496; HNF1A MODY, type IV; 606392; IPF1 Mohr–Tranebjærg syndrome; 304700; TIMM8A Molybdenum cofactor deficiency, type A; 252150; MOCS1 Molybdenum cofactor deficiency, type B; 252150; MOCS2 Molybdenum cofactor deficiency, type C; 252150; GPHN Monilethrix; 158000; KRT81 Monilethrix; 158000; KRT83 Monilethrix; 158000; KRT86 Mononeuropathy of the median nerve, mild; 613353; SH3TC2 Morning glory disc anomaly; 120430; PAX6 Morquio syndrome B; 253010; GLB1 Mosaic variegated aneuploidy syndrome; 257300; BUB1B Mowat–Wilson syndrome; 235730; ZEB2 Muckle–Wells syndrome; 191900; NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605; GNPTAG Mucolipidosis IV; 252650; MCOLN1 Mucopolysaccharidosis Ih; 607014; IDUA Mucopolysaccharidosis Ih/s; 607015; IDUA Mucopolysaccharidosis Is; 607016; IDUA Mucopolysaccharidosis IVA; 253000; GALNS Mucopolysaccharidosis type IIID; 252940; GNS Mucopolysaccharidosis type IX; 601492; HYAL1 Mucopolysaccharidosis VII; 253220; GUSB Muenke syndrome; 602849; FGFR3 Muir–Torre syndrome; 158320; MLH1 Muir–Torre syndrome; 158320; MSH2 Mulibrey nanism; 253250; TRIM37 Müllerian aplasia and hyperandrogenism; 158330; WNT4 Multiple cutaneous and uterine leiomyomata; 150800; FH Multiple endocrine neoplasia IIA; 171400; RET Multiple endocrine neoplasia IIB; 162300; RET Multiple endocrine neoplasia, type IV; 610755; CDKN1B 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 Multiple synostoses syndrome 3; 612961; FGF9 Muscle glycogenosis; 300559; PHKA1 Muscular dystrophy with epidermolysis bullosa simplex; 226670; PLEC1 Muscular dystrophy, congenital merosin-deficient; 607855; LAMA2 Muscular dystrophy, congenital, due to ITGA7 deficiency; 613204; ITGA7 Muscular dystrophy, congenital, due to partial LAMA2 deficiency; 607855; LAMA2 Muscular dystrophy, limb-girdle, type 1A; 159000; TTID Muscular dystrophy, limb-girdle, type 1B; 159001; LMNA 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 2F; 601287; SGCD Muscular dystrophy, limb-girdle, type 2G; 601954; TCAP Muscular dystrophy, limb-girdle, type 2H; 254110; TRIM32 Muscular dystrophy, limb-girdle, type 2J; 608807; TTN Muscular dystrophy, limb-girdle, type 2L; 611307; ANO5 Muscular dystrophy, limb-girdle, type IC; 607801; CAV3 Muscular dystrophy, rigid spine, 1; 602771; SELENON Myasthenia, limb-girdle, familial; 254300; AGRN Myasthenia, limb-girdle, familial; 254300; DOK7 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNB1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; RAPSN Myasthenic syndrome, congenital, associated with episodic apnea; 254210; CHAT Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; 608931; RAPSN Myasthenic syndrome, fast-channel congenital; 608930; CHRNA1 Myasthenic syndrome, fast-channel congenital; 608930; CHRND Myasthenic syndrome, fast-channel congenital; 608930; CHRNE Myasthenic syndrome, slow-channel congenital; 601462; CHRNA1 Myasthenic syndrome, slow-channel congenital; 601462; CHRNB1 Myasthenic syndrome, slow-channel congenital; 601462; CHRND Myasthenic syndrome, slow-channel congenital; 601462; CHRNE Mycobacterial infection, atypical, familial disseminated; 209950; IFNGR1 Mycobacterial infection, atypical, familial disseminated; 209950; STAT1 Myelofibrosis, idiopathic; 254450; JAK2 Myeloperoxidase deficiency; 254600; MPO Myeloproliferative disorder with eosinophilia; 131440; PDGFRB Myoclonic epilepsy, severe, of infancy; 607208; GABRG2 Myoglobinuria, acute recurrent, autosomal recessive; 268200; LPIN1 Myokymia with neonatal epilepsy; 606437; KCNQ2 Myopathy due to CPT II deficiency; 255110; CPT2 Myopathy with lactic acidosis, hereditary; 255125; ISCU Myopathy, actin, congenital, with excess of thin myofilaments; 161800; ACTA1 Myopathy, cardioskeletal, desmin-related, with cataract; 608810; CRYAB Myopathy, centronuclear; 160150; DNM2 Myopathy, centronuclear; 160150; MYF6 Myopathy, centronuclear, autosomal recessive; 255200; BIN1 Myopathy, congenital, Compton-North; 612540; CNTN1 Myopathy, congenital, with fiber-type disproportion 1; 255310; ACTA1 Myopathy, desmin-related, cardioskeletal; 601419; DES Myopathy, distal 2; 606070; MATR3 Myopathy, distal, with anterior tibial onset; 606768; DYSF Myopathy, early-onset, with fatal cardiomyopathy; 611705; TTN Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; 613076; GFER Myopathy, myofibrillar, BAG3-related; 612954; BAG3 Myopathy, myofibrillar, filamin C-related; 609524; FLNC Myopathy, myofibrillar, ZASP-related; 609452; LDB3 Myopathy, myosin storage; 608358; MYH7 Myopathy, nemaline, 3; 161800; ACTA1 Myopathy, proximal, with early respiratory muscle involvement; 603689; TTN Myopathy, reducing body, X-linked, childhood-onset; 300718; FHL1 Myopathy, reducing body, X-linked, severe early-onset; 300717; FHL1 Myopathy, spheroid body; 182920; TTID Myopathy, X-linked, with postural muscle atrophy; 300696; FHL1 Myosclerosis, congenital; 255600; COL6A2 Myotilinopathy; 609200; TTID Myotonia congenita, atypical, acetazolamide-responsive; 608390; SCN4A Myotonia congenita, dominant; 160800; CLCN1 Myotonia congenita, recessive; 255700; CLCN1 Myotonic dystrophy; 160900; DMPK Myotonic dystrophy, type 2; 602668; ZNF9 Myotubular myopathy, X-linked; 310400; MTM1 Myxoid liposarcoma; 613488; DDIT3 Myxoma, intracardiac; 255960; PRKAR1A N syndrome; 310465; POLA N-Acetylglutamate synthase deficiency; 237310; NAGS Naegeli–Franceschetti–Jadassohn syndrome; 161000; KRT14 Nail–patella syndrome; 161200; LMX1B Nance–Horan syndrome; 302350; NHS Narcolepsy 1; 161400; HCRT Nasopharyngeal carcinoma; 607107; TP53 Nasu–Hakola disease; 221770; TREM2 Nasu–Hakola disease; 221770; TYROBP Naxos disease; 601214; JUP Nemaline myopathy 1, autosomal dominant; 609284; TPM3 Nemaline myopathy 2, autosomal recessive; 256030; NEB Nemaline myopathy 7; 610687; CFL2 Nemaline myopathy; 609285; TPM2 Nemaline myopathy, Amish type; 605355; TNNT1 Nephrogenic syndrome of inappropriate antidiuresis; 300539; AVPR2 Nephrolithiasis, type I; 310468; CLCN5 Nephrolithiasis/osteoporosis, hypophosphatemic, 1; 612286; SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2; 612287; SLC9A3R1 Nephronophthisis 1, juvenile; 256100; NPHP1 Nephronophthisis 2, infantile; 602088; INVS Nephronophthisis 3; 604387; NPHP3 Nephronophthisis 4; 606966; NPHP4 Nephronophthisis 7; 611498; GLIS2 Nephropathy with pretibial epidermolysis bullosa and deafness; 609057; CD151 Nephrosis, congenital, with or without ocular abnormalities; 609049; LAMB2 