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; Template:OMIM2; CYP17A1
- 17-alpha-hydroxylase/17,20-lyase deficiency; Template:OMIM2; CYP17A1
- 17-beta-hydroxysteroid dehydrogenase X deficiency; Template:OMIM2; HSD17B10
- 2-methylbutyrylglycinuria; Template:OMIM2; ACADSB
- 3-hydroxyacyl-coa dehydrogenase deficiency; Template:OMIM2; HADHSC
- 3-hydroxyisobutryl-CoA hydrolase deficiency; Template:OMIM2; HIBCH
- 3-M syndrome; Template:OMIM2; CUL7
- 3-Methylcrotonyl-CoA carboxylase 1 deficiency; Template:OMIM2; MCCC1
- 3-Methylcrotonyl-CoA carboxylase 2 deficiency; Template:OMIM2; MCCC2
- 3-Methylglutaconic aciduria type I; Template:OMIM2; AUH
- 3-Methylglutaconic aciduria type III; Template:OMIM2; OPA3
- 3-Methylglutaconic aciduria type V; Template:OMIM2; DNAJC19
- 46XX true hermaphroditism; Template:OMIM2; SRY
- 46XY complete gonadal dysgenesis; Template:OMIM2; DHH
- 46XY complete gonadal dysgenesis; Template:OMIM2; SRY
- 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; Template:OMIM2; NR5A1
- 46XY gonadal dysgenesis, complete, CBS2-related; Template:OMIM2; CBX2
- 46XY partial gonadal dysgenesis, with minifascicular neuropathy; Template:OMIM2; DHH
- 5-fluorouracil toxicity; Template:OMIM2; DPYD
- 6-mercaptopurine sensitivity; Template:OMIM2; TPMT
- Aarskog–Scott syndrome; Template:OMIM2; FGD1
- ABCD syndrome; Template:OMIM2; EDNRB
- Abetalipoproteinemia; Template:OMIM2; MTP
- ACAD9 deficiency; Template:OMIM2; ACAD9
- Acampomelic campomelic dysplasia; Template:OMIM2; SOX9
- Achalasia-Addisonianism-Alacrimia syndrome; Template:OMIM2; AAAS
- Acheiropody; Template:OMIM2; LMBR1
- Achondrogenesis Ib; Template:OMIM2; SLC26A2
- Achondrogenesis type 1A; Template:OMIM2; TRIP11
- Achondrogenesis-hypochondrogenesis type 2; Template:OMIM2; COL2A1
- Achondroplasia; Template:OMIM2; FGFR3
- Achromatopsia-2; Template:OMIM2; CNGA3
- Achromatopsia-3; Template:OMIM2; CNGB3
- Acrocallosal syndrome; Template:OMIM2; GLI3
- Acrocapitofemoral dysplasia; Template:OMIM2; IHH
- Acrodermatitis enteropathica; Template:OMIM2; SLC39A4
- Acrokeratosis verruciformis; Template:OMIM2; ATP2A2
- Acromesomelic dysplasia, Hunter-Thompson type; Template:OMIM2; GDF5
- Acromesomelic dysplasia, Maroteaux type; Template:OMIM2; NPR2
- Action myoclonus-renal failure syndrome; Template:OMIM2; SCARB2
- Acyl-CoA dehydrogenase, long chain, deficiency of; Template:OMIM2; ACADL
- Acyl-CoA dehydrogenase, medium chain, deficiency of; Template:OMIM2; ACADM
- Acyl-CoA dehydrogenase, short chain, deficiency of; Template:OMIM2; ACADS
- Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; Template:OMIM2; EGFR
- Adenocarcinoma of lung, somatic; Template:OMIM2; BRAF
- Adenocarcinoma of lung, somatic; Template:OMIM2; ERBB2
- Adenocarcinoma of lung, somatic; Template:OMIM2; PRKN
- Adenocarcinoma, ovarian, somatic; Template:OMIM2; PRKN
- Adenomas, multiple colorectal; Template:OMIM2; MUTYH
- Adenomas, salivary gland pleomorphic; Template:OMIM2; PLAG1
- Adenomatous polyposis coli; Template:OMIM2; APC
- Adenosine deaminase deficiency, partial; Template:OMIM2; ADA
- Adenosine triphosphate, elevated, of erythrocytes; Template:OMIM2; PKLR
- Adenylosuccinase deficiency; Template:OMIM2; ADSL
- Adiponectin deficiency; Template:OMIM2; ADIPOQ
- Adrenal cortical carcinoma; Template:OMIM2; TP53
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Template:OMIM2; CYP11B1
- Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; Template:OMIM2; POR
- Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; Template:OMIM2; DAX1
- Adrenocorticotropic hormone deficiency; Template:OMIM2; TBS19
- Adrenoleukodystrophy; Template:OMIM2; ABCD1
- Adrenoleukodystrophy, neonatal; Template:OMIM2; PEX1
- Adrenoleukodystrophy, neonatal; Template:OMIM2; PEX10
- Adrenoleukodystrophy, neonatal; Template:OMIM2; PEX13
- Adrenoleukodystrophy, neonatal; Template:OMIM2; PEX26
- Adrenoleukodystrophy, neonatal; Template:OMIM2; PEX5
- Adrenomyeloneuropathy; Template:OMIM2; ABCD1
- Adult i phenotype with congenital cataract; Template:OMIM2; GCNT2
- Adult i phenotype without cataract; Template:OMIM2; GCNT2
- ADULT syndrome; Template:OMIM2; TP63
- Advanced sleep phase syndrome, familial; Template:OMIM2; PER2
- Afibrinogenemia, congenital; Template:OMIM2; FGA
- Afibrinogenemia, congenital; Template:OMIM2; FGB
- Agammaglobulinemia 1; Template:OMIM2; IGHM
- Agammaglobulinemia 2; Template:OMIM2; IGLL1
- Agammaglobulinemia 4; Template:OMIM2; BLNK
- Agammaglobulinemia 5; Template:OMIM2; LRRC8A
- Agammaglobulinemia and isolated hormone deficiency; Template:OMIM2; BTK
- Agammaglobulinemia, type 1, X-linked; Template:OMIM2; BTK
- AGAT deficiency; Template:OMIM2; GATM
- Agenesis of the corpus callosum with peripheral neuropathy; Template:OMIM2; SLC12A6
- Aicardi–Goutières syndrome 1, dominant and recessive; Template:OMIM2; TREX1
- Aicardi–Goutières syndrome 2; Template:OMIM2; RNASEH2B
- Aicardi–Goutières syndrome 3; Template:OMIM2; RNASEH2C
- Aicardi–Goutières syndrome 4; Template:OMIM2; RNASEH2A
- Aicardi–Goutières syndrome 5; Template:OMIM2; SAMHD1
- AICA-ribosiduria due to ATIC deficiency; Template:OMIM2; ATIC
- Alagille syndrome 2; Template:OMIM2; NOTCH2
- Alagille syndrome; Template:OMIM2; JAG1
- Aland Island eye disease; Template:OMIM2; CACNA1F
- Albinism, brown oculocutaneous; Template:OMIM2; OCA2
- Albinism, brown; Template:OMIM2; TYRP1
- Albinism, oculocutaneous, type IA; Template:OMIM2; TYR
- Albinism, oculocutaneous, type IB; Template:OMIM2; TYR
- Albinism, oculocutaneous, type II; Template:OMIM2; OCA2
- Albinism, rufous; Template:OMIM2; TYRP1
- Alcohol sensitivity, acute; Template:OMIM2; ALDH2
- Aldosteronism, glucocorticoid-remediable; Template:OMIM2; CYP11B1
- Alexander disease; Template:OMIM2; GFAP
- Alexander disease; Template:OMIM2; NDUFV1
- Alkaptonuria; Template:OMIM2; HGD
- Allan–Herndon–Dudley syndrome; Template:OMIM2; SLC16A2
- Alopecia universalis; Template:OMIM2; HR
- Alopecia, neurologic defects, and endocrinopathy syndrome; Template:OMIM2; RBM28
- Alpers syndrome; Template:OMIM2; POLG
- Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Template:OMIM2; RAG1
- Alpha-2-plasmin inhibitor deficiency; Template:OMIM2; PLI
- Alpha-ketoglutarate dehydrogenase deficiency; Template:OMIM2; OGDH
- Alpha-methylacetoacetic aciduria; Template:OMIM2; ACAT1
- Alpha-thalassemia myelodysplasia syndrome, somatic; Template:OMIM2; ATRX
- Alpha-thalassemia mental retardation syndrome; Template:OMIM2; ATRX
- Alport syndrome; Template:OMIM2; COL4A5
- Alport syndrome, autosomal recessive; Template:OMIM2; COL4A3
- Alport syndrome, autosomal recessive; Template:OMIM2; COL4A4
- Alström syndrome; Template:OMIM2; ALMS1
- Alternating hemiplegia of childhood; Template:OMIM2; ATP1A2
- Alveolar capillary dysplasia with misalignment of pulmonary veins; Template:OMIM2; FOXF1
- Alveolar soft part sarcoma; Template:OMIM2; ASPSCR1
- Alzheimer disease 1, familial; Template:OMIM2; APP
- Alzheimer disease 6; Template:OMIM2; AD6
- Alzheimer disease 8; Template:OMIM2; AD8
- Alzheimer disease, late-onset, susceptibility to; Template:OMIM2; NOS3
- Alzheimer disease, type 3; Template:OMIM2; PSEN1
- Alzheimer disease, type 3, with spastic paraparesis and apraxia; Template:OMIM2; PSEN1
- Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Template:OMIM2; PSEN1
- Alzheimer disease-10; Template:OMIM2; AD10
- Alzheimer disease-2; Template:OMIM2; APOE
- Alzheimer disease-4; Template:OMIM2; PSEN2
- Alzheimer disease-5; Template:OMIM2; AD5
- Amelogenesis imperfecta, hypomaturation type, IIA3; Template:OMIM2; WDR72
- Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; Template:OMIM2; DLX3
- Amelogenesis imperfecta, hypoplastic/hypomaturation type; Template:OMIM2; AMELX
- Amelogenesis imperfecta, type 3; Template:OMIM2; FAM83H
- Amelogenesis imperfecta, type IB; Template:OMIM2; ENAM
- Amelogenesis imperfecta, type IC; Template:OMIM2; ENAM
- Amelogenesis imperfecta, type IIA1; Template:OMIM2; KLK4
- Amelogenesis imperfecta, type IIA2; Template:OMIM2; MMP20
- Aminoacylase 1 deficiency; Template:OMIM2; ACY1
- Amish infantile epilepsy syndrome; Template:OMIM2; SIAT9
- Amyloidosis, 3 or more types; Template:OMIM2; APOA1
- Amyloidosis, Finnish type; Template:OMIM2; GSN
- Amyloidosis, hereditary renal; Template:OMIM2; FGA
- Amyloidosis, hereditary, transthyretin-related; Template:OMIM2; TTR
- Amyloidosis, primary localized cutaneous; Template:OMIM2; OSMR
- Amyloidosis, renal; Template:OMIM2; LYZ
- Amyotrophic lateral sclerosis 10, with or without FTD; Template:OMIM2; TARDBP
- Amyotrophic lateral sclerosis 11; Template:OMIM2; FIG4
- Amyotrophic lateral sclerosis 4, juvenile; Template:OMIM2; SETX
- Amyotrophic lateral sclerosis 6, autosomal recessive; Template:OMIM2; FUS
- Amyotrophic lateral sclerosis 8; Template:OMIM2; VAPB
- Amyotrophic lateral sclerosis 9; Template:OMIM2; ANG
- Amyotrophic lateral sclerosis, due to SOD1 deficiency; Template:OMIM2; SOD1
- Amyotrophic lateral sclerosis, juvenile; Template:OMIM2; ALS2
- Amyotrophy, hereditary neuralgic; Template:OMIM2; 40430
- Amytrophic lateral sclerosis 12; Template:OMIM2; OPTN
- Anauxetic dysplasia; Template:OMIM2; RMRP
- Androgen insensitivity syndrome; Template:OMIM2; AR
- Androgen insensitivity, partial, with or without breast cancer; Template:OMIM2; AR
- Anemia, congenital dyserythropoietic, type I; Template:OMIM2; CDAN1
- Anemia, dyserythropoietic congenital, type II; Template:OMIM2; SEC23B
- Anemia, hemolytic, due to UMPH1 deficiency; Template:OMIM2; NT5C3
- Anemia, hemolytic, Rh-null, regulator type; Template:OMIM2; RHAG
- Anemia, hypochromic microcytic; Template:OMIM2; NRAMP2
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Template:OMIM2; GLRX5
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Template:OMIM2; SLC25A38
- Anemia, sideroblastic, with ataxia; Template:OMIM2; ABCB7
- Anemia, sideroblastic, X-linked; Template:OMIM2; ALAS2
- Angelman syndrome; Template:OMIM2; MECP2
- Angelman syndrome; Template:OMIM2; UBE3A
- Angelman syndrome-like; Template:OMIM2; CDKL5
- Angioedema, hereditary, type III; Template:OMIM2; F12
- Angioedema, hereditary, types I and II; Template:OMIM2; C1NH
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Template:OMIM2; COL4A1
- Aniridia; Template:OMIM2; PAX6
- Anonychia congenita; Template:OMIM2; RSPO4
- Anterior segment mesenchymal dysgenesis; Template:OMIM2; FOXE3
- Anterior segment mesenchymal dysgenesis; Template:OMIM2; PITX3
- Antithrombin III deficiency; Template:OMIM2; AT3
- Antley–Bixler syndrome; Template:OMIM2; FGFR2
- Antley–Bixler syndrome-like with disordered steroidogenesis; Template:OMIM2; POR
- Anxiety-related personality traits; Template:OMIM2; SLC6A4
- Aortic aneurysm, familial thoracic 4; Template:OMIM2; MYH11
- Aortic aneurysm, familial thoracic 6; Template:OMIM2; ACTA2
- Aortic valve disease; Template:OMIM2; NOTCH1
- Apert syndrome; Template:OMIM2; FGFR2
- Aphakia, congenital primary; Template:OMIM2; FOXE3
- Aplasia of lacrimal and salivary glands; Template:OMIM2; FGF10
- Aplastic anemia; Template:OMIM2; TERC
- Argininemia; Template:OMIM2; ARG1
- Argininosuccinic aciduria; Template:OMIM2; ASL
- Aromatase deficiency; Template:OMIM2; CYP19A1
- Aromatase excess syndrome; Template:OMIM2; CYP19A1
- Aromatic L-amino acid decarboxylase deficiency; Template:OMIM2; DDC
- Arrhythmogenic right ventricular dysplasia 1; Template:OMIM2; TGFB3
- Arrhythmogenic right ventricular dysplasia 2; Template:OMIM2; RYR2
- Arrhythmogenic right ventricular dysplasia 5; Template:OMIM2; LAMR1
- Arrhythmogenic right ventricular dysplasia 8; Template:OMIM2; DSP
- Arrhythmogenic right ventricular dysplasia, familial, 10; Template:OMIM2; DSG2
- Arrhythmogenic right ventricular dysplasia, familial, 11; Template:OMIM2; DSC2
- Arrhythmogenic right ventricular dysplasia, familial, 12; Template:OMIM2; JUP
- Arrhythmogenic right ventricular dysplasia, familial, 5; Template:OMIM2; TMEM43
- Arrhythmogenic right ventricular dysplasia, familial, 9; Template:OMIM2; PKP2
- Arterial calcification, generalized, of infancy; Template:OMIM2; ENPP1
- Arterial tortuosity syndrome; Template:OMIM2; SLC2A10
- Arthrogryposis multiplex congenita, distal type 1; Template:OMIM2; TPM2
- Arthrogryposis multiplex congenita, distal type 2B; Template:OMIM2; TNNI2
- Arthrogryposis, distal, type 2A; Template:OMIM2; MYH3
- Arthrogryposis, distal, type 2B; Template:OMIM2; MYH3
- Arthrogryposis, distal, type 2B; Template:OMIM2; TPM2
- Arthrogryposis, lethal, with anterior horn cell disease; Template:OMIM2; GLE1
- Arthrogryposis, renal dysfunction, and cholestasis 1; Template:OMIM2; VPS33B
- Arthrogryposis, renal dysfunction, and cholestasis 2; Template:OMIM2; VIPAR
- Arthropathy, progressive pseudorheumatoid, of childhood; Template:OMIM2; WISP3
- Arthyrgryposis, distal, type 2B; Template:OMIM2; TNNT3
- Arts syndrome; Template:OMIM2; PRPS1
- Aspartylglucosaminuria; Template:OMIM2; AGA
- Asphyxiating thoracic dystrophy 2; Template:OMIM2; IFT80
- Asphyxiating thoracic dystrophy 3; Template:OMIM2; DYNC2H1
- Asthma and nasal polyps; Template:OMIM2; TBX21
- Ataxia with isolated vitamin E deficiency; Template:OMIM2; TTPA
- Ataxia, cerebellar, Cayman type; Template:OMIM2; ATCAY
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Template:OMIM2; APTX
- Ataxia–ocular apraxia-2; Template:OMIM2; SETX
- Ataxia–telangiectasia; Template:OMIM2; ATM
- Ataxia–telangiectasia-like disorder; Template:OMIM2; MRE11A
- Atelosteogenesis II; Template:OMIM2; SLC26A2
- Atelosteogenesis, type III; Template:OMIM2; FLNB
- Atelostogenesis, type I; Template:OMIM2; FLNB
- Athabaskan brainstem dysgenesis syndrome; Template:OMIM2; HOXA1
- Atopy; Template:OMIM2; SPINK5
- ATP synthase deficiency, nuclear-encoded; Template:OMIM2; ATPAF2
- Atransferrinemia; Template:OMIM2; TF
- Atrial fibrillation; Template:OMIM2; GJA5
- Atrial fibrillation, familial, 3; Template:OMIM2; KCNQ1
- Atrial fibrillation, familial, 4; Template:OMIM2; KCNE2