Nephrotic syndrome, type 1; 256300; NPHS1 Nephrotic syndrome, type 2; 600995; PDCN Nephrotic syndrome, type 3; 610725; PLCE1 Nephrotic syndrome, type 4; 256370; WT1 Netherton syndrome; 256500; SPINK5 Neural tube defect; 182940; VANGL1 Neuroblastoma; 256700; NME1 Neurodegeneration due to cerebral folate transport deficiency; 613068; FOLR1 Neurodegeneration with brain iron accumulation 1; 234200; PANK2 Neurodegeneration with brain iron accumulation 2B; 610217; PLA2G6 Neurodegeneration with brain iron accumulation 3; 606159; FTL Neuroepithelioma; 612219; EWSR1 Neurofibromatosis, familial spinal; 162210; NF1 Neurofibromatosis type 1; 162200; NF1 Neurofibromatosis type 2; 101000; NF2 Neurofibromatosis-Noonan syndrome; 601321; NF1 Neuromuscular disease, congenital, with uniform type 1 fiber; 117000; RYR1 Neuronopathy, distal hereditary motor, type IIC; 613376; HSPB3 Neuronopathy, distal hereditary motor, type VI; 604320; IGHMBP2 Neuropathy, congenital hypomyelinating, 1; 605253; EGR2 Neuropathy, congenital hypomyelinating; 605253; MPZ Neuropathy, distal hereditary motor, type IIA; 158590; HSPB8 Neuropathy, distal hereditary motor, type IIB; 608634; HSPB1 Neuropathy, distal hereditary motor, type V; 600794; BSCL2 Neuropathy, distal hereditary motor, type V; 600794; GARS Neuropathy, distal hereditary motor, type VIIB; 607641; DCTN1 Neuropathy, hereditary sensory and autonomic, type 1; 162400; SPTLC1 Neuropathy, hereditary sensory and autonomic, type II; 201300; WNK1 Neuropathy, hereditary sensory and autonomic, type IIB; 613115; FAM134B Neuropathy, hereditary sensory and autonomic, type V; 608654; NGFB Neuropathy, hereditary sensory, with spastic paraplegia; 256840; CCT5 Neuropathy, hereditary sensory/autonomic, type IC; 613640; SPTLC2 Neuropathy, recurrent, with pressure palsies; 162500; PMP22 Neutral lipid storage disease with myopathy; 610717; PNPLA2 Neutropenia, nonimmune chronic idiopathic, of adults; 607847; GFI1 Neutropenia, severe congenital, autosomal dominant 1; 202700; ELANE Neutropenia, severe congenital, autosomal dominant 2; 613107; GFI1 Neutropenia, severe congenital, autosomal recessive 3; 610738; HAX1 Neutropenia, severe congenital, autosomal recessive 4; 612541; G6PC3 Neutropenia, severe congenital, X-linked; 300299; WAS Neutrophil immunodeficiency syndrome; 608203; RAC2 Neutrophilia, hereditary; 162830; CSF3R Nevo syndrome; 601451; PLOD Nevus, epidermal; 162900; PIK3CA Nevus, epidermal, epidermolytic hyperkeratotic type; 600648; KRT10 Nevus, keratinocytic, nonepidermolytic; 162900; FGFR3 Newfoundland rod-cone dystrophy; 607476; RLBP1 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 Niemann–Pick disease type D; 257220; NPC1 Night blindness, congenital stationary, autosomal dominant 2; 163500; PDE6B Night blindness, congenital stationary, autosomal dominant 3; 610444; GNAT1 Night blindness, congenital stationary, type 1; 310500; CSNB1 Night blindness, congenital stationary, type 1B; 257270; GRM6 Night blindness, congenital stationary, type 2B; 610427; CABP4 Night blindness, congenital stationary, type IC; 613216; TRPM1 Night blindness, congenital stationary, X-linked, type 2A; 300071; CACNA1F Night blindness, congenital stationary, autosomal dominant 1; 610445; RHO Nijmegen breakage syndrome; 251260; NBS1 Nijmegen breakage syndrome-like disorder; 613078; RAD50 Nonaka myopathy; 605820; GNE Non-Hodgkin lymphoma, somatic; 605027; CASP10 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; 211980; EGFR Nonsmall cell lung cancer, somatic; 211980; IRF1 Nonsmall cell lung cancer, somatic; 211980; PIK3CA 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-like syndrome with loose anagen hair; 607721; SHOC2 Norrie disease; 310600; NDP Norum disease; 245900; LCAT Nystagmus 1, congenital, X-linked; 310700; FRMD7 Nystagmus 6, congenital, X-linked; 300814; GPR143 Obesity with impaired prohormone processing; 600955; PCSK1 Obesity, adrenal insufficiency, and red hair due to POMC deficiency; 609734; POMC Obesity, autosomal dominant; 601665; MC4R Obesity, mild, early-onset; 601665; NR0B2 Obesity, severe; 601665; PPARG Obesity, severe; 601665; SIM1 Occipital horn syndrome; 304150; ATP7A Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143 Oculoauricular syndrome; 612109; HMX1 Oculocutaneous albinism, type IV; 606574; SLC45A2 Oculodentodigital dysplasia; 164200; GJA1 Oculodentodigital dysplasia, autosomal recessive; 257850; GJA1 Oculopharyngeal muscular dystrophy; 164300; PABPN1 Odontohypophosphatasia; 146300; ALPL Odontoonychodermal dysplasia; 257980; WNT10A Ogden syndrome; 300855; NAA10 Oguchi disease-1; 258100; SAG Oguchi disease-2; 613411; GRK1 OI type II; 166210; COL1A1 OI type III; 259420; COL1A1 OI type IV; 166220; COL1A1 Oligodontia-colorectal cancer syndrome; 608615; AXIN2 Omenn syndrome; 603554; DCLRE1C Omenn syndrome; 603554; RAG1 Omenn syndrome; 603554; RAG2 Omodysplasia 1; 258315; GPC6 Opitz G syndrome, type I; 300000; MID1 Opitz–Kaveggia syndrome; 305450; MED12 Opremazole poor metabolizer; 609535; CYP2C Optic atrophy 1; 165500; OPA1 Optic atrophy and cataract; 165300; OPA3 Optic atrophy and deafness; 125250; OPA1 Optic atrophy-7; 612989; TMEM126A Optic nerve coloboma with renal disease; 120330; PAX2 Optic nerve hypoplasia and abnormalities of the central nervous system; 206900; SOX2 Optic nerve hypoplasia; 165550; PAX6 Oral-facial-digital syndrome 1; 311200; OFD1 Ornithine transcarbamylase deficiency; 311250; OTC Orofacial cleft 11; 600625; BMP4 Orofacial cleft 5; 608874; MSX1 Orofacial cleft 6; 608864; IRF6 Orofacial cleft 7; 225060; HVEC Orofacial cleft 8; 129400; TP63 Orthostatic intolerance; 604715; SLC6A2 Osseous heteroplasia, progressive; 166350; GNAS Ossification of posterior longitudinal ligament of spine; 602475; ENPP1 Osteoarthritis with mild chondrodysplasia; 604864; COL2A1 Osteochondritis dissecans, short stature, and early-onset osteoarthritis; 165800; ACAN Osteogenesis imperfecta, type I; 166200; COL1A1 Osteogenesis imperfecta, type II; 166210; COL1A2 Osteogenesis imperfecta, type IIB; 610854; CRTAP Osteogenesis imperfecta, type III; 259420; COL1A2 Osteogenesis imperfecta, type IV; 166220; COL1A2 Osteogenesis imperfecta, type IX; 259440; PPIB Osteogenesis imperfecta, type VI; 610698; FKBP10 Osteogenesis imperfecta, type VII; 610682; CRTAP Osteogenesis imperfecta, type VIII; 610915; LEPRE1 Osteoglophonic dysplasia; 166250; FGFR1 Osteolysis, familial expansile; 174810; TNFRSF11A Osteopathia striata with cranial sclerosis; 300373; FAM123B Osteopetrosis, AD type I; 607634; LRP5 Osteopetrosis, autosomal dominant 2; 166600; CLCN7 Osteopetrosis, autosomal recessive 2; 259710; TNFSF11 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; 259730; CA2 Osteopetrosis, autosomal recessive 4; 611490; CLCN7 Osteopetrosis, autosomal recessive 5; 259720; OSTM1 Osteopetrosis, autosomal recessive 6; 611497; PLEKHM1 Osteopetrosis, autosomal recessive 7; 612301; TNFRSF11A Osteopetrosis, recessive 1; 259700; TCIRG1 Osteopoikilosis; 166700; LEMD3 Osteoporosis, involutional; 166710; VDR Osteoporosis-pseudoglioma syndrome; 259770; LRP5 Osteosarcoma; 259500; LOH18CR1 Osteosarcoma; 259500; RB1 Osteosarcoma; 259500; TP53 Osteosarcoma, somatic; 259500; CHEK2 Osteosclerosis; 144750; LRP5 Otofaciocervical syndrome; 166780; EYA1 Otopalatodigital syndrome, type I; 311300; FLNA Otopalatodigital syndrome, type II; 304120; FLNA Otospondylomegaepiphyseal dysplasia; 215150; COL11A2 Ovarian cancer; 167000; CTNNB1 Ovarian cancer, somatic; 604370; AKT1 Ovarian cancer, somatic; 604370; PIK3CA Ovarian dysgenesis 1; 233300; FSHR Ovarian dysgenesis 2; 300510; BMP15 Ovarian hyperstimulation syndrome; 608115; FSHR Ovarian response to FSH stimulation; 276400; FSHR Ovarioleukodystrophy; 603896; EIF2B2 Ovarioleukodystrophy; 603896; EIF2B4 Ovarioleukodystrophy; 603896; EIF2B5 Pachyonychia congenita Jackson Lawler type; 167210; KRT17 Pachyonychia congenita Jackson Lawler type; 167210; KRT6B Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT16 Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT6A Paget disease of bone; 602080; PDB4 Paget disease of bone; 602080; SQSTM1 Paget disease of bone; 602080; TNFRSF11A Paget disease, juvenile; 239000; TNFRSF11B Pallister–Hall syndrome; 146510; GLI3 Palmoplantar hyperkeratosis and true hermaphroditism; 610644; RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; 610644; RSPO1 Palmoplantar keratoderma, nonepidermolytic; 600962; KRT16 Palmoplantar keratoderma, nonepidermolytic, focal; 613000; KRT16 Palmoplantar verrucous nevus, unilateral; 144200; KRT16 Pancreatic agenesis; 260370; IPF1 Pancreatic cancer; 260350; TP53 Pancreatic cancer; 613347; BRCA2 Pancreatic cancer/melanoma syndrome; 606719; CDKN2A Pancreatic carcinoma, somatic; 260350; KRAS Pancreatitis, hereditary; 167800; PRSS1 Pancreatitis, hereditary; 167800; SPINK1 Panhypopituitarism, X-linked; 312000; SOX3 Papillon–Lefèvre syndrome; 245000; CTSC Paraganglioma and gastric stromal sarcoma; 606864; SDHB Paraganglioma and gastric stromal sarcoma; 606864; SDHC Paraganglioma and gastric stromal sarcoma; 606864; SDHD Paraganglioma, familial chromaffin, 4; 115310; SDHB Paragangliomas 2; 601650; SDHAF2 Paragangliomas, familial nonchromaffin, 1, with or without deafness; 168000; SDHD Paragangliomas, familial nonchromaffin, 3; 605373; SDHC Paramyotonia congenita; 168300; SCN4A Parathyroid adenoma with cystic changes; 145001; HRPT2 Parathyroid carcinoma; 608266; HRPT2 Parietal foramina 1; 168500; MSX2 Parietal foramina 2; 609597; ALX4 Parietal foramina with cleidocranial dysplasia; 168550; MSX2 Parkes Weber syndrome; 608355; RASA1 Parkinson disease 11; 607688; GIGYF2 Parkinson disease 13; 610297; HTRA2 Parkinson disease 15, autosomal recessive; 260300; FBXO7 Parkinson disease 4; 605543; SNCA Parkinson disease 6, early onset; 605909; PINK1 Parkinson disease 7, autosomal recessive early-onset; 606324; DJ1 Parkinson disease 9; 606693; ATP13A2 Parkinson disease, juvenile, type 2; 600116; PRKN Parkinson disease-8; 607060; LRRK2 Parkinsonism-dystonia, infantile; 613135; SLC6A3 Paroxysmal extreme pain disorder; 167400; SCN9A Paroxysmal nocturnal hemoglobinuria, somatic; 300818; PIGA Paroxysmal nonkinesigenic dyskinesia; 118800; MR1 Partington syndrome; 309510; ARX PCWH syndrome; 609136; SOX10 Peeling skin syndrome, acral type; 609796; TGM5 Pelger–Huët anomaly; 169400; LBR Pelizaeus–Merzbacher disease; 312080; PLP1 Pendred syndrome; 274600; SLC26A4 Pentosuria; 260800; DCXR Periodic fever, familial; 142680; TNFRSF1A Periodontitis, juvenile; 170650; CTSC Periventricular heterotopia with microcephaly; 608097; ARFGEF2 Peroxisomal acyl-CoA oxidase deficiency; 264470; ACOX1 Perry syndrome; 168605; DCTN1 Persistent Müllerian duct syndrome, type I; 261550; AMH Persistent Müllerian duct syndrome, type II; 261550; AMHR2 Persistent truncus arteriosus; 217095; NKX2-6 Peters anomaly; 604229; CYP1B1 Peters anomaly; 604229; PAX6 Peters anomaly; 604229; PITX2 Peters-plus syndrome; 261540; B3GALTL; B3GTL Peutz–Jeghers syndrome; 175200; STK11 Pfeiffer syndrome; 101600; FGFR1 Pfeiffer syndrome; 101600; FGFR2 Phenylketonuria; 261600; PAH Pheochromocytoma; 171300; KIF1B Pheochromocytoma; 171300; RET Pheochromocytoma; 171300; SDHB Pheochromocytoma; 171300; SDHD Pheochromocytoma; 171300; VHL Phosphoglycerate dehydrogenase deficiency; 601815; PHGDH Phosphoglycerate kinase 1 deficiency; 300653; PGK1 Phosphoribosylpyrophosphate synthetase superactivity; 300661; PRPS1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; 261750; PHKB Phosphoserine aminotransferase deficiency; 610992; PSAT1 Pick disease; 172700; MAPT Pick disease; 172700; PSEN1 Piebaldism; 172800; SNAI2 Pierson syndrome; 609049; LAMB2 Pigmented adrenocortical disease, primary, 1; 610489; PRKAR1A Pigmented nodular adrenocortical disease, primary, 2; 610475; PDE11A Pigmented paravenous chorioretinal atrophy; 172870; CRB1 Pilomatricoma; 132600; CTNNB1 Pitt–Hopkins-like syndrome 1; 610042; CNTNAP2 Pitt–Hopkins syndrome; 610954; TCF4 Pituitary adenoma, ACTH-secreting; 219090; AIP Pituitary adenoma, growth hormone-secreting; 102200; AIP Pituitary adenoma, prolactin-secreting; 600634; AIP Pituitary hormone deficiency, combined, 1; 613038; POU1F1 Pituitary hormone deficiency, combined, 2; 262600; PROP1 Pituitary hormone deficiency, combined, 3; 221750; LHX3 Pituitary hormone deficiency, combined, 4; 262700; LHX4 Pituitary hormone deficiency, combined, 5; 182230; HESX1 Plamoplantar keratoderma, epidermolytic; 144200; KRT1 Plasminogen activator inhibitor, type I; 613329; PAI1 Platelet disorder, familial, with associated myeloid malignancy; 601399; RUNX1 Platelet glycoprotein IV deficiency; 608404; CD36 Pleuropulmonary blastoma; 601200; DICER1 Pneumothorax, primary spontaneous; 173600; FLCN Poikiloderma with neutropenia; 604173; C16orf57 Polycystic kidney and hepatic disease; 263200; FCYT Polycystic kidney disease 