- Atrial fibrillation, familial, 6; Template:OMIM2; NPPA
- Atrial fibrillation, familial, 7; Template:OMIM2; KCNA5
- Atrial septal defect 4; Template:OMIM2; TBX20
- Atrial septal defect 5; Template:OMIM2; ACTC1
- Atrial septal defect 6; Template:OMIM2; TLL1
- Atrial septal defect with atrioventricular conduction defects; Template:OMIM2; NKX2E
- Atrial septal defect-2; Template:OMIM2; GATA4
- Atrichia with papular lesions; Template:OMIM2; HR
- Atrioventricular canal defect; Template:OMIM2; AVSD1
- Atrioventricular septal defect; Template:OMIM2; GJA1
- Atrioventricular septal defect, partial, with heterotaxy syndrome; Template:OMIM2; CRELD1
- Auditory neuropathy, autosomal recessive, 1; Template:OMIM2; OTOF
- Autoimmune disease, syndromic multisystem; Template:OMIM2; ITCH
- Autoimmune lymphoproliferative syndrome, type IA; Template:OMIM2; TNFRSF6
- Autoimmune lymphoproliferative syndrome, type II; Template:OMIM2; CASP10
- Autoimmune lymphoproliferative syndrome, type IIB; Template:OMIM2; CASP8
- Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; Template:OMIM2; AIRE
- Axenfeld–Rieger syndrome, type 1; Template:OMIM2; PITX2
- Axenfeld–Rieger syndrome, type 3; Template:OMIM2; FOXC1
- Azoospermia due to perturbations of meiosis; Template:OMIM2; SYCP3
- Azoospermia; Template:OMIM2; USP9Y
- Baller–Gerold syndrome; Template:OMIM2; RECQL4
- Bamforth–Lazarus syndrome; Template:OMIM2; FOXE1
- Bannayan–Riley–Ruvalcaba syndrome; Template:OMIM2; PTEN
- Bardet–Biedl syndrome 1; Template:OMIM2; BBS1
- Bardet–Biedl syndrome 10; Template:OMIM2; BBS10
- Bardet–Biedl syndrome 11; Template:OMIM2; TRIM32
- Bardet–Biedl syndrome 12; Template:OMIM2; BBS12
- Bardet–Biedl syndrome 13; Template:OMIM2; MKS1
- Bardet–Biedl syndrome 14; Template:OMIM2; CEP290
- Bardet–Biedl syndrome 15; Template:OMIM2; C2orf86
- Bardet–Biedl syndrome 2; Template:OMIM2; BBS2
- Bardet–Biedl syndrome 3; Template:OMIM2; ARL6
- Bardet–Biedl syndrome 4; Template:OMIM2; BBS4
- Bardet–Biedl syndrome 5; Template:OMIM2; BBS5
- Bardet–Biedl syndrome 6; Template:OMIM2; MKKS
- Bardet–Biedl syndrome 7; Template:OMIM2; BBS7
- Bardet–Biedl syndrome 8; Template:OMIM2; TTC8
- Bardet–Biedl syndrome 9; Template:OMIM2; PTHB1
- Bare lymphocyte syndrome, type I; Template:OMIM2; TAP1
- Bare lymphocyte syndrome, type I; Template:OMIM2; TAPBP
- Bare lymphocyte syndrome, type I, due to TAP2 deficiency; Template:OMIM2; TAP2
- Bare lymphocyte syndrome, type II, complementation group A; Template:OMIM2; MHC2TA
- Bare lymphocyte syndrome, type II, complementation group C; Template:OMIM2; RFX5
- Bare lymphocyte syndrome, type II, complementation group D; Template:OMIM2; RFXAP
- Bare lymphocyte syndrome, type II, complementation group E; Template:OMIM2; RFX5
- Barth syndrome; Template:OMIM2; TAZ
- Bart-Pumphrey syndrome; Template:OMIM2; GJB2
- Bartter syndrome, type 1; Template:OMIM2; SLC12A1
- Bartter syndrome, type 2; Template:OMIM2; KCNJ1
- Bartter syndrome, type 3; Template:OMIM2; CLCNKB
- Bartter syndrome, type 4, digenic; Template:OMIM2; CLCNKB
- Bartter syndrome, type 4a; Template:OMIM2; BSND
- Bartter syndrome, type 4b, digenic; Template:OMIM2; CLCNKA
- Basal cell carcinoma, somatic; Template:OMIM2; PTCH1
- Basal cell carcinoma, somatic; Template:OMIM2; PTCH2
- Basal cell carcinoma, somatic; Template:OMIM2; RASA1
- Basal cell nevus syndrome; Template:OMIM2; PTCH1
- Basal ganglia disease, biotin-responsive; Template:OMIM2; SLC19A3
- Basal laminar drusen; Template:OMIM2; HF1
- BCG and salmonella infection, disseminated; Template:OMIM2; IL12B
- BCG infection, generalized familial; Template:OMIM2; IFNGR1
- Beare–Stevenson cutis gyrata syndrome; Template:OMIM2; FGFR2
- Becker muscular dystrophy; Template:OMIM2; DMD
- Beckwith–Wiedemann syndrome; Template:OMIM2; CDKN1C
- Beckwith–Wiedemann syndrome; Template:OMIM2; H19
- Beckwith–Wiedemann syndrome; Template:OMIM2; KCNQ10T1
- Beckwith–Wiedemann syndrome; Template:OMIM2; NSD1
- Bernard–Soulier syndrome, benign autosomal dominant; Template:OMIM2; GP1BA
- Bernard–Soulier syndrome, type A; Template:OMIM2; GP1BA
- Bernard–Soulier syndrome, type B; Template:OMIM2; GP1BB
- Bernard–Soulier syndrome, type C; Template:OMIM2; GP9
- Best macular dystrophy; Template:OMIM2; BEST1
- Bestrophinopathy; Template:OMIM2; BEST1
- Beta-ureidopropionase deficiency; Template:OMIM2; UPB1
- Bethlem myopathy; Template:OMIM2; COL6A1
- Bethlem myopathy; Template:OMIM2; COL6A2
- Bethlem myopathy; Template:OMIM2; COL6A3
- Bietti crystalline corneoretinal dystrophy; Template:OMIM2; CYP4V2
- Bifid nose with or without anorectal and renal anomalies; Template:OMIM2; FREM1
- Bile acid malabsorption, primary; Template:OMIM2; SLC10A2
- Bile acid synthesis defect, congenital, 2; Template:OMIM2; AKR1D1
- Bile acid synthesis defect, congenital, 4; Template:OMIM2; AMACR
- Biotinidase deficiency; Template:OMIM2; BTD
- Birk–Barel mental retardation dysmorphism syndrome; Template:OMIM2; KCNK9
- Birt–Hogg–Dubé syndrome; Template:OMIM2; FLCN
- Björnstad syndrome; Template:OMIM2; BCS1L
- Bladder cancer; Template:OMIM2; KRAS
- Bladder cancer; Template:OMIM2; RB1
- Bladder cancer, somatic; Template:OMIM2; FGFR3
- Blau syndrome; Template:OMIM2; NOD2
- Bleeding disorder due to P2RY12 defect; Template:OMIM2; P2RY12
- Blepharophimosis, epicanthus inversus, and ptosis, type 1; Template:OMIM2; FOXL2
- Blepharophimosis, epicanthus inversus, and ptosis, type 2; Template:OMIM2; FOXL2
- Blood group--Lutheran inhibitor; Template:OMIM2; KLF1
- Bloom syndrome; Template:OMIM2; RECQL3
- Blue cone monochromacy; Template:OMIM2; OPN1MW
- Blue cone monochromacy; Template:OMIM2; OPN1LW
- Boomerang dysplasia; Template:OMIM2; FLNB
- Börjeson–Forssman–Lehmann syndrome; Template:OMIM2; PHF6
- Bosley–Salih–Alorainy syndrome; Template:OMIM2; HOXA1
- Bothnia retinal dystrophy; Template:OMIM2; RLBP1
- Bowen–Conradi syndrome; Template:OMIM2; EMG1
- Brachiootic syndrome 3; Template:OMIM2; SIX1
- Brachydactyly type A1; Template:OMIM2; BDA1B
- Brachydactyly type A1; Template:OMIM2; IHH
- Brachydactyly type A2; Template:OMIM2; BMPR1B
- Brachydactyly type A2; Template:OMIM2; GDF5
- Brachydactyly type B1; Template:OMIM2; ROR2
- Brachydactyly type B2; Template:OMIM2; NOG
- Brachydactyly type C; Template:OMIM2; GDF5
- Brachydactyly type D; Template:OMIM2; HOXD13
- Brachydactyly type E; Template:OMIM2; HOXD13
- Brachydactyly type E2; Template:OMIM2; PTHLH
- Brachydactyly-syndactyly syndrome; Template:OMIM2; HOXD13
- Brachyolmia type 3; Template:OMIM2; TRPV4
- Bradyopsia; Template:OMIM2; RGS9
- Bradyopsia; Template:OMIM2; RGS9BP
- Brain small vessel disease with Axenfeld-Rieger anomaly; Template:OMIM2; COL4A1
- Brain small vessel disease with hemorrhage; Template:OMIM2; COL4A1
- Branchiooculofacial syndrome; Template:OMIM2; TFAP2A
- Branchiootorenal syndrome 2; Template:OMIM2; SIX5
- Branchiootorenal syndrome with cataract; Template:OMIM2; EYA1
- Branchiootorenal syndrome; Template:OMIM2; EYA1
- Breast cancer; Template:OMIM2; PPM1D
- Breast cancer; Template:OMIM2; SLC22A1L
- Breast cancer; Template:OMIM2; TP53
- Breast cancer, early-onset; Template:OMIM2; BRIP1
- Breast cancer, invasive ductal; Template:OMIM2; RAD54L
- Breast cancer, somatic; Template:OMIM2; AKT1
- Breast cancer, somatic; Template:OMIM2; KRAS
- Breast cancer, somatic; Template:OMIM2; PIK3CA
- Breast cancer, somatic; Template:OMIM2; RB1CC1
- Brittle cornea syndrome; Template:OMIM2; ZNF469
- Brody myopathy; Template:OMIM2; ATP2A1
- Bronchiectasis with or without elevated sweat chloride 1; Template:OMIM2; SCNN1B
- Bronchiectasis with or without elevated sweat chloride 2; Template:OMIM2; SCNN1A
- Bronchiectasis with or without elevated sweat chloride 3; Template:OMIM2; SCNN1G
- Brooke–Spiegler syndrome; Template:OMIM2; CYLD1
- Brown–Vialetto–Van Laere syndrome; Template:OMIM2; C20orf54
- Bruck syndrome 2; Template:OMIM2; PLOD2
- Brugada syndrome 1; Template:OMIM2; SCN5A
- Brugada syndrome 2; Template:OMIM2; GPD1L
- Brugada syndrome 3; Template:OMIM2; CACNA1C
- Brugada syndrome 4; Template:OMIM2; CACNB2
- Brugada syndrome 5; Template:OMIM2; SCN1B
- Brugada syndrome 6; Template:OMIM2; KCNE3
- Brugada syndrome 7; Template:OMIM2; SCN3B
- Brugada syndrome 8; Template:OMIM2; HCN4
- Brunner syndrome; Template:OMIM2; MAOA
- Burkitt's lymphoma; Template:OMIM2; MYC
- Buschke–Ollendorff syndrome; Template:OMIM2; LEMD3
- C syndrome; Template:OMIM2; CD96
- C5 deficiency; Template:OMIM2; C5
- C6 deficiency; Template:OMIM2; C6
- C7 deficiency; Template:OMIM2; C7
- Caffey disease; Template:OMIM2; COL1A1
- Campomelic dysplasia with autosomal sex reversal; Template:OMIM2; SOX9
- Campomelic dysplasia; Template:OMIM2; SOX9
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; Template:OMIM2; PRG4
- Camurati–Engelmann disease; Template:OMIM2; TGFB1
- Canavan disease; Template:OMIM2; ASPA
- Candidiasis, familial chronic mucocutaneous, autosomal dominant; Template:OMIM2; CLEC7A
- Candidiasis, familial chronic mucocutaneous, autosomal recessive; Template:OMIM2; CARD9
- Capillary malformation-arteriovenous malformation; Template:OMIM2; RASA1
- Carbamoyl phosphate synthetase I deficiency; Template:OMIM2; CPS1
- Carbohydrate-deficient glycoprotein syndrome, type Ib; Template:OMIM2; MPI
- Carboxypeptidase N deficiency; Template:OMIM2; CPN1
- Carcinoid tumors, intestinal; Template:OMIM2; SDHD
- Cardiac arrhythmia, ankyrin-B-related; Template:OMIM2; ANK2
- Cardiac conduction defect, nonspecific; Template:OMIM2; SCN1B
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; Template:OMIM2; SCO2
- Cardiofaciocutaneous syndrome; Template:OMIM2; BRAF
- Cardiofaciocutaneous syndrome; Template:OMIM2; KRAS
- Cardiofaciocutaneous syndrome; Template:OMIM2; MAP2K1
- Cardiofaciocutaneous syndrome; Template:OMIM2; MAP2K2
- Cardiomyopathy, dilated 1C; Template:OMIM2; LDB3
- Cardiomyopathy, dilated; Template:OMIM2; MYBPC3
- Cardiomyopathy, dilated, 1A; Template:OMIM2; LMNA
- Cardiomyopathy, dilated, 1AA; Template:OMIM2; ACTN2
- Cardiomyopathy, dilated, 1BB; Template:OMIM2; DSG2
- Cardiomyopathy, dilated, 1CC; Template:OMIM2; NEXN
- Cardiomyopathy, dilated, 1D; Template:OMIM2; TNNT2
- Cardiomyopathy, dilated, 1DD; Template:OMIM2; RBM20
- Cardiomyopathy, dilated, 1E; Template:OMIM2; SCN5A
- Cardiomyopathy, dilated, 1EE; Template:OMIM2; MYH6
- Cardiomyopathy, dilated, 1FF; Template:OMIM2; TNNI3
- Cardiomyopathy, dilated, 1G; Template:OMIM2; TTN
- Cardiomyopathy, dilated, 1GG; Template:OMIM2; SDHA
- Cardiomyopathy, dilated, 1I; Template:OMIM2; DES
- Cardiomyopathy, dilated, 1J; Template:OMIM2; EYA4
- Cardiomyopathy, dilated, 1L; Template:OMIM2; SGCD
- Cardiomyopathy, dilated, 1M; Template:OMIM2; CSRP3
- Cardiomyopathy, dilated, 1N; Template:OMIM2; TCAP
- Cardiomyopathy, dilated, 1O; Template:OMIM2; ABCC9
- Cardiomyopathy, dilated, 1P; Template:OMIM2; PLN
- Cardiomyopathy, dilated, 1R; Template:OMIM2; ACTC1
- Cardiomyopathy, dilated, 1S; Template:OMIM2; MYH7
- Cardiomyopathy, dilated, 1W; Template:OMIM2; VCL
- Cardiomyopathy, dilated, 1X; Template:OMIM2; FKTN
- Cardiomyopathy, dilated, 1Y; Template:OMIM2; TPM1
- Cardiomyopathy, dilated, 1Z; Template:OMIM2; TNNC1
- Cardiomyopathy, dilated, 2A; Template:OMIM2; TNNI3
- Cardiomyopathy, dilated, 3A; Template:OMIM2; TAZ
- Cardiomyopathy, dilated, 3B; Template:OMIM2; DMD
- Cardiomyopathy, familial hypertrophic, 1; Template:OMIM2; MYH7
- Cardiomyopathy, familial hypertrophic, 10; Template:OMIM2; MYL2
- Cardiomyopathy, familial hypertrophic, 11; Template:OMIM2; ACTC1
- Cardiomyopathy, familial hypertrophic, 12; Template:OMIM2; CSRP3
- Cardiomyopathy, familial hypertrophic, 13; Template:OMIM2; TNNC1
- Cardiomyopathy, familial hypertrophic, 14; Template:OMIM2; MYH6
- Cardiomyopathy, familial hypertrophic, 15; Template:OMIM2; VCL
- Cardiomyopathy, familial hypertrophic; Template:OMIM2; CAV3
- Cardiomyopathy, familial hypertrophic; Template:OMIM2; SLC25A4
- Cardiomyopathy, familial hypertrophic, 2; Template:OMIM2; TNNT2
- Cardiomyopathy, familial hypertrophic, 3; Template:OMIM2; TPM1
- Cardiomyopathy, familial hypertrophic, 4; Template:OMIM2; MYBPC3
- Cardiomyopathy, familial hypertrophic, 8; Template:OMIM2; MYL3
- Cardiomyopathy, familial restrictive; Template:OMIM2; TNNI3
- Cardiomyopathy, familial restrictive, 3; Template:OMIM2; TNNT2
- Cardiomyopathy, hypertrophic 6, with WPW; Template:OMIM2; PRKAG2
- Cardiomyopathy, hypertrophic, midventricular, digenic; Template:OMIM2; MYLK2
- Carney complex variant; Template:OMIM2; MYH8
- Carney complex, type 1; Template:OMIM2; PRKAR1A
- Carnitine deficiency, systemic primary; Template:OMIM2; SLC22A5
- Carotid intimal medial thickness 1; Template:OMIM2; PPARG
- Carpal tunnel syndrome, familial; Template:OMIM2; TTR
- Carpenter syndrome; Template:OMIM2; RAB23
- Cartilage-hair hypoplasia; Template:OMIM2; RMRP
- Cataract with late-onset corneal dystrophy; Template:OMIM2; PAX6
- Cataract, autosomal dominant, multiple types 1; Template:OMIM2; BFSP2
- Cataract, cerulean, type 2; Template:OMIM2; CRYBB2
- Cataract, congenital nuclear, 2; Template:OMIM2; CRYBB3
- Cataract, congenital nuclear, autosomal recessive 3; Template:OMIM2; CRYBB1
- Cataract, congenital zonular, with sutural opacities; Template:OMIM2; CRYBA1
- Cataract, congenital; Template:OMIM2; BFSP2
- Cataract, congenital, cerulean type, 3; Template:OMIM2; CRYGD
- Cataract, congenital, X-linked; Template:OMIM2; NHS
- Cataract, Coppock-like; Template:OMIM2; CRYBB2
- Cataract, Coppock-like; Template:OMIM2; CRYGC
- Cataract, cortical, juvenile-onset; Template:OMIM2; BFSP1
- Cataract, crystalline aculeiform; Template:OMIM2; CRYGD
- Cataract, juvenile, with microcornea and glucosuria; Template:OMIM2; SLC16A12
- Cataract, juvenile-onset; Template:OMIM2; BFSP2
- Cataract, lamellar 2; Template:OMIM2; CRYBA4
- Cataract, lamellar; Template:OMIM2; HSF4
- Cataract, Marner type; Template:OMIM2; HSF4
- Cataract, nonnuclear polymorphic congenital; Template:OMIM2; CRYGD