2; 613095; PKD2 Polycystic kidney disease, adult type I; 173900; PKD1 Polycystic liver disease; 174050; PRKCSH Polycystic liver disease; 174050; SEC63 Polycystic ovary syndrome; 184700; FST Polycythemia vera; 263300; JAK2 Polycythemia, benign familial; 263400; VHL Polydactyly, postaxial, types A1 and B; 174200; GLI3 Polydactyly, preaxial type II; 174500; LMBR1 Polydactyly, preaxial, type IV; 174700; GLI3 Polyhydramnios, megalencephaly, and symptomatic epilepsy; 611087; STRADA Polymicrogyria with optic nerve hypoplasia; 613180; TUBA8 Polymicrogyria, asymmetric; 610031; TUBB2B Polymicrogyria, bilateral frontoparietal; 606854; GPR56 Polyposis syndrome, hereditary mixed, 2; 610069; BMPR1A Polyposis, juvenile intestinal; 174900; BMPR1A Polyposis, juvenile intestinal; 174900; MADH4 Pontocerebellar hypoplasia type 1; 607596; VRK1 Pontocerebellar hypoplasia type 2A; 277470; TSEN54 Pontocerebellar hypoplasia type 2B; 612389; TSEN2 Pontocerebellar hypoplasia type 2C; 612390; TSEN34 Pontocerebellar hypoplasia type 4; 225753; TSEN54 Pontocerebellar hypoplasia, type 6; 611523; RARS2 Popliteal pterygium syndrome; 119500; IRF6 POR deficiency; 201750; POR Porencephaly; 175780; COL4A1 Porokeratosis, disseminated superficial actinic, 1; 175900; SART3 Porphyria cutanea tarda; 176100; UROD Porphyria variegata; 176200; PPOX Porphyria, acute hepatic; 612740; ALAD Porphyria, acute intermittent; 176000; HMBS Porphyria, acute intermittent, nonerythroid variant; 176000; HMBS Porphyria, congenital erythropoietic; 263700; UROS Porphyria, hepatoerythropoietic; 176100; UROD Prader–Willi syndrome; 176270; NDN Prader–Willi syndrome; 176270; SNRPN Precocious puberty, central; 176400; KISS1R Precocious puberty, male; 176410; LHCGR Premature chromosome condensation with microcephaly and mental retardation; 606858; MCPH1 Premature ovarian failure 2B; 300604; FLJ22792 Premature ovarian failure 3; 608996; FOXL2 Premature ovarian failure 4; 300510; BMP15 Premature ovarian failure 5; 611548; NOBOX Premature ovarian failure 6; 612310; FIGLA Premature ovarian failure 7; 612964; NR5A1 Premature ovarian failure; 300511; DIAPH2 Primary lateral sclerosis, juvenile; 606353; ALS2 Prion disease with protracted course; 606688; PRNP Progesterone resistance; 264080; PGR Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609283; SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609286; C10orf2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; 610131; POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; 613077; RRM2B Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; 157640; POLG Progressive external ophthalmoplegia, autosomal recessive; 258450; POLG Progressive familial heart block, type IB; 604559; TRPM4 Proguanil poor metabolizer; 609535; CYP2C Prolidase deficiency; 170100; PEPD Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; 225790; FLVCR2 Properdin deficiency, X-linked; 312060; PFC Propionicacidemia; 606054; PCCA Propionicacidemia; 606054; PCCB Prostate cancer 1, 176807; 601518; RNASEL Prostate cancer; 176807; BRCA2 Prostate cancer, hereditary; 176807; MSR1 Prostate cancer, progression and metastasis of; 603688; EPHB2 Prostate cancer, somatic; 176807; KLF6 Prostate cancer, somatic; 176807; MAD1L1 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; 308990; CLCN5 Protoporphyria, erythropoietic, autosomal dominant; 177000; FECH Protoporphyria, erythropoietic, autosomal recessive; 177000; FECH Protoporphyria, erythropoietic, X-linked dominant; 300752; ALAS2 Proud syndrome; 300004; ARX Pseudoachondroplasia; 177170; COMP Pseudohermaphroditism, male, with gynecomastia; 264300; HSD17B3 Pseudohyperkalemia, familial; 177720; PIEZO1 Pseudohypoaldosteronism type I, autosomal dominant; 177735; NR3C2 Pseudohypoaldosteronism type II; 145260; WNK4 Pseudohypoaldosteronism, type I; 264350; SCNN1A Pseudohypoaldosteronism, type I; 264350; SCNN1B Pseudohypoaldosteronism, type I; 264350; SCNN1G Pseudohypoaldosteronism, type IIC; 145260; WNK1 Pseudohypoparathyroidism Ia; 103580; GNAS Pseudohypoparathyroidism Ib; 603233; GNAS Pseudohypoparathyroidism Ic; 612462; GNAS Pseudohypoparathyroidism, type IB; 603233; GNASAS Pseudohypoparathyroidism, type IB; 603233; STX16 Pseudovaginal perineoscrotal hypospadias; 264600; SRD5A2 Pseudoxanthoma elasticum; 264800; ABCC6 Pseudoxanthoma elasticum, forme fruste; 177850; ABCC6 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; 610842; GGCX Ptosis, congenital; 178300; ZFHX4 Pulmonary alveolar microlithiasis; 265100; SLC34A2 Pulmonary alveolar proteinosis; 300770; CSF2RA Pulmonary fibrosis, idiopathic; 178500; SFTPA2 Pulmonary hypertension, familial primary; 178600; BMPR2 Pulmonary hypertension, primary; 178600; MADH9 Pulmonary hypertension, primary, fenfluramine-associated; 178600; BMPR2 Pulmonary veno occlusive disease; 265450; BMPR2 Pycnodysostosis; 265800; CTSK Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; 612260; MYD88 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; 604416; PSTPIP1 Pyridoxamine 5'-phosphate oxidase deficiency; 610090; PNPO Pyropoikilocytosis; 266140; SPTA1 Pyruvate carboxylase deficiency; 266150; PC Pyruvate dehydrogenase deficiency; 312170; PDHA1 Pyruvate dehydrogenase E2 deficiency; 245348; DLAT Pyruvate dehydrogenase phosphatase deficiency; 608782; PDP1 Pyruvate kinase deficiency; 266200; PKLR Rabson–Mendenhall syndrome; 262190; INSR Radioulnar synostosis with amegakaryocytic thrombocytopenia; 605432; HOXA11 Raine syndrome; 259775; FAM20C RAPADILINO syndrome; 266280; RECQL4 Rapp–Hodgkin syndrome; 129400; TP63 Recombination rate QTL 1; 612042; RNF212 Refsum disease; 266500; PEX7 Refsum disease; 266500; PHYH Refsum disease, infantile form; 266510; PEX26 Refsum disease, infantile form; 266510; PXMP3 Refsum disease, infantile; 266510; PEX1 Renal adysplasia; 191830; UPK3A Renal agenesis; 191830; RET Renal carcinoma, chromophobe, somatic; 144700; FLCN Renal cell carcinoma; 144700; DIRC2 Renal cell carcinoma; 144700; HNF1A Renal cell carcinoma; 144700; RNF139 Renal cell carcinoma, clear cell, somatic; 144700; OGG1 Renal cell carcinoma, papillary, 1; 605074; PRCC Renal cell carcinoma, papillary, 1; 605074; TFE3 Renal cell carcinoma, papillary, familial and sporadic; 605074; MET Renal cell carcinoma, somatic; 144700; VHL Renal cysts and diabetes syndrome; 137920; HNF1B Renal glucosuria; 233100; SLC5A2 Renal tubular acidosis with deafness; 267300; ATP6B1 Renal tubular acidosis, distal, AD; 