- Cataract, polymorphic and lamellar; Template:OMIM2; MIP
- Cataract, posterior polar, 1; Template:OMIM2; EPHA2
- Cataract, posterior polar, 3; Template:OMIM2; CHMP4B
- Cataract, posterior polar, 4; Template:OMIM2; PITX3
- Cataract, posterior polar, 4, syndromic; Template:OMIM2; PITX3
- Cataract, sutural, with punctate and cerulean opacities; Template:OMIM2; CRYBB2
- Cataract, zonular pulverulent-1; Template:OMIM2; GJA8
- Cataract, zonular pulverulent-3; Template:OMIM2; GJA3
- Cataract-microcornea syndrome; Template:OMIM2; GJA8
- CATSHL syndrome; Template:OMIM2; FGFR3
- Caudal duplication anomaly; Template:OMIM2; AXIN1
- Caudal regression syndrome; Template:OMIM2; VANGL1
- Cavernous malformations of CNS and retina; Template:OMIM2; CCM1
- CD59 deficiency; Template:OMIM2; CD59
- CD8 deficiency, familial; Template:OMIM2; CD8A
- Cenani–Lenz syndactyly syndrome; Template:OMIM2; LRP4
- Central core disease; Template:OMIM2; RYR1
- Central hypoventilation syndrome; Template:OMIM2; GDNF
- Central hypoventilation syndrome, congenital; Template:OMIM2; ASCL1
- Central hypoventilation syndrome, congenital; Template:OMIM2; BDNF
- Central hypoventilation syndrome, congenital; Template:OMIM2; EDN3
- Central hypoventilation syndrome, congenital; Template:OMIM2; PMX2B
- Central hypoventilation syndrome, congenital; Template:OMIM2; RET
- Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Template:OMIM2; CA8
- Cerebellar ataxia; Template:OMIM2; CP
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; Template:OMIM2; VLDLR
- Cerebral amyloid angiopathy; Template:OMIM2; CST3
- Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; Template:OMIM2; APP
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; Template:OMIM2; NOTCH3
- Cerebral cavernous malformations 3; Template:OMIM2; PDCD10
- Cerebral cavernous malformations-1; Template:OMIM2; CCM1
- Cerebral cavernous malformations-2; Template:OMIM2; C7orf22
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; Template:OMIM2; SNAP29
- Cerebral palsy, spastic quadriplegic, 3; Template:OMIM2; AP4M1
- Cerebral palsy, spastic quadriplegic; Template:OMIM2; KANK1
- Cerebral palsy, spastic, symmetric, autosomal recessive; Template:OMIM2; GAD1
- Cerebrocostomandibular-like syndrome; Template:OMIM2; COG1
- Cerebrooculofacioskeletal syndrome 1; Template:OMIM2; ERCC6
- Cerebrooculofacioskeletal syndrome 2; Template:OMIM2; ERCC2
- Cerebrooculofacioskeletal syndrome 4; Template:OMIM2; ERCC1
- Cerebrotendinous xanthomatosis; Template:OMIM2; CYP27A1
- Ceroid lipofuscinosis, neuronal 8; Template:OMIM2; CLN8
- Ceroid lipofuscinosis, neuronal, 10; Template:OMIM2; CTSD
- Ceroid lipofuscinosis, neuronal, 7; Template:OMIM2; MFSD8
- Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; Template:OMIM2; CLN8
- Ceroid lipofuscinosis, neuronal 1, infantile; Template:OMIM2; PPT1
- Ceroid-lipofuscinosis, neuronal 2, classic late infantile; Template:OMIM2; TPP1
- Ceroid lipofuscinosis, neuronal 3, juvenile; Template:OMIM2; CLN3
- Ceroid-lipofuscinosis, neuronal-5, variant late infantile; Template:OMIM2; CLN5
- Ceroid-lipofuscinosis, neuronal-6, variant late infantile; Template:OMIM2; CLN6
- Cervical cancer, somatic; Template:OMIM2; FGFR3
- Chanarin–Dorfman syndrome; Template:OMIM2; ABHD5
- Char syndrome; Template:OMIM2; TFAP2B
- Charcot–Marie–Tooth disease, axonal, type 2F; Template:OMIM2; HSPB1
- Charcot–Marie–Tooth disease, axonal, type 2K; Template:OMIM2; GDAP1
- Charcot–Marie–Tooth disease, axonal, type 2L; Template:OMIM2; HSPB8
- Charcot–Marie–Tooth disease, axonal, type 2M; Template:OMIM2; DNM2
- Charcot–Marie–Tooth disease, axonal, type 2N; Template:OMIM2; AARS
- Charcot–Marie–Tooth disease, axonal, with vocal cord paresis; Template:OMIM2; GDAP1
- Charcot–Marie–Tooth disease, dominant intermediate 3; Template:OMIM2; MPZ
- Charcot–Marie–Tooth disease, dominant intermediate B; Template:OMIM2; DNM2
- Charcot–Marie–Tooth disease, dominant intermediate C; Template:OMIM2; YARS
- Charcot–Marie–Tooth disease, recessive intermediate, A; Template:OMIM2; GDAP1
- Charcot–Marie–Tooth disease, recessive intermediate, B; Template:OMIM2; KARS
- Charcot–Marie–Tooth disease type 1A; Template:OMIM2; PMP22
- Charcot–Marie–Tooth disease type 1B; Template:OMIM2; MPZ
- Charcot–Marie–Tooth disease type 1C; Template:OMIM2; LITAF
- Charcot–Marie–Tooth disease type 1D; Template:OMIM2; EGR2
- Charcot–Marie–Tooth disease type 1E; Template:OMIM2; PMP22
- Charcot–Marie–Tooth disease type 1F; Template:OMIM2; NEFL
- Charcot–Marie–Tooth disease type 2A1; Template:OMIM2; KIF1B
- Charcot–Marie–Tooth disease type 2A2; Template:OMIM2; MFN2
- Charcot–Marie–Tooth disease type 2B; Template:OMIM2; RAB7
- Charcot–Marie–Tooth disease type 2B1; Template:OMIM2; LMNA
- Charcot–Marie–Tooth disease type 2B2; Template:OMIM2; MED25
- Charcot–Marie–Tooth disease type 2D; Template:OMIM2; GARS
- Charcot–Marie–Tooth disease type 2E; Template:OMIM2; NEFL
- Charcot–Marie–Tooth disease type 2I; Template:OMIM2; MPZ
- Charcot–Marie–Tooth disease type 2J; Template:OMIM2; MPZ
- Charcot–Marie–Tooth disease type 4A; Template:OMIM2; GDAP1
- Charcot–Marie–Tooth disease type 4B1; Template:OMIM2; MTMR2
- Charcot–Marie–Tooth disease type 4B2; Template:OMIM2; SBF2
- Charcot–Marie–Tooth disease type 4C; Template:OMIM2; SH3TC2
- Charcot–Marie–Tooth disease type 4D; Template:OMIM2; NDRG1
- Charcot–Marie–Tooth disease type 4F; Template:OMIM2; PRX
- Charcot–Marie–Tooth disease type 4H; Template:OMIM2; FGD4
- Charcot–Marie–Tooth disease type 4J; Template:OMIM2; FIG4
- Charcot–Marie–Tooth disease, X-linked recessive, 5; Template:OMIM2; PRPS1
- Charcot–Marie–Tooth neuropathy, X-linked dominant, 1; Template:OMIM2; GJB1
- CHARGE syndrome; Template:OMIM2; CHD7
- CHARGE syndrome; Template:OMIM2; SEMA3E
- Chédiak–Higashi syndrome; Template:OMIM2; CHS1
- Cherubism; Template:OMIM2; SH3BP2
- Chilblain lupus; Template:OMIM2; TREX1
- CHILD syndrome; Template:OMIM2; NSDHL
- Chloride diarrhea, congenital, Finnish type; Template:OMIM2; SLC26A3
- Cholestasis, benign recurrent intrahepatic, 2; Template:OMIM2; ABCB11
- Cholestasis, benign recurrent intrahepatic; Template:OMIM2; ATP8B1
- Cholestasis, familial intrahepatic, of pregnancy; Template:OMIM2; ABCB4
- Cholestasis, progressive familial intrahepatic 1; Template:OMIM2; ATP8B1
- Cholestasis, progressive familial intrahepatic 2; Template:OMIM2; ABCB11
- Cholestasis, progressive familial intrahepatic 3; Template:OMIM2; ABCB4
- Cholestasis, progressive familial intrahepatic 4; Template:OMIM2; HSD3B7
- Cholesteryl ester storage disease; Template:OMIM2; LIPA
- Chondrocalcinosis 2; Template:OMIM2; ANKH
- Chondrodysplasia punctata, rhizomelic, type 2; Template:OMIM2; GNPAT
- Chondrodysplasia punctata, X-linked dominant; Template:OMIM2; EBP
- Chondrodysplasia punctata, X-linked recessive; Template:OMIM2; ARSE
- Chondrodysplasia, Blomstrand type; Template:OMIM2; PTHR1
- Chondrodysplasia, Grebe type; Template:OMIM2; GDF5
- Chondrosarcoma; Template:OMIM2; EXT1
- Chondrosarcoma, extraskeletal myxoid; Template:OMIM2; TAF15
- Chondrosarcoma, extraskeletal myxoid; Template:OMIM2; TFG
- Chondrosarcoma, extraskeletal myxoid; Template:OMIM2; CSMF
- Chorea, hereditary benign; Template:OMIM2; NKX2-1
- Choreoacanthocytosis; Template:OMIM2; VPS13A
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Template:OMIM2; NKX2-1
- Choriodal dystrophy, central areolar 2,; Template:OMIM2; PRPH2
- Choroid plexus papilloma; Template:OMIM2; TP53
- Choroideremia; Template:OMIM2; CHM
- Chromosome 22q13.3 deletion syndrome; Template:OMIM2; SHANK3
- Chromosome 5q14.3 deletion syndrome; Template:OMIM2; MEF2C
- Chrondrodysplasia, acromesomelic, with genital anomalies; Template:OMIM2; BMPR1B
- Chronic granulomatous disease due to deficiency of NCF-1; Template:OMIM2; NCF1
- Chronic granulomatous disease due to deficiency of NCF-2; Template:OMIM2; NCF2
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA; Template:OMIM2; CYBA
- Chronic granulomatous disease, X-linked; Template:OMIM2; CYBB
- Chylomicron retention disease; Template:OMIM2; SAR1B
- Ciliary dyskinesia, primary, 1, with or without situs inversus; Template:OMIM2; DNAI1
- Ciliary dyskinesia, primary, 10; Template:OMIM2; KTU
- Ciliary dyskinesia, primary, 11; Template:OMIM2; RSPH4A
- Ciliary dyskinesia, primary, 12; Template:OMIM2; RSPH9
- Ciliary dyskinesia, primary, 13; Template:OMIM2; LRRC50
- Ciliary dyskinesia, primary, 3, with or without situs inversus; Template:OMIM2; DNAH5
- Ciliary dyskinesia, primary, 6; Template:OMIM2; TXNDC3
- Ciliary dyskinesia, primary, 7, with or without situs inversus; Template:OMIM2; DNAH11
- Ciliary dyskinesia, primary, 9, with or without situs inversus; Template:OMIM2; DNAI2
- CINCA syndrome; Template:OMIM2; NLRP3
- Cirrhosis, North American Indian childhood type; Template:OMIM2; CIRH1A
- Citrullinemia; Template:OMIM2; ASS1
- Citrullinemia, adult-onset type II; Template:OMIM2; SLC25A13
- Citrullinemia, type II, neonatal-onset; Template:OMIM2; SLC25A13
- Cleft lip/palate-ectodermal dysplasia syndrome; Template:OMIM2; HVEC
- Cleft palate and mental retardation; Template:OMIM2; SATB2
- Cleft palate with ankyloglossia; Template:OMIM2; TBX22
- Cleft palate, isolated; Template:OMIM2; UBB
- Cleidocranial dysplasia; Template:OMIM2; RUNX2
- C-like syndrome; Template:OMIM2; CD96
- Clopidogrel, impaired responsiveness to; Template:OMIM2; CYP2C
- Clubfoot, congenital; Template:OMIM2; PITX1
- COACH syndrome; Template:OMIM2; CC2D2A
- COACH syndrome; Template:OMIM2; RPGRIP1L
- COACH syndrome; Template:OMIM2; TMEM67
- Cockayne syndrome type A; Template:OMIM2; ERCC8
- Cockayne syndrome type B; Template:OMIM2; ERCC6
- Cocoon syndrome; Template:OMIM2; CHUK
- Coenzyme Q10 deficiency; Template:OMIM2; APTX
- Coenzyme Q10 deficiency; Template:OMIM2; CABC1
- Coenzyme Q10 deficiency; Template:OMIM2; COQ2
- Coenzyme Q10 deficiency; Template:OMIM2; COQ9
- Coenzyme Q10 deficiency; Template:OMIM2; PDSS1
- Coenzyme Q10 deficiency; Template:OMIM2; PDSS2
- Coffin–Lowry syndrome; Template:OMIM2; RPS6KA3
- Cohen syndrome; Template:OMIM2; COH1
- Cold-induced autoinflammatory syndrome, familial; Template:OMIM2; NLRP3
- Cold-induced sweating syndrome 1; Template:OMIM2; CLCF1
- Cold-induced sweating syndrome; Template:OMIM2; CRLF1
- Coloboma of optic nerve; Template:OMIM2; PAX6
- Coloboma, ocular; Template:OMIM2; PAX6
- Coloboma, ocular; Template:OMIM2; SHH
- Colon cancer, somatic; Template:OMIM2; PTPRJ
- Colorblindness, deutan; Template:OMIM2; OPN1MW
- Colorblindness, tritan; Template:OMIM2; OPN1SW
- Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; Template:OMIM2; MUTYH
- Colorectal cancer; Template:OMIM2; AXIN2
- Colorectal cancer; Template:OMIM2; BUB1B
- Colorectal cancer; Template:OMIM2; EP300
- Colorectal cancer; Template:OMIM2; NRAS
- Colorectal cancer; Template:OMIM2; PDGFRL
- Colorectal cancer; Template:OMIM2; TP53
- Colorectal cancer, hereditary nonpolyposis, type 1; Template:OMIM2; MSH2
- Colorectal cancer, hereditary nonpolyposis, type 2; Template:OMIM2; MLH1
- Colorectal cancer, hereditary nonpolyposis, type I; Template:OMIM2; EPCAM
- Colorectal cancer, somatic; Template:OMIM2; FGFR3
- Colorectal cancer, somatic; Template:OMIM2; AKT1
- Colorectal cancer, somatic; Template:OMIM2; APC
- Colorectal cancer, somatic; Template:OMIM2; FLCN
- Colorectal cancer, somatic; Template:OMIM2; MLH3
- Colorectal cancer, somatic; Template:OMIM2; PIK3CA
- Combined cellular and humoral immune defects with granulomas; Template:OMIM2; RAG1
- Combined cellular and humoral immune defects with granulomas; Template:OMIM2; RAG2
- Combined factor V and VIII deficiency; Template:OMIM2; LMAN1
- Combined hyperlipidemia, familial; Template:OMIM2; LPL
- Combined immunodeficiency, X-linked, moderate; Template:OMIM2; IL2RG
- Combined oxidative phosphorylation deficiency 1; Template:OMIM2; GFM1
- Combined oxidative phosphorylation deficiency 2; Template:OMIM2; MRPS16
- Combined oxidative phosphorylation deficiency 3; Template:OMIM2; TSFM
- Combined oxidative phosphorylation deficiency 4; Template:OMIM2; TUFM
- Combined oxidative phosphorylation deficiency 5; Template:OMIM2; MRPS22
- Combined oxidative phosphorylation deficiency 6; Template:OMIM2; AIFM1
- Combined SAP deficiency; Template:OMIM2; PSAP
- Complement component 4, partial deficiency of; Template:OMIM2; C1NH
- Complement factor H deficiency; Template:OMIM2; HF1
- Complement factor I deficiency; Template:OMIM2; CFI
- Complex I, mitochondrial respiratory chain, deficiency of; Template:OMIM2; NDUFS6
- Cone dystrophy 4; Template:OMIM2; PDE6C
- Cone dystrophy-3; Template:OMIM2; GUCA1A
- Cone–rod dystrophy 10; Template:OMIM2; SEMA4A
- Cone–rod dystrophy 11; Template:OMIM2; RAXL1
- Cone–rod dystrophy 12; Template:OMIM2; PROM1
- Cone–rod dystrophy 13; Template:OMIM2; RPGRIP1
- Cone–rod dystrophy 14; Template:OMIM2; GUCA1A
- Cone–rod dystrophy 15; Template:OMIM2; CDHR1
- Cone–rod dystrophy 3; Template:OMIM2; ABCA4
- Cone–rod dystrophy 5; Template:OMIM2; PITPNM3
- Cone–rod dystrophy; Template:OMIM2; GUCY2D
- Cone–rod dystrophy 7; Template:OMIM2; RIMS1
- Cone–rod dystrophy 9; Template:OMIM2; ADAM9
- Cone–rod dystrophy, X-linked, 3; Template:OMIM2; CACNA1F
- Cone–rod dystrophy-1; Template:OMIM2; RPGR
- Cone–rod retinal dystrophy-2; Template:OMIM2; CRX
- Congenital bilateral absence of vas deferens; Template:OMIM2; CFTR
- Congenital cataracts, facial dysmorphism, and neuropathy; Template:OMIM2; CTDP1
- Congenital disorder of glycosylation, type Ia; Template:OMIM2; PMM2
- Congenital disorder of glycosylation, type Ic; Template:OMIM2; ALG6
- Congenital disorder of glycosylation, type Id; Template:OMIM2; ALG3
- Congenital disorder of glycosylation, type Ie; Template:OMIM2; DPM1
- Congenital disorder of glycosylation, type If; Template:OMIM2; MPDU1
- Congenital disorder of glycosylation, type Ig; Template:OMIM2; ALG12
- Congenital disorder of glycosylation, type Ih; Template:OMIM2; ALG8