179800; SLC4A1 Renal tubular acidosis, distal, AR; 611590; SLC4A1 Renal tubular acidosis, distal, autosomal recessive; 602722; ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities; 604278; SLC4A4 Renal tubular dysgenesis; 267430; ACE Renal tubular dysgenesis; 267430; AGT Renal tubular dysgenesis; 267430; AGTR1 Renal tubular dysgenesis; 267430; REN Renal-hepatic-pancreatic dysplasia; 208540; NPHP3 Renpenning syndrome; 309500; PQBP1 Restrictive dermopathy, lethal; 275210; ZMPSTE24 Reticular dysgenesis; 267500; AK2 Retinal cone dystrophy 3; 610024; PDE6H Retinal cone dystrophy 3B; 610356; KCNV2 Retinal cone dystrophy 4; 610478; CACNA2D4 Retinal degeneration, late-onset, autosomal dominant; 605670; C1QTNF5 Retinal dystrophy, early-onset severe; 248200; ABCA4 Retinal dystrophy, early-onset severe; 613341; LRAT Retinitis pigmentosa 33; 610359; SNRNP200 Retinitis pigmentosa 51; 613464; TTC8 Retinitis pigmentosa 54; 613428; C2orf71 Retinitis pigmentosa 55; 613575; ARL6 Retinitis pigmentosa 58; 613617; ZNF513 Retinitis pigmentosa, concentric; 613194; BEST1 Retinitis pigmentosa, digenic; 608133; PRPH2 Retinitis pigmentosa, juvenile; 613341; LRAT Retinitis pigmentosa, juvenile, autosomal recessive; 268000; SPATA7 Retinitis pigmentosa, late-onset dominant; 268000; CRX Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; 300455; RPGR Retinitis pigmentosa-1; 180100; RP1 Retinitis pigmentosa-10; 180105; IMPDH1 Retinitis pigmentosa-11; 600138; PRPF31 Retinitis pigmentosa-12, autosomal recessive; 600105; CRB1 Retinitis pigmentosa-13; 600059; PRPF8 Retinitis pigmentosa-14; 600132; TULP1 Retinitis pigmentosa-17; 600852; CA4 Retinitis pigmentosa-18; 601414; HPRP3 Retinitis pigmentosa-19; 601718; ABCA4 Retinitis pigmentosa-2; 312600; RP2 Retinitis pigmentosa-25; 602772; EYS Retinitis pigmentosa-26; 608380; CERKL Retinitis pigmentosa-3; 300029; RPGR Retinitis pigmentosa-30; 607921; FSCN2 Retinitis pigmentosa-31; 609923; TOPORS Retinitis pigmentosa-35; 610282; SEMA4A Retinitis pigmentosa-36; 610599; PRCD Retinitis pigmentosa-37; 611131; NR2E3 Retinitis pigmentosa-38; 268000; MERTK Retinitis pigmentosa-39; 268000; USH2A Retinitis pigmentosa-41; 612095; PROM1 Retinitis pigmentosa-42; 612943; KLHL7 Retinitis pigmentosa-45; 268000; CNGB1 Retinitis pigmentosa-50; 613194; BEST1 Retinitis pigmentosa-7; 608133; PRPH2 Retinitis pigmentosa-9; 180104; RP9 Retinitis punctata albescens; 136880; PRPH2 Retinitis punctata albescens; 136880; RLBP1 Retinopathy of prematurity; 133780; FZD4 Rett syndrome; 312750; MECP2 Rett syndrome, congenital variant; 613454; FOXG1B Rett syndrome, preserved speech variant; 312750; MECP2 Revesz syndrome; 268130; TINF2 Reynolds syndrome; 613471; LBR Rhabdoid predisposition syndrome 1; 609322; SMARCB1 Rhabdoid tumor predisposition syndrome 2; 613325; SMARCA4 Rhabdomyosarcoma 2, alveolar; 268220; PAX3 Rhabdomyosarcoma 2, alveolar; 268220; PAX7 Rhabdomyosarcoma; 268210; SLC22A1L Rhabdomyosarcoma, alveolar; 268220; FOXO1A Rhizomelic chondrodysplasia punctata type 1; 215100; PEX7 Rhizomelic chondrodysplasia punctata type 3; 600121; AGPS Ribose-5-phosphate isomerase deficiency; 608611; RPIA Rickets due to defect in vitamin D 25-hydroxylation; 600081; CYP2R1 Rickets, vitamin D-resistant, type IIA; 277440; VDR RIDDLE syndrome; 611943; RNF168 Rieger or Axenfeld anomalies; 602482; FOXC1 Ring dermoid of cornea; 180550; PITX2 Rippling muscle disease; 606072; CAV3 Rippling muscle disease-1; 606072; RMD1 Roberts syndrome; 268300; ESCO2 Robinow syndrome, autosomal recessive; 268310; ROR2 Rolandic epilepsy, mental retardation, and speech dyspraxia; 300643; SRPX2 Rothmund–Thomson syndrome; 268400; RECQL4 Roussy–Lévy syndrome; 180800; MPZ Roussy–Lévy syndrome; 180800; PMP22 Rubenstein-Taybi syndrome; 180849; CREBBP Rubinstein–Taybi syndrome; 180849; EP300 Saccharopinuria; 268700; AASS Saethre–Chotzen syndrome with eyelid anomalies; 101400; TWIST1 Saethre–Chotzen syndrome; 101400; FGFR2 Saethre–Chotzen syndrome; 101400; TWIST1 Salla disease; 604369; SLC17A5 Sandhoff disease, infantile, juvenile, and adult forms; 268800; HEXB Sanfilippo syndrome, type A; 252900; SGSH Sanfilippo syndrome, type B; 252920; NAGLU Sanfilippo syndrome, type C; 252930; HGSNAT Sarcoidosis, early-onset; 609464; NOD2 SC phocomelia syndrome; 269000; ESCO2 Scapuloperoneal myopathy, X-linked dominant; 300695; FHL1 Scapuloperoneal spinal muscular atrophy; 181405; TRPV4 Scapuloperoneal syndrome, myopathic type; 181430; MYH7 Scapuloperoneal syndrome, neurogenic, Kaeser type; 181400; DES Schimke immunoosseous dysplasia; 242900; SMARCAL1 Schindler disease, type I; 609241; NAGA Schindler disease, type III; 609241; NAGA Schinzel–Giedion midface retraction syndrome; 269150; SETBP1 Schizencephaly; 269160; EMX2 Schizophrenia; 181500; DISC2 Schneckenbecken dysplasia; 269250; SLC35D1 Schöpf–Schulz–Passarge syndrome; 224750; WNT10A Schwannomatosis; 162091; NF2 Schwartz–Jampel syndrome, type 1; 255800; HSPG2 Sclerosteosis; 269500; SOST Sea-blue histiocyte disease; 269600; APOE Sebastian syndrome; 605249; MYH9 Seborrhea-like dermatitis with psoriasiform elements; 610227; ZNF750 Seckel syndrome 1; 210600; ATR SED congenita; 183900; COL2A1 Segawa syndrome, recessive; 605407; TH Self-healing collodion baby; 242300; TGM1 SEMD, Pakistani type; 612847; PAPSS2 Senior–Loken syndrome 4; 606996; NPHP4 Senior–Loken syndrome 5; 609254; IQCB1 Senior–Loken syndrome 6; 610189; CEP290 Senior–Loken syndrome-1; 266900; NPHP1 Sensorineural deafness with mild renal dysfunction; 602522; BSND Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; 607459; POLG Septo-optic dysplasia; 182230; HESX1 SERKAL syndrome; 611812; WNT4 Sertoli cell-only syndrome; 400042; ZNF148 SESAME syndrome; 612780; KCNJ10 Severe combined immunodeficiency due to ADA deficiency; 102700; ADA Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; 611291; NHEJ1 Severe combined immunodeficiency, Athabascan type; 602450; DCLRE1C Severe combined immunodeficiency, B cell-negative; 601457; RAG1 Severe combined immunodeficiency, B cell-negative; 601457; RAG2 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3D Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3E Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; PTPRC Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; 608971; IL7R Severe combined immunodeficiency, X-linked; 300400; IL2RG Short QT syndrome-1; 609620; KCNH2 Short QT syndrome-2; 609621; KCNQ1 Short QT syndrome-3; 609622; KCNJ2 Short rib-polydactyly syndrome, type III; 263510; DYNC2H1 Short stature; 604271; GHSR Short stature, idiopathic familial; 300582; SHOX Short stature, idiopathic familial; 300582; SHOXY Short stature, idiopathic; 604271; GHR Shprintzen–Goldberg syndrome; 182212; FBN1 Shwachman–Bodian–Diamond syndrome; 260400; SBDS Sialic acid storage disorder, infantile; 269920; SLC17A5 Sialidosis, type I; 256550; NEU1 Sialidosis, type II; 256550; NEU1 Sialuria; 269921; GNE Sick sinus syndrome 1; 608567; SCN5A Sick sinus syndrome 2; 163800; HCN4 Sickle cell anemia; 603903; HBB Silver spastic paraplegia syndrome; 270685; BSCL2 Silver–Russell syndrome; 180860; H19 Simpson-Golabi-Behmel syndrome, type 1; 312870; GPC3 Simpson-Golabi-Behmel syndrome, type 2; 300209; OFD1 Sitosterolemia; 210250; ABCG5 Sitosterolemia; 210250; ABCG8 Sjögren–Larsson syndrome; 270200; ALDH3A2 Skeletal defects, genital hypoplasia, and mental retardation; 612447; ZBTB16 Skin fragility-woolly hair syndrome; 607655; DSP Skin/hair/eye pigmentation 9, dark/light hair; 611742; ASIP Slowed nerve conduction velocity, AD; 608236; ARHGEF10 Small patella syndrome; 147891; TBX4 SMED, Strudwick type; 184250; COL2A1 Smith–Lemli–Opitz syndrome; 270400; DHCR7 Smith–Magenis syndrome; 182290; RAI1 Smith–McCort dysplasia; 607326; DYM Snowflake vitreoretinal degeneration; 193230; KCNJ13 Solitary median maxillary central incisor; 147250; SHH Somatostatin analog, resistance to; 102200; SSTR5 Sorsby fundus dystrophy; 136900; TIMP3 Sotos syndrome; 117550; NSD1 Spastic ataxia, Charlevoix-Saguenay type; 270550; SACS Spastic paralysis, infantile onset ascending; 607225; ALS2 Spastic paraplegia 10; 604187; KIF5A Spastic paraplegia 15; 270700; ZFYVE26 Spastic paraplegia 31; 610250; REEP1 Spastic paraplegia 33; 610244; ZFYVE27 Spastic paraplegia 39; 612020; PNPLA6 Spastic paraplegia, 44; 613206; GJC2 Spastic paraplegia-11; 604360; SPG11 Spastic paraplegia-13; 605280; HSPD1 Spastic paraplegia-2; 312920; PLP1 Spastic paraplegia-3A; 182600; SPG3A Spastic paraplegia-4; 182601; SPAST Spastic paraplegia-42; 612539; SLC33A1 Spastic paraplegia-5A; 270800; CYP7B1 Spastic paraplegia-6; 600363; NIPA1 Spastic paraplegia-7; 607259; PGN Spastic paraplegia-8; 603563; KIAA0196 Specific granule deficiency; 245480; CEBPE Speech-language disorder-1; 602081; FOXP2 Spherocytosis, hereditary, type 5; 612690; EPB42 Spherocytosis, type 1; 182900; ANK1 Spherocytosis, type 3; 270970; SPTA1 Spherocytosis, type 4; 612653; SLC4A1 Spinal and bulbar muscular atrophy of Kennedy; 313200; AR Spinal muscular atrophy, distal, autosomal recessive, 4; 611067; PLEKHG5 Spinal muscular atrophy, distal, X-linked 3; 300489; ATP7A Spinal muscular atrophy, late-onset, Finkel type; 182980; VAPB Spinal muscular atrophy, X-linked 2, infantile; 301830; UBE1 Spinal muscular atrophy-1; 253300; SMN1 Spinal muscular atrophy-2; 253550; SMN1 Spinal muscular atrophy-3; 253400; SMN1 Spinal muscular atrophy-4; 271150; SMN1 Spinocerebellar ataxia 12; 604326; PPP2R2B Spinocerebellar ataxia 14; 605361; PRKCG Spinocerebellar ataxia 15; 606658; ITPR1 Spinocerebellar ataxia 17; 607136; TBP Spinocerebellar ataxia 28; 610246; AFG3L2 Spinocerebellar ataxia 31; 117210; BEAN Spinocerebellar ataxia 8; 608768; ATXN8OS Spinocerebellar ataxia 8; 608768; ATXN8 Spinocerebellar ataxia with epilepsy; 607459; POLG Spinocerebellar ataxia, autosomal recessive 5; 606937; ZNF592 Spinocerebellar ataxia, autosomal recessive 8; 610743; SYNE1 Spinocerebellar ataxia, autosomal recessive 9; 612016; COQ8A Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; 607250; TDP1 Spinocerebellar ataxia, infantile-onset; 271245; TWNK Spinocerebellar ataxia-1; 164400; ATXN1 Spinocerebellar ataxia-10; 603516; ATXN10 Spinocerebellar ataxia-11; 604432; TTBK2 Spinocerebellar ataxia-13; 605259; KCNC3 Spinocerebellar ataxia-2; 183090; ATXN2 Spinocerebellar ataxia-27; 609307; FGF14 Spinocerebellar ataxia-5; 600224; SPTBN2 Spinocerebellar ataxia-6; 183086; CACNA1A Spinocerebellar ataxia-7; 164500; ATXN7 Split-hand/foot malformation 6; 225300; WNT10B Split-hand/foot malformation, type 4; 605289; TP63 Spondylocarpotarsal synostosis syndrome; 272460; FLNB Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; 612350; SLC39A13 Spondylocostal dysostosis, autosomal recessive 2; 608681; MESP2 Spondylocostal dysostosis, autosomal recessive 3; 609813; LFNG Spondylocostal dysostosis, autosomal recessive, 1; 277300; DLL3 Spondylocostal dystostosis 4, autosomal dominant; 122600; GDF6 Spondyloepimetaphyseal dysplasia; 608728; MATN3 Spondyloepimetaphyseal dysplasia, aggrecan type; 612813; ACAN Spondyloepimetaphyseal dysplasia, Missouri type; 602111; MMP13 Spondyloepiphyseal dysplasia tarda with progressive arthropathy; 208230; WISP3 Spondyloepiphyseal dysplasia tarda; 313400; TRAPPC2 Spondyloepiphyseal dysplasia with congenital joint dislocations; 143095; CHST3 Spondyloepiphyseal dysplasia, Kimberley type; 608361; ACAN Spondylo-megaepiphyseal-metaphyseal dysplasia; 613330; NKX3-2 Spondylometaepiphyseal dysplasia, short limb-hand type; 271665; DDR2 Spondylometaphyseal dysplasia, Kozlowski type; 184252; TRPV4 Spondyloperipheral dysplasia; 271700; COL2A1 Squamous cell carcinoma, head and neck; 275355; ING1 Squamous cell carcinoma, head and neck; 275355; TNFRSF10B Stapes ankylosis with broad thumb and toes; 184460; NOG STAR syndrome; 300707; FAM58A Stargardt disease 3; 600110; ELOVL4 Stargardt disease 4; 603786; PROM1 Stargardt disease-1; 248200; ABCA4 Startle disease/hyperekplexia, autosomal dominant; 149400; GLRA1 Steatocystoma multiplex; 184500; KRT17 Stickler syndrome, type I; 108300; COL2A1 Stickler syndrome, type II; 604841; COL11A1 Stickler syndrome, type III; 184840; COL11A2 Stiff skin syndrome; 184900; FBN1 Stocco dos Santos X-linked mental retardation syndrome; 300434; SHROOM4 Stomach cancer; 137215; KRAS Stomatocytosis I; 185000; EPB72 Striatal degeneration, autosomal dominant; 609161; PDE8B Striatonigral degeneration, infantile; 271930; NUP62 Stuve–Wiedemann syndrome/Schwartz–Jampel type 2 syndrome; 601559; LIFR Subcortical laminal heteropia, X-linked; 300067; DCX Succinic semialdehyde dehydrogenase deficiency; 271980; ALDH5A1 Succinyl-CoA:3-oxoacid CoA transferase deficiency; 245050; OXCT1 Sucrase-isomaltase deficiency, congenital; 222900; SI Sudden infant death with dysgenesis of the testes syndrome; 608800; TSPYL1 Sulfite oxidase deficiency; 272300; SUOX Supranuclear