- Congenital disorder of glycosylation, type Ii; Template:OMIM2; ALG2
- Congenital disorder of glycosylation, type IIA; Template:OMIM2; MGAT2
- Congenital disorder of glycosylation, type IIb; Template:OMIM2; GCS1
- Congenital disorder of glycosylation type IIc; Template:OMIM2; SLC35C1
- Congenital disorder of glycosylation, type IId; Template:OMIM2; B4GALT1
- Congenital disorder of glycosylation, type IIe; Template:OMIM2; COG7
- Congenital disorder of glycosylation, type IIf; Template:OMIM2; SLC35A1
- Congenital disorder of glycosylation, type IIg; Template:OMIM2; COG1
- Congenital disorder of glycosylation, type IIh; Template:OMIM2; COG8
- Congenital disorder of glycosylation, type IIj; Template:OMIM2; COG4
- Congenital disorder of glycosylation, type Ij; Template:OMIM2; DPAGT2
- Congenital disorder of glycosylation, type Ik; Template:OMIM2; ALG1
- Congenital disorder of glycosylation, type Il; Template:OMIM2; ALG9
- Congenital disorder of glycosylation, type Im; Template:OMIM2; TMEM15
- Congenital disorder of glycosylation, type In; Template:OMIM2; RFT1
- Congenital disorder of glycosylation, type Io; Template:OMIM2; DPM3
- Congenital disorder of glycosylation, type Ip; Template:OMIM2; SRD5A3
- Congenital heart defects, nonsyndromic, 1, X-linked; Template:OMIM2; ZIC3
- Congenital heart disease, nonsyndromic, 2; Template:OMIM2; TAB2
- Conjunctivitis, ligneous; Template:OMIM2; PLG
- Conotruncal anomaly face syndrome; Template:OMIM2; TBX1
- Contractural arachnodactyly, congenital; Template:OMIM2; FBN2
- Convulsions, benign familial infantile, 3; Template:OMIM2; SCN2A1
- Convulsions, familial febrile, 4; Template:OMIM2; GPR98
- COPD, rate of decline of lung function in; Template:OMIM2; MMP1
- Coproporphyria; Template:OMIM2; CPOX
- Cornea plana congenita, recessive; Template:OMIM2; KERA
- Corneal dystrophy polymorphous posterior, 2; Template:OMIM2; COL8A2
- Corneal dystrophy, Avellino type; Template:OMIM2; TGFBI
- Corneal dystrophy, congenital stromal; Template:OMIM2; DCN
- Corneal dystrophy, crystalline, of Schnyder; Template:OMIM2; UBIAD1
- Corneal dystrophy, epithelial basement membrane; Template:OMIM2; TGFBI
- Corneal dystrophy, Fuchs endothelial, 1; Template:OMIM2; COL8A2
- Corneal dystrophy, Fuchs endothelial, 4; Template:OMIM2; SLC4A11
- Corneal dystrophy, Fuchs endothelial, 6; Template:OMIM2; ZEB1
- Corneal dystrophy, gelatinous drop-like; Template:OMIM2; TACSTD2
- Corneal dystrophy, Groenouw type I; Template:OMIM2; TGFBI
- Corneal dystrophy, hereditary polymorphous posterior; Template:OMIM2; VSX1
- Corneal dystrophy, lattice type I; Template:OMIM2; TGFBI
- Corneal dystrophy, lattice type IIIA; Template:OMIM2; TGFBI
- Corneal dystrophy, posterior polymorphous, 3; Template:OMIM2; ZEB1
- Corneal dystrophy, Reis-Bucklers type; Template:OMIM2; TGFBI
- Corneal dystrophy, Thiel-Behnke type; Template:OMIM2; TGFBI
- Corneal endothelial dystrophy 2; Template:OMIM2; SLC4A11
- Corneal endothelial dystrophy and perceptive deafness; Template:OMIM2; SLC4A11
- Corneal fleck dystrophy; Template:OMIM2; PIKFYVE
- Cornelia de Lange syndrome 1; Template:OMIM2; NIPBL
- Cornelia de Lange syndrome 2; Template:OMIM2; DXS423E
- Cornelia de Lange syndrome 3; Template:OMIM2; CSPG6
- Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; Template:OMIM2; IGBP1
- Corpus callosum, partial agenesis of; Template:OMIM2; L1CAM
- Cortical dysplasia-focal epilepsy syndrome; Template:OMIM2; CNTNAP2
- Corticosteroid-binding globulin deficiency; Template:OMIM2; CBG
- Cortisone reductase deficiency; Template:OMIM2; H6PD
- Cortisone reductase deficiency; Template:OMIM2; HSD11B1
- Costello syndrome; Template:OMIM2; HRAS
- Coumarin resistance; Template:OMIM2; CYP2A6
- Cousin syndrome; Template:OMIM2; TBX15
- Cowden syndrome; Template:OMIM2; PTEN
- Cowden-like syndrome; Template:OMIM2; SDHB
- Cowden-like syndrome; Template:OMIM2; SDHD
- CPT deficiency, hepatic, type IA; Template:OMIM2; CPT1A
- CPT deficiency, hepatic, type II; Template:OMIM2; CPT2
- CPT II deficiency, lethal neonatal; Template:OMIM2; CPT2
- Cranioectodermal dysplasia; Template:OMIM2; IFT122
- Craniofacial-deafness-hand syndrome; Template:OMIM2; PAX3
- Craniofrontonasal dysplasia; Template:OMIM2; EFNB1
- Cranio-lenticulo-sutural dysplasia; Template:OMIM2; SEC23A
- Craniometaphyseal dysplasia; Template:OMIM2; ANKH
- Cranioosteoarthropathy; Template:OMIM2; HPGD
- Craniosynostosis, type 1; Template:OMIM2; TWIST1
- Craniosynostosis, type 2; Template:OMIM2; MSX2
- CRASH syndrome; Template:OMIM2; L1CAM
- Creatine deficiency syndrome, X-linked; Template:OMIM2; SLC6A8
- Creatine phosphokinase, elevated serum; Template:OMIM2; CAV3
- Creutzfeldt–Jakob disease; Template:OMIM2; PRNP
- Crigler–Najjar syndrome type I; Template:OMIM2; UGT1A1
- Crigler–Najjar syndrome type II; Template:OMIM2; UGT1A1
- Crisponi syndrome; Template:OMIM2; CRLF1
- Crouzon syndrome with acanthosis nigricans; Template:OMIM2; FGFR3
- Crouzon syndrome; Template:OMIM2; FGFR2
- Cryptorchidism, bilateral; Template:OMIM2; LGR8
- Cryptorchidism, idiopathic; Template:OMIM2; INSL3
- Currarino syndrome; Template:OMIM2; MNX1
- Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Template:OMIM2; LTBP4
- Cutis laxa, AD; Template:OMIM2; ELN
- Cutis laxa, autosomal dominant; Template:OMIM2; FBLN5
- Cutis laxa, autosomal recessive; Template:OMIM2; FBLN5
- Cutis laxa, autosomal recessive, type I; Template:OMIM2; EFEMP2
- Cutis laxa, autosomal recessive, type II; Template:OMIM2; ATP6V0A2
- Cutis laxa, autosomal recessive, type IIB; Template:OMIM2; PYCR1
- Cutis laxa, recessive, type I; Template:OMIM2; LOX
- Cylindromatosis, familial; Template:OMIM2; CYLD1
- Cystathioninuria; Template:OMIM2; CTH
- Cystic fibrosis; Template:OMIM2; CFTR
- Cystinosis, late-onset juvenile or adolescent nephropathic; Template:OMIM2; CTNS
- Cystinosis, nephropathic; Template:OMIM2; CTNS
- Cystinosis, ocular nonnephropathic; Template:OMIM2; CTNS
- Cystinuria; Template:OMIM2; SLC3A1
- Cystinuria; Template:OMIM2; SLC7A9
- Cytochrome C oxidase deficiency; Template:OMIM2; COX6B1
- D-2-hydroxyglutaric aciduria; Template:OMIM2; D2HGDH
- Dandy–Walker malformation; Template:OMIM2; ZIC1
- Dandy–Walker malformation; Template:OMIM2; ZIC4
- Darier disease; Template:OMIM2; ATP2A2
- Darsun syndrome; Template:OMIM2; G6PC3
- D-bifunctional protein deficiency; Template:OMIM2; HSD17B4
- De la Chapelle dysplasia; Template:OMIM2; SLC26A2
- De Sanctis–Cacchione syndrome; Template:OMIM2; ERCC6
- Deafness, autosomal dominant 1; Template:OMIM2; DIAPH1
- Deafness, autosomal dominant 10; Template:OMIM2; EYA4
- Deafness, autosomal dominant 11, neurosensory; Template:OMIM2; MYO7A
- Deafness, autosomal dominant 13; Template:OMIM2; COL11A2
- Deafness, autosomal dominant 15; Template:OMIM2; POU4F3
- Deafness, autosomal dominant 17; Template:OMIM2; MYH9
- Deafness, autosomal dominant 20/26; Template:OMIM2; ACTG1
- Deafness, autosomal dominant 22; Template:OMIM2; MYO6
- Deafness, autosomal dominant 23; Template:OMIM2; SIX1
- Deafness, autosomal dominant 25; Template:OMIM2; SLC17A8
- Deafness, autosomal dominant 28; Template:OMIM2; GRHL2
- Deafness, autosomal dominant 2A; Template:OMIM2; KCNQ4
- Deafness, autosomal dominant 2B; Template:OMIM2; GJB3
- Deafness, autosomal dominant 36; Template:OMIM2; TMC1
- Deafness, autosomal dominant 36, with dentinogenesis; Template:OMIM2; DSPP
- Deafness, autosomal dominant 3A; Template:OMIM2; GJB2
- Deafness, autosomal dominant 3B; Template:OMIM2; GJB6
- Deafness, autosomal dominant 4; Template:OMIM2; MYH14
- Deafness, autosomal dominant 44; Template:OMIM2; CCDC50
- Deafness, autosomal dominant 48; Template:OMIM2; MYO1A
- Deafness, autosomal dominant 5; Template:OMIM2; DFNA5
- Deafness, autosomal dominant 50; Template:OMIM2; MIR96
- Deafness, autosomal dominant 8/12; Template:OMIM2; TECTA
- Deafness, autosomal dominant 9; Template:OMIM2; COCH
- Deafness, autosomal recessive 10, congenital; Template:OMIM2; TMPRSS3
- Deafness, autosomal recessive 12; Template:OMIM2; CDH23
- Deafness, autosomal recessive 16; Template:OMIM2; STRC
- Deafness, autosomal recessive 18; Template:OMIM2; USH1C
- Deafness, autosomal recessive 1A; Template:OMIM2; GJB2
- Deafness, autosomal recessive 1B; Template:OMIM2; GJB6
- Deafness, autosomal recessive 2, neurosensory; Template:OMIM2; MYO7A
- Deafness, autosomal recessive 21; Template:OMIM2; TECTA
- Deafness, autosomal recessive 22; Template:OMIM2; OTOA
- Deafness, autosomal recessive 23; Template:OMIM2; PCDH15
- Deafness, autosomal recessive 25; Template:OMIM2; GRXCR1
- Deafness, autosomal recessive 28; Template:OMIM2; TRIOBP
- Deafness, autosomal recessive 3; Template:OMIM2; MYO15A
- Deafness, autosomal recessive 30; Template:OMIM2; MYO3A
- Deafness, autosomal recessive 31; Template:OMIM2; WHRN
- Deafness, autosomal recessive 35; Template:OMIM2; ESRRB
- Deafness, autosomal recessive 36; Template:OMIM2; ESPN
- Deafness, autosomal recessive 37; Template:OMIM2; MYO6
- Deafness, autosomal recessive 39; Template:OMIM2; HGF
- Deafness, autosomal recessive 49; Template:OMIM2; MARVELD2
- Deafness, autosomal recessive 53; Template:OMIM2; COL11A2
- Deafness, autosomal recessive 59; Template:OMIM2; PJVK
- Deafness, autosomal recessive 6; Template:OMIM2; TMIE
- Deafness, autosomal recessive 63; Template:OMIM2; LRTOMT
- Deafness, autosomal recessive 67; Template:OMIM2; LHFPL5
- Deafness, autosomal recessive 7; Template:OMIM2; TMC1
- Deafness, autosomal recessive 77; Template:OMIM2; LOXHD1
- Deafness, autosomal recessive 79; Template:OMIM2; TPRN
- Deafness, autosomal recessive 8, childhood onset; Template:OMIM2; TMPRSS3
- Deafness, autosomal recessive 84; Template:OMIM2; PTPRQ
- Deafness, autosomal recessive 9; Template:OMIM2; OTOF
- Deafness, autosomal recessive 91; Template:OMIM2; SERPINB6
- Deafness, autosomal recessive, 24; Template:OMIM2; RDX
- Deafness, congenital with inner ear agenesis, microtia, and microdontia; Template:OMIM2; FGF3
- Deafness, digenic GJB2/GJB6; Template:OMIM2; GJB6
- Deafness, digenic, GJB2/GJB3; Template:OMIM2; GJB3
- Deafness, sensorineural, with hypertrophic cardiomyopathy; Template:OMIM2; MYO6
- Deafness, X-linked 1; Template:OMIM2; PRPS1
- Deafness, X-linked 2; Template:OMIM2; POU3F4
- Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; Template:OMIM2; PIEZO1
- Dejerine–Sottas disease; Template:OMIM2; PMP22
- Dejerine–Sottas neuropathy; Template:OMIM2; EGR2
- Dejerine–Sottas neuropathy, autosomal recessive; Template:OMIM2; PRX
- Dejerine–Sottas syndrome; Template:OMIM2; MPZ
- Dementia, familial British; Template:OMIM2; ITM2B
- Dementia, familial Danish; Template:OMIM2; ITM2B
- Dementia, familial, nonspecific; Template:OMIM2; CHMP2B
- Dementia, frontotemporal; Template:OMIM2; PSEN1
- Dementia, frontotemporal, with or without parkinsonism; Template:OMIM2; MAPT
- Dementia, Lewy body; Template:OMIM2; SNCA
- Dementia, Lewy body; Template:OMIM2; SNCB
- Dent's disease 2; Template:OMIM2; OCRL
- Dent's disease; Template:OMIM2; CLCN5
- Dentatorubr–pallidoluysian atrophy; Template:OMIM2; ATN1
- Dentin dysplasia, type II; Template:OMIM2; DSPP
- Dentinogenesis imperfecta, Shields type II; Template:OMIM2; DSPP
- Dentinogenesis imperfecta, Shields type III; Template:OMIM2; DSPP
- Denys–Drash syndrome; Template:OMIM2; WT1
- Dermatopathia pigmentosa reticularis; Template:OMIM2; KRT14
- Desbuquois dysplasia; Template:OMIM2; CANT1
- Desmoid disease, hereditary; Template:OMIM2; APC
- Desmosterolosis; Template:OMIM2; DHCR24
- Diabetes insipidus, nephrogenic; Template:OMIM2; AQP2
- Diabetes insipidus, nephrogenic; Template:OMIM2; AVPR2
- Diabetes insipidus, neurohypophyseal; Template:OMIM2; AVP
- Diabetes mellitus, gestational; Template:OMIM2; GCK
- Diabetes mellitus, insulin-dependent, 2; Template:OMIM2; INS
- Diabetes mellitus, insulin-dependent, 20; Template:OMIM2; HNF1A
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Template:OMIM2; INSR
- Diabetes mellitus, ketosis-prone; Template:OMIM2; PAX4
- Diabetes mellitus, neonatal, with congenital hypothyroidism; Template:OMIM2; GLIS3
- Diabetes mellitus, noninsulin-dependent; Template:OMIM2; ABCC8
- Diabetes mellitus, noninsulin-dependent; Template:OMIM2; HNF1B
- Diabetes mellitus, noninsulin-dependent, late onset; Template:OMIM2; GCK
- Diabetes mellitus, permanent neonatal; Template:OMIM2; ABCC8
- Diabetes mellitus, permanent neonatal; Template:OMIM2; GCK
- Diabetes mellitus, permanent neonatal; Template:OMIM2; INS
- Diabetes mellitus, permanent neonatal, with cerebellar agenesis; Template:OMIM2; PTF1A
- Diabetes mellitus, permanent neonatal, with neurologic features; Template:OMIM2; KCNJ11
- Diabetes mellitus, transient neonatal 2; Template:OMIM2; ABCC8
- Diabetes mellitus, transient neonatal, 1; Template:OMIM2; ZFP57
- Diabetes mellitus, transient neonatal, 3; Template:OMIM2; KCNJ11
- Diabetes mellitus, type 1; Template:OMIM2; INS
- Diabetes mellitus, type 2; Template:OMIM2; PAX4
- Diabetes mellitus type II; Template:OMIM2; AKT2
- Diabetes, permanent neonatal; Template:OMIM2; KCNJ11
- Diamond–Blackfan anemia 1; Template:OMIM2; RPS19
- Diamond–Blackfan anemia 10; Template:OMIM2; RPS26
- Diamond-Blackfan anemia 4; Template:OMIM2; RPS17
- Diamond–Blackfan anemia 5; Template:OMIM2; RPL35A
- Diamond–Blackfan anemia 6; Template:OMIM2; RPL5
- Diamond–Blackfan anemia 7; Template:OMIM2; RPL11
- Diamond–Blackfan anemia 8; Template:OMIM2; RPS7
- Diamond–Blackfan anemia 9; Template:OMIM2; RPS10
- Diamond–Blackfan anemia; Template:OMIM2; RPS24
- Diaphragmatic hernia 3; Template:OMIM2; ZFPM2
- Diarrhea 3, secretory sodium, congenital, syndromic; Template:OMIM2; SPINT2
- Diarrhea 4, malabsorptive, congenital; Template:OMIM2; NEUROG3
- Diarrhea 5, with tufting enteropathy, congenital; Template:OMIM2; EPCAM
- Diastrophic dysplasia; Template:OMIM2; SLC26A2
- Diastrophic dysplasia, broad bone-platyspondylic variant; Template:OMIM2; SLC26A2
- Dicarboxylic aminoaciduria; Template:OMIM2; SLC1A1