palsy, progressive atypical; 260540; MAPT Supranuclear palsy, progressive; 601104; MAPT Supravalvar aortic stenosis; 185500; ELN Surfactant metabolism dysfunction, pulmonary, 1; 265120; SFTPB Surfactant metabolism dysfunction, pulmonary, 2; 610913; SFTPC Surfactant metabolism dysfunction, pulmonary, 3; 610921; ABCA3 Sveinsson choreoretinal atrophy; 108985; TEAD1 Symphalangism, proximal; 185800; GDF5 Symphalangism, proximal; 185800; NOG Syndactyly, type III; 186100; GJA1 Syndactyly, type IV; 186200; LMBR1 Syndactyly, type V; 186300; HOXD13 Synostoses syndrome, multiple, 1; 186500; NOG Synpolydactyly with foot anomalies; 186000; HOXD13 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses; 608180; FBLN1 Synpolydactyly, type II; 186000; HOXD13 Tangier disease; 205400; ABCA1 TARP syndrome; 311900; RBM10 Tarsal-carpal coalition syndrome; 186570; NOG Tay–Sachs disease; 272800; HEXA T-cell immunodeficiency, congenital alopecia, and nail dystrophy; 601705; FOXN1 Testicular microlithiasis; 610441; SLC34A2 Testicular tumor, sporadic; 273300; STK11 Tetra-amelia, autosomal recessive; 273395; WNT3 Tetralogy of Fallot; 187500; GDF1 Tetralogy of Fallot; 187500; JAG1 Tetralogy of Fallot; 187500; ZFPM2 Tetrology of Fallot; 187500; NKX2E Thalassemia, alpha-; 604131; HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I; 187600; FGFR3 Thiamine-responsive megaloblastic anemia syndrome; 249270; SLC19A2 Three M syndrome 2; 612921; OBSL1 Thrombocythemia, essential; 187950; JAK2 Thrombocythemia, essential; 187950; MPL Thrombocythemia, essential; 187950; THPO Thrombocytopenia 4; 612004; CYCS Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1 Thrombocytopenia, congenital amegakaryocytic; 604498; MPL Thrombocytopenia, X-linked; 313900; WAS Thrombocytopenia, X-linked, intermittent; 313900; WAS Thrombocytopenia-2; 188000; FLJ14813 Thrombocytopenic purpura, autoimmune; 188030; FCGR2C Thrombophilia due to elevated HRG; 613116; HRG Thrombophilia due to heparin cofactor II deficiency; 612356; HCF2 Thrombophilia due to HRG deficiency; 613116; HRG Thrombophilia due to protein C deficiency, autosomal dominant; 176860; PROC Thrombophilia due to protein C deficiency, autosomal recessive; 612304; PROC Thrombophilia due to protein S deficiency; 612336; PROS1 Thrombophilia, familial, due to decreased release of PLAT; 612348; PLAT Thrombophilia, X-linked, due to factor IX defect; 300807; F9 Thrombosis, hyperhomocysteinemic; 236200; CBS Thrombotic thrombocytopenic purpura, familial; 274150; ADAMTS13 Thyroid dyshormonogenesis 6; 607200; DUOX2 Thyroid carcinoma, follicular; 188470; MINPP1 Thyroid carcinoma, follicular; 188470; NRAS Thyroid carcinoma, papillary; 188550; GOLGA5 Thyroid carcinoma, papillary; 188550; NCOA4 Thyroid carcinoma, papillary; 188550; PCM1 Thyroid carcinoma, papillary; 188550; PRKAR1A Thyroid carcinoma, papillary; 188550; TRIM24 Thyroid carcinoma, papillary; 188550; TRIM33 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 Thyroid hormone metabolism, abnormal; 609698; SECISBP2 Thyroid hormone resistance; 188570; THRB Thyroid hormone resistance, autosomal recessive; 274300; THRB Thyroid hormone resistance, selective pituitary; 145650; THRB Thyroid papillary carcinoma; 188550; CCDC6 Tibial muscular dystrophy, tardive; 600334; TTN Tietz albinism-deafness syndrome; 103500; MITF Timothy syndrome; 601005; CACNA1C Tn syndrome; 300622; C1GALT1C1 Toenail dystrophy, isolated; 607523; COL7A1 Tooth agenesis, selective, 1, with or without orofacial cleft; 106600; MSX1 Tooth agenesis, selective, 3; 604625; PAX9 Tooth agenesis, selective, 6; 613097; LTBP3 Tooth agenesis, selective, X-linked 1; 313500; ED1 Torg–Winchester syndrome; 259600; MMP2 Tourette syndrome; 137580; SLITRK1 Townes–Brocks branchiootorenal-like syndrome; 107480; SALL1 Townes–Brocks syndrome; 107480; SALL1 Transaldolase deficiency; 606003; TALDO1 Transcobalamin II deficiency; 275350; TCN2 Transient bullous of the newborn; 131705; COL7A1 Transposition of the great arteries, dextro-looped 1; 608808; MED13L Treacher Collins mandibulofacial dysostosis; 154500; TCOF1 Trehalase deficiency; 612119; TREH Trichodentoosseous syndrome; 190320; DLX3 Trichoepithelioma, multiple familial, 1; 601606; CYLD1 Trichorhinophalangeal syndrome, type I; 190350; TRPS1 Trichorhinophalangeal syndrome, type III; 190351; TRPS1 Trichothiodystrophy; 601675; ERCC2 Trichothiodystrophy; 601675; ERCC3 Trichothiodystrophy, complementation group A; 601675; GTF2H5 Trichothiodystrophy, nonphotosensitive 1; 234050; C7orf11 Trichotillomania; 613229; SLITRK1 Trifunctional protein deficiency; 609015; HADHA Trifunctional protein deficiency; 609015; HADHB Trigonocephaly; 190440; FGFR1 Trimethylaminuria; 602079; FMO3 Triphalangeal thumb, type I; 174500; LMBR1 Triphalangeal thumb-polysyndactyly syndrome; 174500; LMBR1 Trismus-pseudocamptodactyly syndrome; 158300; MYH8 Tropical calcific pancreatitis; 608189; SPINK1 Troyer syndrome; 275900; SPG20 Tuberous sclerosis-1; 191100; TSC1 Tuberous sclerosis-2; 191100; TSC2 Tumoral calcinosis, familial, normophosphatemic; 610455; SAMD9 Tumoral calcinosis, hyperphosphatemic; 211900; KL Tumoral calcinosis, hyperphosphatemic, familial; 211900; FGF23 Tumoral calcinosis, hyperphosphatemic, familial; 211900; GALNT3 Tyrosine kinase 2 deficiency; 611521; TYK2 Tyrosinemia type II; 277660; TAT Tyrosinemia type III; 276710; HPD Ullrich congenital muscular dystrophy; 254090; COL6A1 Ullrich congenital muscular dystrophy; 254090; COL6A2 Ullrich congenital muscular dystrophy; 254090; COL6A3 Ulna and fibula, absence of, with severe limb deficiency; 276820; WNT7A Ulnar–mammary syndrome; 181450; TBX3 Urocanase deficiency; 276880; UROC1 Urofacial syndrome; 236730; HPSE2 Usher syndrome, type 1B; 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 1D/F digenic; 601067; PCDH15 Usher syndrome, type 1F; 602083; PCDH15 Usher syndrome, type 1G; 606943; SANS Usher syndrome, type 2A; 276901; USH2A Usher syndrome, type 3; 276902; CLRN1 Usher syndrome, type IIC; 605472; GPR98 Usher syndrome, type IID; 611383; WHRN UV-sensitive syndrome; 600630; ERCC6 VACTERL association; 192350; HOXD13 Van Buchem disease; 239100; SOST van Buchem disease, type 2; 607636; LRP5 van der Woude syndrome; 119300; IRF6 Vasculopathy, retinal, with cerebral leukodystrophy; 192315; TREX1 VATER association with macrocephaly and ventriculomegaly; 276950; PTEN Velocardiofacial syndrome; 192430; TBX1 Venous malformations, multiple