- DiGeorge syndrome; Template:OMIM2; TBX1
- Digital clubbing, isolated congenital; Template:OMIM2; HPGD
- Dihydropyrimidine dehydrogenase deficiency; Template:OMIM2; DPYD
- Dihydropyrimidinuria; Template:OMIM2; DPYS
- Dilated cardiomyopathy with woolly hair and keratoderma; Template:OMIM2; DSP
- Dimethylglycine dehydrogenase deficiency; Template:OMIM2; DMGDH
- Disordered steroidogenesis, isolated; Template:OMIM2; POR
- Donnai–Barrow syndrome; Template:OMIM2; LRP2
- Dopamine beta-hydroxylase deficiency; Template:OMIM2; DBH
- Dosage-sensitive sex reversal; Template:OMIM2; DAX1
- Double outlet right ventricle; Template:OMIM2; CFC1
- Double outlet right ventricle; Template:OMIM2; GDF1
- Dowling–Degos disease; Template:OMIM2; KRT5
- Doyne honeycomb degeneration of retina; Template:OMIM2; EFEMP1
- Dravet syndrome; Template:OMIM2; SCN1A
- Duane retraction syndrome 2; Template:OMIM2; CHN1
- Duane-radial ray syndrome; Template:OMIM2; SALL4
- Dubin–Johnson syndrome; Template:OMIM2; ABCC2
- Duchenne muscular dystrophy; Template:OMIM2; DMD
- Dyggve–Melchior–Clausen disease; Template:OMIM2; DYM
- Dysautonomia, familial; Template:OMIM2; IKBKAP
- Dyschromatosis symmetrica hereditaria; Template:OMIM2; ADAR
- Dyserythropoietic anemia with thrombocytopenia; Template:OMIM2; GATA1
- Dyskeratosis congenita; Template:OMIM2; TERT
- Dyskeratosis congenita; Template:OMIM2; NOLA2
- Dyskeratosis congenita, autosomal dominant; Template:OMIM2; TERC
- Dyskeratosis congenita, autosomal dominant; Template:OMIM2; TINF2
- Dyskeratosis congenita, autosomal recessive; Template:OMIM2; NOLA3
- Dyskeratosis congenita-1; Template:OMIM2; DKC1
- Dyssegmental dysplasia, Silverman-Handmaker type; Template:OMIM2; HSPG2
- Dystonia 16; Template:OMIM2; PRKRA
- Dystonia 6, torsion; Template:OMIM2; THAP1
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; Template:OMIM2; SPR
- Dystonia, DOPA-responsive, with or without hyperphenylalainemia; Template:OMIM2; GCH1
- Dystonia, juvenile-onset; Template:OMIM2; ACTB
- Dystonia, myoclonic; Template:OMIM2; DRD2
- Dystonia-1, torsion; Template:OMIM2; DYT1
- Dystonia-11, myoclonic; Template:OMIM2; SGCE
- Dystonia-12; Template:OMIM2; ATP1A3
- Dystonia-parkinsonism, adult-onset; Template:OMIM2; PLA2G6
- Dystonia-Parkinsonism, X-linked; Template:OMIM2; TAF1
- EBD inversa; Template:OMIM2; COL7A1
- EBD, Bart type; Template:OMIM2; COL7A1
- Ectodermal dysplasia, anhidrotic, autosomal dominant; Template:OMIM2; EDARADD
- Ectodermal dysplasia, anhidrotic, autosomal recessive; Template:OMIM2; EDARADD
- Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; Template:OMIM2; NFKBIA
- Ectodermal dysplasia, anhidrotic, X-linked; Template:OMIM2; ED1
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy; Template:OMIM2; CDH3
- Ectodermal dysplasia, hidrotic; Template:OMIM2; GJB6
- Ectodermal dysplasia, hypohidrotic, autosomal dominant; Template:OMIM2; EDAR
- Ectodermal dysplasia, hypohidrotic, autosomal recessive; Template:OMIM2; EDAR
- Ectodermal dysplasia, hypohidrotic, with immune deficiency; Template:OMIM2; IKBKG
- Ectodermal dysplasia, 'pure' hair-nail type; Template:OMIM2; KRT85
- Ectodermal dysplasia-skin fragility syndrome; Template:OMIM2; PKP1
- Ectodermal dysplasia-syndactyly syndrome 1; Template:OMIM2; PVRL4
- Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; Template:OMIM2; IKBKG
- Ectopia lentis, familial; Template:OMIM2; FBN1
- Ectopia lentis, isolated, autosomal recessive; Template:OMIM2; ADAMTSL4
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Template:OMIM2; TP63
- Ehlers–Danlos due to tenascin X deficiency; Template:OMIM2; TNXB
- Ehlers–Danlos syndrome, cardiac valvular form; Template:OMIM2; COL1A2
- Ehlers–Danlos syndrome, hypermobility type; Template:OMIM2; TNXB
- Ehlers-Danlos syndrome, musculocontractural type; Template:OMIM2; CHST14
- Ehlers–Danlos syndrome, progeroid form; Template:OMIM2; B4GALT7
- Ehlers–Danlos syndrome, type I; Template:OMIM2; COL1A1
- Ehlers–Danlos syndrome, type I; Template:OMIM2; COL5A1
- Ehlers–Danlos syndrome, type I; Template:OMIM2; COL5A2
- Ehlers–Danlos syndrome, type II; Template:OMIM2; COL5A1
- Ehlers–Danlos syndrome, type III; Template:OMIM2; COL3A1
- Ehlers–Danlos syndrome, type IV; Template:OMIM2; COL3A1
- Ehlers–Danlos syndrome, type VI; Template:OMIM2; PLOD
- Ehlers–Danlos syndrome, type VIIA; Template:OMIM2; COL1A1
- Ehlers–Danlos syndrome, type VIIB; Template:OMIM2; COL1A2
- Ehlers–Danlos syndrome, type VIIC; Template:OMIM2; ADAMTS2
- Eiken syndrome; Template:OMIM2; PTHR1
- Elliptocytosis-1; Template:OMIM2; EPB41
- Elliptocytosis-2; Template:OMIM2; SPTA1
- Ellis–van Creveld syndrome; Template:OMIM2; EVC
- Ellis–van Creveld syndrome; Template:OMIM2; LBN
- Emery–Dreifuss muscular dystrophy 4; Template:OMIM2; SYNE1
- Emery–Dreifuss muscular dystrophy 5; Template:OMIM2; SYNE2
- Emery–Dreifuss muscular dystrophy 6; Template:OMIM2; FHL1
- Emery–Dreifuss muscular dystrophy; Template:OMIM2; EMD
- Emery–Dreifuss muscular dystrophy, AD; Template:OMIM2; LMNA
- Emery–Dreifuss muscular dystrophy, AR; Template:OMIM2; LMNA
- Emphysema due to AAT deficiency; Template:OMIM2; SERPINA1
- Emphysema-cirrhosis, due to AAT deficiency; Template:OMIM2; SERPINA1
- Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; Template:OMIM2; TMEM70
- Encephalopathy, familial, with neuroserpin inclusion bodies; Template:OMIM2; SERPINI1
- Encephalopathy, neonatal severe; Template:OMIM2; MECP2
- Endocrine-cerebroosteodysplasia; Template:OMIM2; ICK
- Endometrial cancer; Template:OMIM2; MLH3
- Endometrial cancer, familial; Template:OMIM2; MSH6
- Endplate acetylcholinesterase deficiency; Template:OMIM2; COLQ
- Enhanced S-cone syndrome; Template:OMIM2; NR2E3
- Enlarged vestibular aqueduct; Template:OMIM2; FOXI1
- Enlarged vestibular aqueduct; Template:OMIM2; SLC26A4
- Enterokinase deficiency; Template:OMIM2; PRSS7
- Eosinophil peroxidase deficiency; Template:OMIM2; EPX
- Epidermodysplasia verruciformis; Template:OMIM2; TMC6
- Epidermodysplasia verruciformis; Template:OMIM2; TMC8
- Epidermolysis bullosa dystrophica, AD; Template:OMIM2; COL7A1
- Epidermolysis bullosa dystrophica, AR; Template:OMIM2; COL7A1
- Epidermolysis bullosa of hands and feet; Template:OMIM2; ITGB4
- Epidermolysis bullosa pruriginosa; Template:OMIM2; COL7A1
- Epidermolysis bullosa simplex with migratory circinate erythema; Template:OMIM2; KRT5
- Epidermolysis bullosa simplex with mottled pigmentation; Template:OMIM2; KRT5
- Epidermolysis bullosa simplex with pyloric atresia; Template:OMIM2; PLEC1
- Epidermolysis bullosa simplex, Dowling-Meara type; Template:OMIM2; KRT14
- Epidermolysis bullosa simplex, Dowling-Meara type; Template:OMIM2; KRT5
- Epidermolysis bullosa simplex, Koebner type; Template:OMIM2; KRT14
- Epidermolysis bullosa simplex, Koebner type; Template:OMIM2; KRT5
- Epidermolysis bullosa simplex, Ogna type; Template:OMIM2; PLEC1
- Epidermolysis bullosa simplex, recessive; Template:OMIM2; KRT14
- Epidermolysis bullosa simplex, Weber-Cockayne type; Template:OMIM2; KRT14
- Epidermolysis bullosa simplex, Weber-Cockayne type; Template:OMIM2; KRT5
- Epidermolysis bullosa, generalized atrophic benign; Template:OMIM2; LAMA3
- Epidermolysis bullosa, junctional, Herlitz type; Template:OMIM2; LAMA3
- Epidermolysis bullosa, junctional, Herlitz type; Template:OMIM2; LAMB3
- Epidermolysis bullosa, junctional, Herlitz type; Template:OMIM2; LAMC2
- Epidermolysis bullosa, junctional, non-Herlitz type; Template:OMIM2; COL17A1
- Epidermolysis bullosa, junctional, non-Herlitz type; Template:OMIM2; ITGB4
- Epidermolysis bullosa, junctional, non-Herlitz type; Template:OMIM2; LAMB3
- Epidermolysis bullosa, junctional, non-Herlitz type; Template:OMIM2; LAMC2
- Epidermolysis bullosa, junctional, with pyloric atresia; Template:OMIM2; ITGB4
- Epidermolysis bullosa, junctional, with pyloric stenosis; Template:OMIM2; ITGA6
- Epidermolysis bullosa, lethal acantholytic; Template:OMIM2; DSP
- Epidermolysis bullosa, pretibial; Template:OMIM2; COL7A1
- Epidermolytic hyperkeratosis; Template:OMIM2; KRT1
- Epidermolytic hyperkeratosis; Template:OMIM2; KRT10
- Epidermolytic palmoplantar keratoderma; Template:OMIM2; KRT9
- Epilepsy, benign neonatal, type 2; Template:OMIM2; KCNQ3
- Epilepsy, benign, neonatal, type 1; Template:OMIM2; KCNQ2
- Epilepsy, female-restricted, with mental retardation; Template:OMIM2; PCDH19
- Epilepsy, generalized, with febrile seizures plus, type 2; Template:OMIM2; SCN1A
- Epilepsy, generalized, with febrile seizures plus, type 3; Template:OMIM2; GABRG2
- Epilepsy, juvenile myoclonic, susceptibility to; Template:OMIM2; GABRD
- Epilepsy, myoclonic, Lafora type; Template:OMIM2; EPM2A
- Epilepsy, myoclonic, Lafora type; Template:OMIM2; NHLRC1
- Epilepsy, myoclonic, with mental retardation and spasticity; Template:OMIM2; ARX
- Epilepsy, neonatal myoclonic, with suppression-burst pattern; Template:OMIM2; SLC25A22
- Epilepsy, nocturnal frontal lobe, 1; Template:OMIM2; CHRNA4
- Epilepsy, nocturnal frontal lobe, 3; Template:OMIM2; CHRNB2
- Epilepsy, nocturnal frontal lobe, type 4; Template:OMIM2; CHRNA2
- Epilepsy, partial, with auditory features; Template:OMIM2; LGI1
- Epilepsy, progressive myoclonic 1; Template:OMIM2; CSTB
- Epilepsy, progressive myoclonic 1B; Template:OMIM2; PRICKLE1
- Epilepsy, progressive myoclonic 2B; Template:OMIM2; NHLRC1
- Epilepsy, progressive myoclonic 3; Template:OMIM2; KCTD7
- Epilepsy, pyridoxine-dependent; Template:OMIM2; ALDH7A1
- Epilepsy, severe myoclonic, of infancy; Template:OMIM2; SCN1A
- Epilepsy, X-linked, with variable learning disabilities and behavior disorders; Template:OMIM2; SYN1
- Epileptic encephalopathy, early infantile, 1; Template:OMIM2; ARX
- Epileptic encephalopathy, early infantile, 2; Template:OMIM2; CDKL5
- Epileptic encephalopathy, early infantile, 4; Template:OMIM2; STXBP1
- Epileptic encephalopathy, early infantile, 5; Template:OMIM2; SPTAN1
- Epileptic encephalopathy, Lennox-Gastaut type; Template:OMIM2; MAPK10
- Epiphyseal dysplasia, multiple 1; Template:OMIM2; COMP
- Epiphyseal dysplasia, multiple, 2; Template:OMIM2; COL9A2
- Epiphyseal dysplasia, multiple, 3; Template:OMIM2; COL9A3
- Epiphyseal dysplasia, multiple, 4; Template:OMIM2; SLC26A2
- Epiphyseal dysplasia, multiple, 5; Template:OMIM2; MATN3
- Epiphyseal dysplasia, multiple, with myopia and deafness; Template:OMIM2; COL2A1
- Episodic ataxia, type 2; Template:OMIM2; CACNA1A
- Episodic ataxia, type 6; Template:OMIM2; SLC1A3
- Episodic ataxia/myokymia syndrome; Template:OMIM2; KCNA1
- Epstein syndrome; Template:OMIM2; MYH9
- Erythermalgia, primary; Template:OMIM2; SCN9A
- Erythrocyte lactate transporter defect; Template:OMIM2; SLC16A1
- Erythrocytosis, familial, 3; Template:OMIM2; EGLN1
- Erythrocytosis, familial, 4; Template:OMIM2; EPAS1
- Erythrokeratodermia variabilis et progressiva; Template:OMIM2; GJB3
- Erythrokeratodermia variabilis with erythema gyratum repens; Template:OMIM2; GJB4
- Escobar syndrome; Template:OMIM2; CHRNG
- Esophageal cancer; Template:OMIM2; DLEC1
- Esophageal cancer, somatic; Template:OMIM2; TGFBR2
- Esophageal carcinoma, somatic; Template:OMIM2; RNF6
- Esophageal squamous cell carcinoma; Template:OMIM2; 40513
- Esophageal squamous cell carcinoma; Template:OMIM2; LZTS1
- Esophageal squamous cell carcinoma; Template:OMIM2; WWOX
- Ethylmalonic encephalopathy; Template:OMIM2; ETHE1
- Ewing sarcoma; Template:OMIM2; EWSR1
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Template:OMIM2; COX4I2
- Exostoses, multiple, type 1; Template:OMIM2; EXT1
- Exostoses, multiple, type 2; Template:OMIM2; EXT2
- Exudative vitreoretinopathy 4; Template:OMIM2; LRP5
- Exudative vitreoretinopathy 5; Template:OMIM2; TSPAN12
- Exudative vitreoretinopathy; Template:OMIM2; FZD4
- Exudative vitreoretinopathy, X-linked; Template:OMIM2; NDP
- Fabry disease; Template:OMIM2; GLA
- Fabry disease, cardiac variant; Template:OMIM2; GLA
- Factor V and factor VIII, combined deficiency of; Template:OMIM2; MCFD2
- Factor V deficiency; Template:OMIM2; F5
- Factor XI deficiency, autosomal dominant; Template:OMIM2; F11
- Factor XI deficiency, autosomal recessive; Template:OMIM2; F11
- Factor XII deficiency; Template:OMIM2; F12
- Factor XIIIA deficiency; Template:OMIM2; F13A1
- Factor XIIIB deficiency; Template:OMIM2; F13B
- Failure of tooth eruption, primary; Template:OMIM2; PTHR1
- Familial cold autoinflammatory syndrome 2; Template:OMIM2; NALP12
- Familial Mediterranean fever, AD; Template:OMIM2; MEFV
- Familial Mediterranean fever, AR; Template:OMIM2; MEFV
- Fanconi anemia, complementation group 0; Template:OMIM2; RAD51C
- Fanconi anemia, complementation group A; Template:OMIM2; FANCA
- Fanconi anemia, complementation group B; Template:OMIM2; FAAP95
- Fanconi anemia, complementation group D1; Template:OMIM2; BRCA2
- Fanconi anemia, complementation group I; Template:OMIM2; FANCI
- Fanconi anemia, complementation group J; Template:OMIM2; BRIP1
- Fanconi anemia, complementation group N; Template:OMIM2; PALB2
- Fanconi renotubular syndrome 2; Template:OMIM2; SLC34A1
- Fanconi–Bickel syndrome; Template:OMIM2; SLC2A2
- Farber lipogranulomatosis; Template:OMIM2; ASAH1
- Fatty liver, acute, of pregnancy; Template:OMIM2; HADHA
- Febrile convulsions, familial, 3A; Template:OMIM2; SCN1A
- Febrile convulsions, familial, 3B; Template:OMIM2; SCN9A
- Febrilel, convulsions, familial; Template:OMIM2; GABRG2
- Fechtner syndrome; Template:OMIM2; MYH9
- Feingold syndrome; Template:OMIM2; MYCN
- Fertile eunuch syndrome; Template:OMIM2; GNRHR
- Fetal akinesia deformation sequence; Template:OMIM2; DOK7
- Fetal akinesia deformation sequence; Template:OMIM2; RAPSN
- Fetal hemoglobin quantitative trait locus 1; Template:OMIM2; HBG1
- Fetal hemoglobin quantitative trait locus 1; Template:OMIM2; HBG2
- FG syndrome 2; Template:OMIM2; FLNA
- FG syndrome 4; Template:OMIM2; CASK
- Fibrodysplasia ossificans progressiva; Template:OMIM2; ACVR1
- Fibromatosis, gingival; Template:OMIM2; SOS1
- Fibromatosis, gingival, 2; Template:OMIM2; GINGF2
- Fibromatosis, juvenile hyaline; Template:OMIM2; ANTXR2
- Fibrosis of extraocular muscles, congenital, 1; Template:OMIM2; KIF21A
- Fibrosis of extraocular muscles, congenital, 2; Template:OMIM2; PHOX2A
- Fibrosis of extraocular muscles, congenital, 3A; Template:OMIM2; TUBB3
- Fibrosis of extraocular muscles, congenital, 3B; Template:OMIM2; KIF21A
- Fibular hypoplasia and complex brachydactyly; Template:OMIM2; GDF5
- Fish-eye disease; Template:OMIM2; LCAT
- Fletcher factor deficiency; Template:OMIM2; KLKB1
- Focal cortical dysplasia, Taylor balloon cell type; Template:OMIM2; TSC1
- Focal dermal hypoplasia; Template:OMIM2; PORCN
- Folate malabsorption, hereditary; Template:OMIM2; SLC46A1
- Follicle-stimulating hormone deficiency, isolated; Template:OMIM2; FSHB
- Foveal hyperplasia; Template:OMIM2; PAX6
- Foveomacular dystrophy, adult-onset, with choroidal neovascularization; Template:OMIM2; PRPH2
- Fragile X syndrome; Template:OMIM2; FMR1
- Fragile X tremor/ataxia syndrome; Template:OMIM2; FMR1
- Frank-ter Haar syndrome; Template:OMIM2; SH3PXD2B
- Fraser syndrome; Template:OMIM2; FRAS1
- Fraser syndrome; Template:OMIM2; FREM2
- Frasier syndrome; Template:OMIM2; WT1
- Friedreich's ataxia with retained reflexes; Template:OMIM2; FXN
- Friedreich's ataxia; Template:OMIM2; FXN
- Frontometaphyseal dysplasia; Template:OMIM2; FLNA
- Frontonasal dysplasia 2; Template:OMIM2; ALX4
- Frontonasal dysplasia 3; Template:OMIM2; ALX1
- Frontorhiny; Template:OMIM2; ALX3
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions; Template:OMIM2; GRN
- Frontotemporal lobar degeneration, TARDBP-related; Template:OMIM2; TARDBP
- Fructose intolerance; Template:OMIM2; ALDOB
- Fructose-1,6-bisphosphatase deficiency; Template:OMIM2; FBP1
- Fucosidosis; Template:OMIM2; FUCA1
- Fuhrmann syndrome; Template:OMIM2; WNT7A
- Fumarase deficiency; Template:OMIM2; FH
- Fundus albipunctatus; Template:OMIM2; RDH5
- Fundus albipunctatus; Template:OMIM2; RLBP1
- Fundus flavimaculatus; Template:OMIM2; ABCA4
- GABA-transaminase deficiency; Template:OMIM2; ABAT
- Galactokinase deficiency with cataracts; Template:OMIM2; GALK1
- Galactose epimerase deficiency; Template:OMIM2; GALE
- Galactosemia; Template:OMIM2; GALT
- Galactosialidosis; Template:OMIM2; CTSA
- Gallbladder disease 1; Template:OMIM2; ABCB4
- Gallbladder disease 4; Template:OMIM2; ABCG8
- GAMT deficiency; Template:OMIM2; GAMT
- Gastric cancer, familial diffuse; Template:OMIM2; CDH1
- Gastric cancer, somatic; Template:OMIM2; APC
- Gastric cancer, somatic; Template:OMIM2; CASP10
- Gastric cancer, somatic; Template:OMIM2; ERBB2
- Gastric cancer, somatic; Template:OMIM2; FGFR2
- Gastric cancer, somatic; Template:OMIM2; IRF1
- Gastric cancer, somatic; Template:OMIM2; KLF6
- Gastric cancer, somatic; Template:OMIM2; MUTYH
- Gastric cancer, somatic; Template:OMIM2; PIK3CA
- Gastrointestinal stromal tumor, somatic; Template:OMIM2; KIT
- Gastrointestinal stromal tumor, somatic; Template:OMIM2; PDGFRA
- Gaucher disease, atypical; Template:OMIM2; PSAP
- Gaucher disease, perinatal lethal; Template:OMIM2; GBA
- Gaucher disease, type; Template:OMIM2; GBA
- Gaucher disease, type II; Template:OMIM2; GBA
- Gaucher disease, type III; Template:OMIM2; GBA
- Gaucher disease, type IIIC; Template:OMIM2; GBA
- Gaze palsy, horizontal, with progressive scoliosis; Template:OMIM2; ROBO3
- Geleophysic dysplasia; Template:OMIM2; ADAMTSL2
- Generalized epilepsy and paroxysmal dyskinesia; Template:OMIM2; KCNMA1
- Generalized epilepsy with febrile seizures plus; Template:OMIM2; SCN1B
- Germ cell tumors; Template:OMIM2; KIT
- Geroderma osteodysplasticum; Template:OMIM2; SCYL1BP1
- Gerstmann–Sträussler–Scheinker syndrome; Template:OMIM2; PRNP
- Ghosal syndrome; Template:OMIM2; TBXAS1
- Giant axonal neuropathy-1; Template:OMIM2; GAN
- Gillespie syndrome; Template:OMIM2; PAX6
- Gitelman syndrome; Template:OMIM2; SLC12A3
- Glanzmann thrombasthenia, type A; Template:OMIM2; ITGA2B
- Glaucoma 1, open angle, 1O; Template:OMIM2; NTF4
- Glaucoma 1, open angle, E; Template:OMIM2; OPTN
- Glaucoma 1, open angle, G; Template:OMIM2; WDR36
- Glaucoma 1A, primary open angle, juvenile-onset; Template:OMIM2; MYOC
- Glaucoma 1B, primary open angle, adult onset; Template:OMIM2; GLC1B
- Glaucoma 3, primary congenital, D; Template:OMIM2; LTBP2
- Glaucoma 3A, primary congenital; Template:OMIM2; CYP1B1
- Glaucoma, primary open angle, adult-onset; Template:OMIM2; CYP1B1
- Glaucoma, primary open angle, juvenile-onset; Template:OMIM2; CYP1B1
- Glioblastoma, somatic; Template:OMIM2; ERBB2
- Globozoospermia; Template:OMIM2; GOPC
- Globozoospermia; Template:OMIM2; SPATA16
- Glomerulocystic kidney disease with hyperuricemia and isosthenuria; Template:OMIM2; UMOD
- Glomerulopathy with fibronectin deposits 2; Template:OMIM2; FN1
- Glomerulosclerosis, focal segmental, 1; Template:OMIM2; ACTN4
- Glomerulosclerosis, focal segmental, 2; Template:OMIM2; TRPC6
- Glomerulosclerosis, focal segmental, 3; Template:OMIM2; CD2AP
- Glomerulosclerosis, focal segmental, 5; Template:OMIM2; INF2
- Glomuvenous malformations; Template:OMIM2; GLML
- Glucocorticoid deficiency 2; Template:OMIM2; MRAP
- Glucocorticoid deficiency, due to ACTH unresponsiveness; Template:OMIM2; MC2R
- Glucose-galactose malabsorption; Template:OMIM2; SLC5A1
- GLUT1 deficiency syndrome 1; Template:OMIM2; SLC2A1
- GLUT1 deficiency syndrome 2; Template:OMIM2; SLC2A1
- Glutamate formiminotransferase deficiency; Template:OMIM2; FTCD
- Glutamine deficiency, congenital; Template:OMIM2; GLUL
- Glutaricaciduria, type I; Template:OMIM2; GCDH
- Glutaricaciduria, type IIA; Template:OMIM2; ETFA
- Glutaricaciduria, type IIB; Template:OMIM2; ETFB
- Glutaricaciduria, type IIC; Template:OMIM2; ETFDH
- Glutathione synthetase deficiency; Template:OMIM2; GSS
- Glycerol kinase deficiency; Template:OMIM2; GK
- Glycine encephalopathy; Template:OMIM2; AMT
- Glycine encephalopathy; Template:OMIM2; GCSH
- Glycine encephalopathy; Template:OMIM2; GLDC
- Glycine N-methyltransferase deficiency; Template:OMIM2; GNMT
- Glycogen storage disease 0, muscle; Template:OMIM2; GYS1
- Glycogen storage disease Ib; Template:OMIM2; SLC37A4
- Glycogen storage disease Ic; Template:OMIM2; SLC37A4
- Glycogen storage disease Ic; Template:OMIM2; SLC17A3
- Glycogen storage disease II; Template:OMIM2; GAA
- Glycogen storage disease IIb; Template:OMIM2; LAMP2
- Glycogen storage disease IIIa; Template:OMIM2; AGL
- Glycogen storage disease IIIb; Template:OMIM2; AGL
- Glycogen storage disease IV; Template:OMIM2; GBE1
- Glycogen storage disease IXc; Template:OMIM2; PHKG2
- Glycogen storage disease of heart, lethal congenital; Template:OMIM2; PRKAG2
- Glycogen storage disease VII; Template:OMIM2; PFKM
- Glycogen storage disease X; Template:OMIM2; PGAM2
- Glycogen storage disease XI; Template:OMIM2; LDHA
- Glycogen storage disease XII; Template:OMIM2; ALDOA
- Glycogen storage disease XIII; Template:OMIM2; ENO3
- Glycogen storage disease XIV; Template:OMIM2; PGM1
- Glycogen storage disease XV; Template:OMIM2; GYG1
- Glycogen storage disease type 0; Template:OMIM2; GYS2
- Glycogen storage disease, type IXa1; Template:OMIM2; PHKA2
- Glycogen storage disease, type IXa2; Template:OMIM2; PHKA2
- Glycosylphosphatidylinositol deficiency; Template:OMIM2; PIGM
- GM1-gangliosidosis, type I; Template:OMIM2; GLB1
- GM1-gangliosidosis, type II; Template:OMIM2; GLB1
- GM1-gangliosidosis, type III; Template:OMIM2; GLB1
- GM2-gangliosidosis, AB variant; Template:OMIM2; GM2A
- GM2-gangliosidosis, several forms; Template:OMIM2; HEXA
- Gnathodiaphyseal dysplasia; Template:OMIM2; ANO5
- Goldberg-Shpritzen megacolon syndrome; Template:OMIM2; KIAA1279
- Gout, PRPS-related; Template:OMIM2; PRPS1
- GRACILE syndrome; Template:OMIM2; BCS1L
- Greenberg dysplasia; Template:OMIM2; LBR
- Greig cephalopolysyndactyly syndrome; Template:OMIM2; GLI3
- Griscelli syndrome type 1; Template:OMIM2; MYO5A
- Griscelli syndrome type 2; Template:OMIM2; RAB27A
- Griscelli syndrome type 3; Template:OMIM2; MLPH
- Growth hormone deficiency with pituitary anomalies; Template:OMIM2; HESX1
- Growth hormone deficiency, isolated, type IA; Template:OMIM2; GH1
- Growth hormone deficiency, isolated, type IB; Template:OMIM2; GH1
- Growth hormone deficiency, isolated, type IB; Template:OMIM2; GHRHR
- Growth hormone deficiency, isolated, type II; Template:OMIM2; GH1
- Growth hormone insensitivity with immunodeficiency; Template:OMIM2; STAT5B
- Growth retardation with deafness and mental retardation due to IGF1 deficiency; Template:OMIM2; IGF1
- Growth retardation, developmental delay, coarse facies, and early death; Template:OMIM2; FTO
- Guttmacher syndrome; Template:OMIM2; HOXA13
- Gyrate atrophy of choroid and retina with or without ornithinemia; Template:OMIM2; OAT
- Haddad syndrome; Template:OMIM2; ASCL1
- Hailey–Hailey disease; Template:OMIM2; ATP2C1
- Haim–Munk syndrome; Template:OMIM2; CTSC
- Hallermann–Streiff syndrome; Template:OMIM2; GJA1
- Hand-foot-uterus Syndrome; Template:OMIM2; HOXA13
- Harderoporphyria; Template:OMIM2; CPOX
- HARP syndrome; Template:OMIM2; PANK2
- Hartnup disorder; Template:OMIM2; SLC6A19
- Hawkinsinuria; Template:OMIM2; HPD
- Hay–Wells syndrome; Template:OMIM2; TP63
- HDL deficiency, type 2; Template:OMIM2; ABCA1
- Hearing loss, low-frequency sensorineural; Template:OMIM2; WFS1
- Heart block, nonprogressive; Template:OMIM2; SCN5A
- Heart block, progressive, type IA; Template:OMIM2; SCN5A
- Heinz body anemia; Template:OMIM2; HBA2
- Heinz body anemias, alpha-; Template:OMIM2; HBA1
- Heinz body anemias, beta-; Template:OMIM2; HBB
- HELLP syndrome, maternal, of pregnancy; Template:OMIM2; HADHA
- Hemangioma, capillary infantile, somatic; Template:OMIM2; FLT4
- Hemangioma, capillary infantile, somatic; Template:OMIM2; KDR
- Hematopoiesis, cyclic; Template:OMIM2; ELANE
- Hematuria, benign familial; Template:OMIM2; COL4A3
- Hemiplegic migraine, familial; Template:OMIM2; CACNA1A
- Hemochromatosis, type 2A; Template:OMIM2; HJV
- Hemochromatosis, type 2B; Template:OMIM2; HAMP
- Hemochromatosis, type 3; Template:OMIM2; TFR2
- Hemochromatosis, type 4; Template:OMIM2; SLC40A1
- Hemolytic anemia due to adenylate kinase deficiency; Template:OMIM2; AK1
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; Template:OMIM2; GCLC
- Hemolytic anemia due to glutathione synthetase deficiency; Template:OMIM2; GSS
- Hemolytic anemia due to hexokinase deficiency; Template:OMIM2; HK1
- Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Template:OMIM2; GPI
- Hemolytic uremic syndrome, atypical, susceptibility to, 1; Template:OMIM2; HF1
- Hemophagocytic lymphohistiocytosis, familial, 2; Template:OMIM2; PRF1
- Hemophagocytic lymphohistiocytosis, familial, 3; Template:OMIM2; UNC13D
- Hemophagocytic lymphohistiocytosis, familial, 4; Template:OMIM2; STX11
- Hemophilia B; Template:OMIM2; F9
- Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; Template:OMIM2; SERPINA1
- Hemosiderosis, systemic, due to aceruloplasminemia; Template:OMIM2; CP
- Hennekam lymphangiectasia-lymphedema syndrome; Template:OMIM2; CCBE1
- Hepatic adenoma; Template:OMIM2; HNF1A
- Hepatic venoocclusive disease with immunodeficiency; Template:OMIM2; SP110
- Hepatocellular cancer; Template:OMIM2; PDGFRL
- Hepatocellular carcinoma; Template:OMIM2; CTNNB1
- Hepatocellular carcinoma; Template:OMIM2; TP53
- Hepatocellular carcinoma, childhood type; Template:OMIM2; MET
- Hepatocellular carcinoma, somatic; Template:OMIM2; AXIN1
- Hepatocellular carcinoma, somatic; Template:OMIM2; CASP8
- Hepatocellular carcinoma, somatic; Template:OMIM2; PIK3CA
- Hereditary hemorrhagic telangiectasia-1; Template:OMIM2; ENG
- Hereditary hemorrhagic telangiectasia-2; Template:OMIM2; ACVRL1
- Hereditary motor and sensory neuropathy VI; Template:OMIM2; MFN2
- Hereditary motor and sensory neuropathy, type IIc; Template:OMIM2; TRPV4
- Hermansky–Pudlak syndrome 1; Template:OMIM2; HPS1
- Hermansky–Pudlak syndrome 2; Template:OMIM2; AP3B1
- Hermansky–Pudlak syndrome 3; Template:OMIM2; HPS3
- Hermansky–Pudlak syndrome 4; Template:OMIM2; HPS4
- Hermansky–Pudlak syndrome 5; Template:OMIM2; HPS5
- Hermansky–Pudlak syndrome 6; Template:OMIM2; HPS6
- Hermansky–Pudlak syndrome 7; Template:OMIM2; DTNBP1
- Hermansky–Pudlak syndrome 8; Template:OMIM2; BLOC1S3
- Heterotaxy, visceral, 1, S-linke; Template:OMIM2; ZIC3
- Heterotaxy, visceral, 2, autosomal; Template:OMIM2; CFC1
- Heterotaxy, visceral, 5; Template:OMIM2; NODAL
- Heterotopia, periventricular; Template:OMIM2; FLNA
- Heterotopia, periventricular, ED variant; Template:OMIM2; FLNA
- Hirschsprung's disease; Template:OMIM2; GDNF
- Hirschsprung's disease; Template:OMIM2; RET
- Hirschsprung disease, short-segment; Template:OMIM2; PMX2B
- Histiocytoma, angiomatoid fibrous, somatic; Template:OMIM2; CREB1
- HMG-CoA synthase-2 deficiency; Template:OMIM2; HMGCS2
- Hodgkin's lymphoma; Template:OMIM2; KLHDC8B
- Holocarboxylase synthetase deficiency; Template:OMIM2; HLCS
- Holoprosencephaly-2; Template:OMIM2; SIX3
- Holoprosencephaly-3; Template:OMIM2; SHH
- Holoprosencephaly-4; Template:OMIM2; TGIF
- Holoprosencephaly-5; Template:OMIM2; ZIC2
- Holoprosencephaly-7; Template:OMIM2; PTCH1
- Holoprosencephaly-9; Template:OMIM2; GLI2
- Holt-Oram syndrome; Template:OMIM2; TBX5
- Homocystinuria due to MTHFR deficiency; Template:OMIM2; MTHFR
- Homocystinuria, B6-responsive and nonresponsive types; Template:OMIM2; CBS
- Homocystinuria, cblD type, variant 1; Template:OMIM2; C2orf25
- Homocystinuria-megaloblastic anemia, cbl E type; Template:OMIM2; MTRR
- Hoyeraal-Hreidarsson syndrome; Template:OMIM2; DKC1
- HPRT-related gout; Template:OMIM2; HPRT1
- Huntington's disease; Template:OMIM2; HTT
- Huntington disease-like 1; Template:OMIM2; PRNP
- Huntington disease-like 2; Template:OMIM2; JPH3
- Hutchinson–Gilford progeria syndrome; Template:OMIM2; LMNA