cutaneous and mucosal; 600195; TEK Ventricular fibrillation, familial, 1; 603829; SCN5A Ventricular fibrillation, paroxysmal familial, 2; 612956; DPP6 Ventricular tachycardia, catecholaminergic polymorphic, 1; 604772; RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 2; 611938; CASQ2 Ventricular tachycardia, idiopathic; 192605; GNAI2 Vertical talus, congenital; 192950; HOXD10 Vesicoureteral reflux 2; 610878; ROBO2 VEXAS; 301054; UBA1 Vitamin D-dependent rickets, type I; 264700; CYP27B1 Vitamin K-dependent clotting factors, combined deficiency of, 2; 607473; VKORC1 Vitamin K-dependent coagulation defect; 277450; GGCX Vitelliform macular dystrophy, adult-onset; 608161; BEST1 Vitreoretinochoroidopathy; 193220; BEST1 VLCAD deficiency; 201475; ACADVL Vohwinkel syndrome with ichthyosis; 604117; LOR Vohwinkel syndrome; 124500; GJB2 von Hippel–Lindau disease, modification of; 193300; CCND1 von Hippel–Lindau syndrome; 193300; VHL von Willebrand disease, autosomal dominant; 193400; VWF von Willebrand disease, autosomal recessive; 277480; VWF von Willebrand disease, platelet-type; 177820; GP1BA Waardenburg syndrome type 1; 193500; PAX3 Waardenburg syndrome type 2D; 608890; SNAI2 Waardenburg syndrome type 2E, with or without neurologic involvement; 611584; SOX10 Waardenburg syndrome type 3; 148820; PAX3 Waardenburg syndrome type 4A; 277580; EDNRB Waardenburg syndrome type 4B; 613265; EDN3 Waardenburg syndrome type 4C; 613266; SOX10 Waardenburg syndrome type IIA; 193510; MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner syndrome 1; 143200; VCAN Warburg micro syndrome 1; 600118; RAB3GAP1 Warfarin resistance; 122700; VKORC1 Warfarin sensitivity; 122700; CYP2C9 Warsaw breakage syndrome; 613398; DDX11 Watson syndrome; 193520; NF1 Weaver syndrome; 277590; NSD1 Weill–Marchesani syndrome, dominant; 608328; FBN1 Weill–Marchesani syndrome, recessive; 277600; ADAMTS10 Weill–Marchesani-like syndrome; 613195; ADAMTS17 Weissenbacher–Zweymüller syndrome; 277610; COL11A2 Werner syndrome; 277700; RECQL2 Weyers acrodental dysostosis; 193530; EVC WHIM syndrome; 193670; CXCR4 White sponge nevus; 193900; KRT13 White sponge nevus; 193900; KRT4 Wilms' tumor 2; 194071; H19 Wilms' tumor; 194070; BRCA2 Wilms' tumor, somatic; 194070; GPC3 Wilms' tumor, type 1; 194070; WT1 Wilson's disease; 277900; ATP7B Wiskott–Aldrich syndrome; 301000; WAS Witkop syndrome; 189500; MSX1 Wolcott–Rallison syndrome; 226980; EIF2AK3 Wolff–Parkinson–White syndrome; 194200; PRKAG2 Wolfram syndrome 2; 604928; CISD2 Wolfram syndrome; 222300; WFS1 Wolfram-like syndrome, autosomal dominant; 222300; WFS1 Wolman disease; 278000; LIPA Woodhouse–Sakati syndrome; 241080; C2orf37 Woolly hair, autosomal dominant; 194300; KRT74 Woolly hair, autosomal recessive 1; 278150; P2RY5 Woolly hair, autosomal recessive 2 with or without hypotrichosis; 604379; LIPH Wrinkly skin syndrome; 278250; ATP6V0A2 Xanthinuria, type I; 278300; XDH Xeroderma pigmentosum group A; 278700; XPA Xeroderma pigmentosum group B; 610651; ERCC3 Xeroderma pigmentosum group C; 278720; XPC Xeroderma pigmentosum group D; 278730; ERCC2 Xeroderma pigmentosum group E, DDB-negative subtype; 278740; DDB2 Xeroderma pigmentosum group F; 278760; ERCC4 Xeroderma pigmentosum group G; 278780; ERCC5 Xeroderma pigmentosum, variant type; 278750; POLH XFE progeroid syndrome; 610965; ERCC4 X-inactivation, familial skewed; 300087; XIC Zellweger syndrome; 214100; PEX10 Zellweger syndrome; 214100; PEX13 Zellweger syndrome; 214100; PEX14 Zellweger syndrome; 214100; PEX26 Zellweger syndrome; 214100; PEX5 Zellweger syndrome; 214100; PXF Zellweger syndrome, complementation group G; 214100; PEX3 Zellweger syndrome-1; 214100; PEX1

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Glaucoma

Glaucoma is a group of eye diseases that can lead to damage of the optic nerve, which transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of sight" because the loss of vision usually occurs slowly over a long period of time. A major risk factor for glaucoma is increased pressure within the eye, known as intraocular pressure (IOP). It is associated with old age, a family history of glaucoma, and certain medical conditions or the use of some medications. The word glaucoma comes from the Ancient Greek word γλαυκός (glaukós), meaning 'gleaming, blue-green, gray'. Of the different types of glaucoma, the most common are called open-angle glaucoma and closed-angle glaucoma. Inside the eye, a liquid called aqueous humor, which is produced by the ciliary body, helps to maintain shape and provides nutrients. The aqueous humor normally drains through the trabecular meshwork. In open-angle glaucoma, the drainage is impeded, causing the build up of aqueous to accumulate in the anterior chamber causing the pressure inside the eye to increase. This elevated pressure can reduce vascular perfusion in the vitreous chamber and can damage the optic nerve and peripheral glial tissues. In closed-angle glaucoma, the drainage of the eye becomes suddenly blocked, leading to a rapid increase in intraocular pressure. This may lead to intense eye pain, blurred vision, and nausea. Closed-angle glaucoma is an emergency requiring immediate attention. If treated early, the progression of glaucoma may be slowed or even stopped. Regular eye examinations, especially if the person is over 40 or has a family history of glaucoma, are essential for early detection. Treatment typically includes prescription of eye drops, medication, laser treatment or surgery. The goal of these treatments is to decrease eye pressure. Glaucoma is a leading cause of blindness in African Americans, Hispanic Americans, and Asians. Its incidence rises with age, to more than eight percent of Americans over the age of eighty, and closed-angle glaucoma is more common in women.

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TOPIC OF THE DAY

Greenwood / Black Wall Street

Before the 1921 destruction of Tulsa’s Greenwood District, Black residents had created a remarkable center of business and community life. The district included stores, professional offices, entertainment venues and homes owned by Black citizens. Understanding Greenwood means learning what was built—not only what was burned.

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TRIVIA QUESTION OF THE DAY

Which Black woman became the first elected to the United States Congress?

Shirley Chisholm, elected in 1968.