- Hyalinosis, infantile systemic; Template:OMIM2; ANTXR2
- Hydatidiform mole; Template:OMIM2; NALP7
- Hydranencephaly with abnormal genitalia; Template:OMIM2; ARX
- Hydrocephalus due to aqueductal stenosis; Template:OMIM2; L1CAM
- Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; Template:OMIM2; L1CAM
- Hydrocephalus with Hirschsprung disease and cleft palate; Template:OMIM2; L1CAM
- Hydrolethalus syndrome; Template:OMIM2; HYLS1
- Hyperalphalipoproteinemia; Template:OMIM2; CETP
- Hyperbilirubinemia, familial transcient neonatal; Template:OMIM2; UGT1A1
- Hypercarotenemia and vitamin A deficiency, autosomal dominant; Template:OMIM2; BCMO1
- Hypercholanemia, familial; Template:OMIM2; BAAT
- Hypercholanemia, familial; Template:OMIM2; EPHX1
- Hypercholanemia, familial; Template:OMIM2; TJP2
- Hypercholesterolemia, due to ligand-defective apo B; Template:OMIM2; APOB
- Hypercholesterolemia, familial; Template:OMIM2; LDLR
- Hypercholesterolemia, familial, 3; Template:OMIM2; PCSK9
- Hypercholesterolemia, familial, autosomal recessive; Template:OMIM2; LDLRAP1
- Hypercholesterolemia, familial, modification of; Template:OMIM2; APOA2
- Hyperchylomicronemia, late-onset; Template:OMIM2; APOA5
- Hyperekplexia and epilepsy; Template:OMIM2; ARHGEF9
- Hyperekplexia; Template:OMIM2; GPHN
- Hyperekplexia; Template:OMIM2; SLC6A5
- Hyperekplexia, autosomal recessive; Template:OMIM2; GLRB
- Hypereosinophilic syndrome, idiopathic, resistant to imatinib; Template:OMIM2; PDGFRA
- Hyperferritinemia-cataract syndrome; Template:OMIM2; FTL
- Hyperfibrinolysis, familial, due to increased release of PLAT; Template:OMIM2; PLAT
- Hyperglycinuria; Template:OMIM2; SLC36A2
- Hyperglycinuria; Template:OMIM2; SLC6A19
- Hyperglycinuria; Template:OMIM2; SLC6A20
- Hyper-IgD syndrome; Template:OMIM2; MVK
- Hyper-IgE recurrent infection syndrome; Template:OMIM2; STAT3
- Hyper-IgE recurrent infection syndrome, autosomal recessive; Template:OMIM2; DOCK8
- Hyperinsulinemic hypoglycemia, familial, 1; Template:OMIM2; ABCC8
- Hyperinsulinemic hypoglycemia, familial, 2; Template:OMIM2; KCNJ11
- Hyperinsulinemic hypoglycemia, familial, 3; Template:OMIM2; GCK
- Hyperinsulinemic hypoglycemia, familial, 4; Template:OMIM2; HADHSC
- Hyperinsulinemic hypoglycemia, familial, 5; Template:OMIM2; INSR
- Hyperinsulinemic hypoglycemia, familial, 7; Template:OMIM2; SLC16A1
- Hyperinsulinism-hyperammonemia syndrome; Template:OMIM2; GLUD1
- Hyperkalemic periodic paralysis, type 2; Template:OMIM2; SCN4A
- Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; Template:OMIM2; CCM1
- Hyperlipoproteinemia, type Ib; Template:OMIM2; APOC2
- Hyperlysinemia; Template:OMIM2; AASS
- Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; Template:OMIM2; MAT1A
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; Template:OMIM2; SLC25A15
- Hyperostosis, endosteal; Template:OMIM2; LRP5
- Hyperoxaluria, primary, type 1; Template:OMIM2; AGXT
- Hyperoxaluria, primary, type II; Template:OMIM2; GRHPR
- Hyperoxaluria, primary, type III; Template:OMIM2; DHDPSL
- Hyperparathyroidism, AD; Template:OMIM2; MEN1
- Hyperparathyroidism, familial primary; Template:OMIM2; HRPT2
- Hyperparathyroidism, neonatal; Template:OMIM2; CASR
- Hyperparathyroidism-jaw tumor syndrome; Template:OMIM2; HRPT2
- Hyperpehnylalaninemia, BH4-deficient, B; Template:OMIM2; GCH1
- Hyperphenylalaninemia, BH4-deficient, A; Template:OMIM2; PTS
- Hyperphenylalaninemia, BH4-deficient, C; Template:OMIM2; QDPR
- Hyperphenylalaninemia, BH4-deficient, D; Template:OMIM2; PCBD
- Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; Template:OMIM2; SLC29A3
- Hyperpigmentation, familial progressive; Template:OMIM2; KITLG
- Hyperprolinemia, type I; Template:OMIM2; PRODH
- Hyperprolinemia, type II; Template:OMIM2; ALDH4A1
- Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; Template:OMIM2; NR3C2
- Hypertension, essential; Template:OMIM2; PNMT
- Hypertension, essential; Template:OMIM2; AGTR1
- Hypertension, essential; Template:OMIM2; PTGIS
- Hyperthyroidism, familial gestational; Template:OMIM2; TSHR
- Hyperthyroidism, nonautoimmune; Template:OMIM2; TSHR
- Hypertrophic osteoarthropathy, primary, autosomal recessive; Template:OMIM2; HPGD
- Hyperuricemic nephropathy, familial juvenile 1; Template:OMIM2; UMOD
- Hyperuricemic nephropathy, familial juvenile 2; Template:OMIM2; REN
- Hypoaldosteronism, congenital, due to CMO I deficiency; Template:OMIM2; CYP11B2
- Hypoaldosteronism, congenital, due to CMO II deficiency; Template:OMIM2; CYP11B2
- Hypoalphalipoproteinemia; Template:OMIM2; APOA1
- Hypocalcemia, autosomal dominant; Template:OMIM2; CASR
- Hypocalciuric hypercalcemia, type I; Template:OMIM2; CASR
- Hypochondroplasia; Template:OMIM2; FGFR3
- Hypoglycemia of infancy, leucine-sensitive; Template:OMIM2; ABCC8
- Hypogonadism, hypogonadotropic; Template:OMIM2; PROK2
- Hypogonadotropic hypogonadism due to GNRH deficiency; Template:OMIM2; GNRH1
- Hypogonadotropic hypogonadism; Template:OMIM2; CHD7
- Hypogonadotropic hypogonadism; Template:OMIM2; FGFR1
- Hypogonadotropic hypogonadism; Template:OMIM2; KISS1R
- Hypogonadotropic hypogonadism; Template:OMIM2; NELF
- Hypogonadotropic hypogonadism; Template:OMIM2; TAC3
- Hypogonadotropic hypogonadism; Template:OMIM2; TACR3
- Hypokalemic periodic paralysis type 1; Template:OMIM2; CACNA1S
- Hypomagnesemia 4, renal; Template:OMIM2; EGF
- Hypomagnesemia with secondary hypocalcemia; Template:OMIM2; TRPM6
- Hypomagnesemia, primary; Template:OMIM2; CLDN16
- Hypomagnesemia, renal, with ocular involvement; Template:OMIM2; CLDN19
- Hypomagnesemia-2, renal; Template:OMIM2; FXYD2
- Hypomyelination, global cerebral; Template:OMIM2; SLC25A12
- Hypoparathyroidism, autosomal dominant; Template:OMIM2; PTH
- Hypoparathyroidism, autosomal recessive; Template:OMIM2; PTH
- Hypoparathyroidism, familial isolated; Template:OMIM2; GCMB
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia; Template:OMIM2; GATA3
- Hypoparathyroidism-retardation-dysmorphism syndrome; Template:OMIM2; TBCE
- Hypophosphatasia, adult; Template:OMIM2; ALPL
- Hypophosphatasia, childhood; Template:OMIM2; ALPL
- Hypophosphatasia, infantile; Template:OMIM2; ALPL
- Hypophosphatemia, X-linked; Template:OMIM2; PHEX
- Hypophosphatemic rickets with hypercalciuria; Template:OMIM2; SLC34A3
- Hypophosphatemic rickets; Template:OMIM2; CLCN5
- Hypophosphatemic rickets, AR; Template:OMIM2; DMP1
- Hypophosphatemic rickets, autosomal dominant; Template:OMIM2; FGF23
- Hypophosphatemic rickets, autosomal recessive, 2; Template:OMIM2; ENPP1
- Hypoplastic left heart syndrome; Template:OMIM2; GJA1
- Hypoproteinemia, hypercatabolic; Template:OMIM2; B2M
- Hypospadias 1, X-linked; Template:OMIM2; AR
- Hypospadias 2, X-linked; Template:OMIM2; MAMLD1
- Hypothryoidism, congenital, nongoitrous 4; Template:OMIM2; TSHB
- Hypothyroidism, congenital nongoitrous, 5; Template:OMIM2; NKX2E
- Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; Template:OMIM2; PAX8
- Hypothyroidism, congenital, nongoitrous; Template:OMIM2; TSHR
- Hypotrichosis and recurrent skin vesicles; Template:OMIM2; DSC3
- Hypotrichosis simplex of scalp; Template:OMIM2; CDSN
- Hypotrichosis, congenital, with juvenile macular dystrophy; Template:OMIM2; CDH3
- Hypotrichosis, hereditary, Marie Unna type, 1; Template:OMIM2; HR
- Hypotrichosis, localized, autosomal recessive 2; Template:OMIM2; LIPH
- Hypotrichosis, localized, autosomal recessive, 3; Template:OMIM2; P2RY5
- Hypotrichosis, localized, autosomal recessive; Template:OMIM2; DSG4
- Hypotrichosis-lymphedema-telangiectasia syndrome; Template:OMIM2; SOX18
- Hypouricemia, renal, 2; Template:OMIM2; SLC2A9
- Hypouricemia, renal; Template:OMIM2; SLC22A12
- Hystrix-like ichthyosis with deafness; Template:OMIM2; GJB2
- Ichthyosiform erythroderma, congenital; Template:OMIM2; TGM1
- Ichthyosiform erythroderma, congenital, nonbullous, 1; Template:OMIM2; ALOX12B
- Ichthyosiform erythroderma, congenital, nonbullous, 1; Template:OMIM2; ALOXE3
- Ichthyosis bullosa of Siemens; Template:OMIM2; KRT2
- Ichthyosis follicularis, atrichia, and photophobia syndrome; Template:OMIM2; MBTPS2
- Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic; Template:OMIM2; KRT1
- Ichthyosis prematurity syndrome; Template:OMIM2; SLC27A4
- Ichthyosis vulgaris; Template:OMIM2; FLG
- Ichthyosis with confetti; Template:OMIM2; KRT10
- Ichthyosis with hypotrichosis; Template:OMIM2; ST14
- Ichthyosis, congenital, autosomal recessive; Template:OMIM2; ICHYN
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis; Template:OMIM2; KRT1
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis; Template:OMIM2; KRT10
- Ichthyosis, harlequin; Template:OMIM2; ABCA12
- Ichthyosis, lamellar 2; Template:OMIM2; ABCA12
- Ichthyosis, lamellar, 3; Template:OMIM2; CYP4F22
- Ichthyosis, lamellar, autosomal recessive; Template:OMIM2; TGM1
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; Template:OMIM2; CLDN1
- Ichthyosis, x-linked; Template:OMIM2; STS
- Iminoglycinuria, digenic; Template:OMIM2; SLC36A2
- Iminoglycinuria, digenic; Template:OMIM2; SLC6A19
- Iminoglycinuria, digenic; Template:OMIM2; SLC6A20
- Immune dysfunction with T-cell inactivation due to calcium entry defect 1; Template:OMIM2; ORAI1
- Immune dysfunction, with T-cell inactivation due to calcium entry defect 2; Template:OMIM2; STIM1
- Immunodeficiency due to defect in CD3-zeta; Template:OMIM2; CD247
- Immunodeficiency due to defect in MAPBP-interacting protein; Template:OMIM2; MAPBPIP
- Immunodeficiency due to purine nucleoside phosphorylase deficiency; Template:OMIM2; PNP
- Immunodeficiency with hyper IgM, type 4; Template:OMIM2; UNG
- Immunodeficiency with hyper-IgM, type 2; Template:OMIM2; AICDA
- Immunodeficiency with hyper-IgM, type 3; Template:OMIM2; TNFRSF5
- Immunodeficiency, common variable, 1; Template:OMIM2; ICOS
- Immunodeficiency, common variable, 2; Template:OMIM2; TNFRSF13B
- Immunodeficiency, common variable, 3; Template:OMIM2; CD19
- Immunodeficiency, common variable, 4; Template:OMIM2; TNFRSF13C
- Immunodeficiency, common variable, 5; Template:OMIM2; MS4A1
- Immunodeficiency, common variable, 6; Template:OMIM2; CD81
- Immunodeficiency, hypogammaglobulinemia, and reduced B cells; Template:OMIM2; CD79B
- Immunodeficiency, isolated; Template:OMIM2; IKBKG
- Immunodeficiency, X-linked, with hyper-IgM; Template:OMIM2; TNFSF5
- Immunodeficiency–centromeric instability–facial anomalies syndrome; Template:OMIM2; DNMT3B
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; Template:OMIM2; FOXP3
- Immunoglobulin A deficiency 2; Template:OMIM2; TNFRSF13B
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; Template:OMIM2; VCP
- Inclusion body myopathy, autosomal recessive; Template:OMIM2; GNE
- Inclusion body myopathy-3; Template:OMIM2; MYH2
- Incontinentia pigmenti, type II; Template:OMIM2; IKBKG
- Infantile neuroaxonal dystrophy 1; Template:OMIM2; PLA2G6
- Inflammatory bowel disease 25; Template:OMIM2; CRFB4
- Insensitivity to pain, channelopathy-associated; Template:OMIM2; SCN9A
- Insensitivity to pain, congenital, with anhidrosis; Template:OMIM2; NTRK1
- Insomnia, fatal familial; Template:OMIM2; PRNP
- Insulin resistance, severe, digenic; Template:OMIM2; PPARG
- Insulin resistance, severe, digenic; Template:OMIM2; PPP1R3A
- Insulin-like growth factor I, resistance to; Template:OMIM2; IGF1R
- Interleukin 1 receptor antagonist deficiency; Template:OMIM2; IL1RN
- Interleukin-2 receptor, alpha chain, deficiency of; Template:OMIM2; IL2RA
- Intestinal pseudoobstruction, neuronal; Template:OMIM2; FLNA
- Intrinsic factor deficiency; Template:OMIM2; GIF
- Invasive pneumococcal disease, recurrent isolated, 1; Template:OMIM2; IRAK4
- IRAK4 deficiency; Template:OMIM2; IRAK4
- Iridogoniodysgenesis, type 1; Template:OMIM2; FOXC1
- Iridogoniodysgenesis, type 2; Template:OMIM2; PITX2
- Iris hypoplasia and glaucoma; Template:OMIM2; FOXC1
- Iron-refractory iron deficiency anemia; Template:OMIM2; TMPRSS6
- Isobutyryl-coenzyme A dehydrogenase deficiency; Template:OMIM2; ACAD8
- Isovaleric acidemia; Template:OMIM2; IVD
- IVIC syndrome; Template:OMIM2; SALL4
- Jackson–Weiss syndrome; Template:OMIM2; FGFR1
- Jackson–Weiss syndrome; Template:OMIM2; FGFR2
- Jalili syndrome; Template:OMIM2; CNNM4
- Jensen syndrome; Template:OMIM2; TIMM8A
- Jervell and Lange-Nielsen syndrome 2; Template:OMIM2; KCNE1
- Jervell and Lange-Nielsen syndrome; Template:OMIM2; KCNQ1
- Johanson–Blizzard syndrome; Template:OMIM2; UBR1
- Joubert syndrome 1; Template:OMIM2; INPP5E
- Joubert syndrome 10; Template:OMIM2; OFD1
- Joubert syndrome 2; Template:OMIM2; TMEM216
- Joubert syndrome 4; Template:OMIM2; NPHP1
- Joubert syndrome 5; Template:OMIM2; CEP290
- Joubert syndrome 6; Template:OMIM2; TMEM67
- Joubert syndrome 7; Template:OMIM2; RPGRIP1L
- Joubert syndrome 8; Template:OMIM2; ARL13B
- Joubert syndrome 9; Template:OMIM2; CC2D2A
- Joubert syndrome-3; Template:OMIM2; AHI1
- Juvenile polyposis syndrome, infantile form; Template:OMIM2; BMPR1A
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Template:OMIM2; MADH4
- Kallmann syndrome 2; Template:OMIM2; FGFR1
- Kallmann syndrome 3; Template:OMIM2; PROKR2
- Kallmann syndrome 4; Template:OMIM2; PROK2
- Kallmann syndrome 5; Template:OMIM2; CHD7
- Kallmann syndrome 6; Template:OMIM2; FGF8
- Kanzaki disease; Template:OMIM2; NAGA
- Karak syndrome; Template:OMIM2; PLA2G6
- Kenny–Caffey syndrome-1; Template:OMIM2; TBCE
- Keratitis; Template:OMIM2; PAX6
- Keratitis-ichthyosis-deafness syndrome; Template:OMIM2; GJB2
- Keratoconus; Template:OMIM2; VSX1
- Keratoderma, palmoplantar, with deafness; Template:OMIM2; GJB2
- Keratosis follicularis spinulosa decalvans; Template:OMIM2; SAT1
- Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; Template:OMIM2; POMP
- Keratosis palmoplantaris striata I; Template:OMIM2; DSG1
- Keratosis palmoplantaris striata II; Template:OMIM2; DSP
- Keratosis palmoplantaris striata III; Template:OMIM2; KRT1
- Keratosis, seborrheic, somatic; Template:OMIM2; PIK3CA
- Keutel syndrome; Template:OMIM2; MGP
- Kindler syndrome; Template:OMIM2; KIND1
- Kleefstra syndrome; Template:OMIM2; EHMT1
- Klippel–Feil syndrome, autosomal dominant; Template:OMIM2; GDF6
- Kniest dysplasia; Template:OMIM2; COL2A1
- Knobloch syndrome, type 1; Template:OMIM2; COL18A1
- Kowarski syndrome; Template:OMIM2; GH1
- Krabbe disease; Template:OMIM2; GALC
- Krabbe disease, atypical; Template:OMIM2; PSAP
- L-2-hydroxyglutaric aciduria; Template:OMIM2; L2HGDH
- Lactase deficiency, congenital; Template:OMIM2; LCT
- Lactase persistence/nonpersistence; Template:OMIM2; MCM6
- Lactic acidosis, fatal infantile; Template:OMIM2; SUCLG1
- Lacticacidemia due to PDX1 deficiency; Template:OMIM2; PDX1
- LADD syndrome; Template:OMIM2; FGF10
- LADD syndrome; Template:OMIM2; FGFR3
- Laing distal myopathy; Template:OMIM2; MYH7
- Langer mesomelic dysplasia; Template:OMIM2; SHOX
- Langer mesomelic dysplasia; Template:OMIM2; SHOXY
- Laron dwarfism; Template:OMIM2; GHR
- Larsen syndrome; Template:OMIM2; FLNB
- Laryngoonychocutaneous syndrome; Template:OMIM2; LAMA3
- Lathosterolosis; Template:OMIM2; SC5DL
- LCHAD deficiency; Template:OMIM2; HADHA
- Leber congenital amaurosis 1; Template:OMIM2; GUCY2D
- Leber congenital amaurosis 10; Template:OMIM2; CEP290
- Leber congenital amaurosis 12; Template:OMIM2; RD3
- Leber congenital amaurosis 13; Template:OMIM2; RDH12
- Leber congenital amaurosis 14; Template:OMIM2; LRAT
- Leber congenital amaurosis 2; Template:OMIM2; RPE65
- Leber congenital amaurosis 3; Template:OMIM2; SPATA7
- Leber congenital amaurosis 4; Template:OMIM2; AIPL1
- Leber congenital amaurosis 5; Template:OMIM2; LCA5
- Left ventricular noncompaction 1, with or without congenital heart defects; Template:OMIM2; DTNA
- Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Template:OMIM2; LDB3
- Left ventricular noncompaction 4; Template:OMIM2; ACTC1
- Left ventricular noncompaction 5; Template:OMIM2; MYH7
- Left ventricular noncompaction 6; Template:OMIM2; TNNT2
- Left ventricular noncompaction, X-linked; Template:OMIM2; TAZ
- Legius syndrome; Template:OMIM2; SPRED1
- Leigh syndrome due to cytochrome c oxidase deficiency; Template:OMIM2; COX15
- Leigh syndrome due to mitochondrial complex I deficiency; Template:OMIM2; C8orf38
- Leigh syndrome due to mitochondrial complex I deficiency; Template:OMIM2; NDUFA2
- Leigh syndrome; Template:OMIM2; BCS1L
- Leigh syndrome; Template:OMIM2; DLD
- Leigh syndrome; Template:OMIM2; NDUFS3
- Leigh syndrome; Template:OMIM2; NDUFS4
- Leigh syndrome; Template:OMIM2; NDUFS7
- Leigh syndrome; Template:OMIM2; NDUFS8
- Leigh syndrome; Template:OMIM2; NDUFV1
- Leigh syndrome; Template:OMIM2; SDHA
- Leigh syndrome, due to COX deficiency; Template:OMIM2; SURF1
- Leigh syndrome, French-Canadian type; Template:OMIM2; LRPPRC
- Leigh syndrome, X-linked; Template:OMIM2; PDHA1
- Leiomyomatosis and renal cell cancer; Template:OMIM2; FH
- Leiomyomatosis, diffuse, with Alport syndrome; Template:OMIM2; COL4A6
- LEOPARD syndrome 2; Template:OMIM2; RAF1
- Leopard syndrome; Template:OMIM2; PTPN11
- Leprechaunism; Template:OMIM2; INSR
- Léri–Weill dyschondrosteosis; Template:OMIM2; SHOX
- Leri-Weill dyschondrosteosis; Template:OMIM2; SHOXY
- Lesch–Nyhan syndrome; Template:OMIM2; HPRT1
- Lethal congenital contractural syndrome 2; Template:OMIM2; ERBB3
- Lethal congenital contractural syndrome 3; Template:OMIM2; PIP5K1C
- Lethal congenital contracture syndrome 1; Template:OMIM2; GLE1
- Leukemia, acute lymphocytic; Template:OMIM2; BCR
- Leukemia, acute myelogenous; Template:OMIM2; AMLCR2
- Leukemia, acute myelogenous; Template:OMIM2; GMPS
- Leukemia, acute myelogenous; Template:OMIM2; JAK2
- Leukemia, acute myeloid; Template:OMIM2; MLF1
- Leukemia, acute myeloid; Template:OMIM2; NSD1
- Leukemia, acute myeloid; Template:OMIM2; SH3GL1
- Leukemia, acute myeloid; Template:OMIM2; AF10
- Leukemia, acute myeloid; Template:OMIM2; ARHGEF12
- Leukemia, acute myeloid; Template:OMIM2; CEBPA
- Leukemia, acute myeloid; Template:OMIM2; FLT3
- Leukemia, acute myeloid; Template:OMIM2; KIT
- Leukemia, acute myeloid; Template:OMIM2; LPP
- Leukemia, acute myeloid; Template:OMIM2; NPM1
- Leukemia, acute myeloid; Template:OMIM2; NUP214
- Leukemia, acute myeloid; Template:OMIM2; PICALM
- Leukemia, acute myeloid; Template:OMIM2; RUNX1
- Leukemia, acute myeloid; Template:OMIM2; WHSC1L1
- Leukemia, acute myeloid, somatic; Template:OMIM2; ETV6
- Leukemia, acute promyelocytic; Template:OMIM2; RARA
- Leukemia, chronic myeloid; Template:OMIM2; BCR
- Leukemia, juvenile myelomonocytic; Template:OMIM2; ARHGAP26
- Leukemia, juvenile myelomonocytic; Template:OMIM2; NF1
- Leukemia, juvenile myelomonocytic; Template:OMIM2; PTPN11
- Leukemia, megakaryoblastic, of Down syndrome; Template:OMIM2; GATA1
- Leukemia, megakaryoblastic, with or without Down syndrome; Template:OMIM2; GATA1
- Leukocyte adhesion deficiency; Template:OMIM2; ITGB2
- Leukocyte adhesion deficiency, type III; Template:OMIM2; KIND3
- Leukodystrophy, adult-onset, autosomal dominant; Template:OMIM2; LMNB1
- Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; Template:OMIM2; FA2H
- Leukodystrophy, hypomyelinating, 2; Template:OMIM2; GJC2
- Leukodystrophy, hypomyelinating, 4; Template:OMIM2; HSPD1
- Leukodystrophy, hypomyelinating, 5; Template:OMIM2; FAM126A
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Template:OMIM2; DARS2
- Leukoencephalopathy with vanishing white matter; Template:OMIM2; EIF2B1
- Leukoencephalopathy with vanishing white matter; Template:OMIM2; EIF2B2
- Leukoencephalopathy with vanishing white matter; Template:OMIM2; EIF2B3
- Leukoencephalopathy with vanishing white matter; Template:OMIM2; EIF2B5
- Leukoencephalopathy, cystic, without megalencephaly; Template:OMIM2; RNASET2
- Leukoencephaly with vanishing white matter; Template:OMIM2; EIF2B4
- Leydig cell adenoma, somatic, with precocious puberty; Template:OMIM2; LHCGR
- Leydig cell hypoplasia with hypergonadotropic hypogonadism; Template:OMIM2; LHCGR
- Leydig cell hypoplasia with pseudohermaphroditism; Template:OMIM2; LHCGR
- Lhermitte–Duclos syndrome; Template:OMIM2; PTEN
- Liddle syndrome; Template:OMIM2; SCNN1B
- Liddle syndrome; Template:OMIM2; SCNN1G
- Li–Fraumeni syndrome; Template:OMIM2; CDKN2A
- Li–Fraumeni syndrome; Template:OMIM2; TP53
- Li–Fraumeni syndrome; Template:OMIM2; CHEK2
- Li–Fraumeni-like syndrome; Template:OMIM2; TP53
- LIG4 syndrome; Template:OMIM2; LIG4
- Limb-mammary syndrome; Template:OMIM2; TP63
- Lipase deficiency, combined; Template:OMIM2; LMF1
- Lipodystrophy, congenital generalized, type 1; Template:OMIM2; AGPAT2
- Lipodystrophy, congenital generalized, type 2; Template:OMIM2; BSCL2
- Lipodystrophy, congenital generalized, type 3; Template:OMIM2; CAV1
- Lipodystrophy, congenital generalized, type 4; Template:OMIM2; PTRF
- Lipodystrophy, familial partial; Template:OMIM2; LMNA
- Lipodystrophy, familial partial, type 3; Template:OMIM2; PPARG
- Lipodystrophy, partial, acquired; Template:OMIM2; LMNB2
- Lipoid adrenal hyperplasia; Template:OMIM2; STAR
- Lipoid congenital adrenal hyperplasia; Template:OMIM2; CYP11A
- Lipoid proteinosis; Template:OMIM2; ECM1
- Lipoprotein glomerulopathy; Template:OMIM2; APOE
- Lipoprotein lipase deficiency; Template:OMIM2; LPL
- Lissencephaly 3; Template:OMIM2; TUBA1A
- Lissencephaly syndrome, Norman-Roberts type; Template:OMIM2; RELN
- Lissencephaly, X-linked 2; Template:OMIM2; ARX
- Lissencephaly, X-linked; Template:OMIM2; DCX
- Lissencephaly-1; Template:OMIM2; PAFAH1B1
- Liver failure, acute infantile; Template:OMIM2; TRMU
- Loeys–Dietz syndrome, type 1A; Template:OMIM2; TGFBR1
- Loeys–Dietz syndrome, type 1B; Template:OMIM2; TGFBR2
- Loeys–Dietz syndrome, type 2A; Template:OMIM2; TGFBR1
- Loeys–Dietz syndrome, type 2B; Template:OMIM2; TGFBR2
- Long QT syndrome 12; Template:OMIM2; SNT1
- Long QT syndrome 13; Template:OMIM2; KCNJ5
- Long QT syndrome-1; Template:OMIM2; KCNQ1
- Long QT syndrome-10; Template:OMIM2; SCN4B
- Long QT syndrome-11; Template:OMIM2; AKAP9
- Long QT syndrome-3; Template:OMIM2; SCN5A
- Long QT syndrome-4; Template:OMIM2; ANK2
- Long QT syndrome-7; Template:OMIM2; KCNJ2
- Long QT syndrome-9; Template:OMIM2; CAV3
- Lowe syndrome; Template:OMIM2; OCRL
- Lujan-Fryns syndrome; Template:OMIM2; MED12
- Lung cancer; Template:OMIM2; DLEC1
- Lung cancer; Template:OMIM2; RASSF1
- Lung cancer; Template:OMIM2; KRAS
- Lung cancer; Template:OMIM2; PPP2R1B
- Lung cancer; Template:OMIM2; SLC22A1L
- Lung cancer, somatic; Template:OMIM2; MAP3K8
- Luteinizing hormone resistance, female; Template:OMIM2; LHCGR
- Lymphangioleiomyomatosis; Template:OMIM2; TSC1
- Lymphangioleiomyomatosis, somatic; Template:OMIM2; TSC2
- Lymphedema, hereditary I; Template:OMIM2; FLT4
- Lymphedema, hereditary, IC; Template:OMIM2; GJC2
- Lymphedema–distichiasis syndrome with renal disease and diabetes mellitus; Template:OMIM2; FOXC2
- Lymphedema–distichiasis syndrome; Template:OMIM2; FOXC2
- Lymphoma, non-Hodgkin; Template:OMIM2; PRF1
- Lymphoma, non-Hodgkin, somatic; Template:OMIM2; RAD54L
- Lymphoproliferative syndrome, EBV-associated, autosomal, 1; Template:OMIM2; ITK
- Lymphoproliferative syndrome, X-linked, 2; Template:OMIM2; BIRC4
- Lymphoproliferative syndrome, X-linked; Template:OMIM2; SH2D1A
- Lysinuric protein intolerance; Template:OMIM2; SLC7A7
- Lysosomal acid phosphatase deficiency; Template:OMIM2; ACP2
- Lysyl hydroxylase 3 deficiency; Template:OMIM2; PLOD3
- Machado–Joseph disease; Template:OMIM2; ATXN3
- Macrocephaly, alopecia, cutis laxa, and scoliosis; Template:OMIM2; RIN2
- Macrocephaly/autism syndrome; Template:OMIM2; PTEN
- Macrocytic anemia, refractory, due to 5q deletion, somatic; Template:OMIM2; RPS14
- Macrothrombocytopenia and progressive sensorineural deafness; Template:OMIM2; MYH9
- Macrothrombocytopenia; Template:OMIM2; GATA1
- Macrothrombocytopenia, autosomal dominant, TUBB1-related; Template:OMIM2; TUBB1
- Macular corneal dystrophy; Template:OMIM2; CHST6
- Macular degeneration, age-related, 11; Template:OMIM2; CST3
- Macular degeneration, age-related, 2; Template:OMIM2; ABCA4
- Macular degeneration, age-related, 3; Template:OMIM2; FBLN5
- Macular degeneration juvenile; Template:OMIM2; CNGB3
- Macular dystrophy, autosomal dominant, chromosome 6-linked; Template:OMIM2; ELOVL4
- Macular dystrophy, patterned; Template:OMIM2; PRPH2
- Macular dystrophy, retinal, 2; Template:OMIM2; PROM1
- Macular dystrophy, vitelliform; Template:OMIM2; PRPH2
- Majeed syndrome; Template:OMIM2; LPIN2
- Major depressive disorder 1; Template:OMIM2; MDD1
- Major depressive disorder 2; Template:OMIM2; MDD2
- Male infertility with large-headed, multiflagellar, polyploid spermatozoa; Template:OMIM2; STK13
- Male infertility, nonsyndromic, autosomal recessive; Template:OMIM2; CATSPER1
- Malonyl-CoA decarboxylase deficiency; Template:OMIM2; MLYCD
- Mandibuloacral dysplasia with type B lipodystrophy; Template:OMIM2; ZMPSTE24
- Mandibuloacral dysplasia; Template:OMIM2; LMNA
- Mannosidosis, alpha-, types I and II; Template:OMIM2; MAN2B1
- Mannosidosis, beta; Template:OMIM2; MANBA
- Maple syrup urine disease, type Ia; Template:OMIM2; BCKDHA
- Maple syrup urine disease, type Ib; Template:OMIM2; BCKDHB
- Maple syrup urine disease, type II; Template:OMIM2; DBT
- Maple syrup urine disease, type III; Template:OMIM2; DLD
- Marfan syndrome; Template:OMIM2; FBN1
- Marinesco-Sjogren syndrome; Template:OMIM2; SIL1
- Maroteaux-Lamy syndrome, several forms; Template:OMIM2; ARSB
- Marshall syndrome; Template:OMIM2; COL11A1
- Martsolf syndrome; Template:OMIM2; RAB3GAP2
- MASA syndrome; Template:OMIM2; L1CAM
- MASS syndrome; Template:OMIM2; FBN1
- Mast syndrome; Template:OMIM2; ACP33
- Maturity-onset diabetes of the young 6; Template:OMIM2; NEUROD1
- Maturity-onset diabetes of the young, type 10; Template:OMIM2; INS
- Maturity-onset diabetes of the young, type 11; Template:OMIM2; BLK
- Maturity-onset diabetes of the young, type IX; Template:OMIM2; PAX4
- Maturity-onset diabetes of the young, type VII; Template:OMIM2; KLF11
- Maturity-onset diabetes of the young, type VIII; Template:OMIM2; CEL
- May-Hegglin anomaly; Template:OMIM2; MYH9
- McArdle disease; Template:OMIM2; PYGM
- McCune-Albright syndrome; Template:OMIM2; GNAS
- McKusick-Kaufman syndrome; Template:OMIM2; MKKS
- Meacham syndrome; Template:OMIM2; WT1
- Meckel syndrome 7; Template:OMIM2; NPHP3
- Meckel syndrome type 4; Template:OMIM2; CEP290
- Meckel syndrome, type 1; Template:OMIM2; MKS1
- Meckel syndrome, type 3; Template:OMIM2; TMEM67
- Meckel syndrome, type 5; Template:OMIM2; RPGRIP1L
- Meckel syndrome, type 6; Template:OMIM2; CC2D2A
- Medullary cystic kidney disease 2; Template:OMIM2; UMOD
- Medullary thyroid carcinoma; Template:OMIM2; RET
- Medullary thyroid carcinoma, familial; Template:OMIM2; NTRK1
- Medulloblastoma; Template:OMIM2; PTCH2
- Medulloblastoma, desmoplastic; Template:OMIM2; SUFU
- Meesmann corneal dystrophy; Template:OMIM2; KRT12
- Meesmann corneal dystrophy; Template:OMIM2; KRT3
- Megalencephalic leukoencephalopathy with subcortical cysts; Template:OMIM2; MLC1
- Megaloblastic anemia-1, Finnish type; Template:OMIM2; CUBN
- Megaloblastic anemia-1, Norwegian type; Template:OMIM2; AMN
- Melanoma and neural system tumor syndrome; Template:OMIM2; CDKN2A
- Melanoma; Template:OMIM2; CDK4
- Melanoma, cutaneous malignant, 2; Template:OMIM2; CDKN2A
- Meleda disease; Template:OMIM2; SLURP1
- Melnick–Needles syndrome; Template:OMIM2; FLNA
- Melorheostosis with osteopoikilosis; Template:OMIM2; LEMD3
- Membranoproliferative glomerulonephritis with CFH deficiency; Template:OMIM2; HF1
- Meningioma; Template:OMIM2; MN1
- Meningioma, NF2-related, somatic; Template:OMIM2; NF2
- Menkes disease; Template:OMIM2; ATP7A
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Template:OMIM2; CASK
- Mental retardation in cri-du-chat syndrome; Template:OMIM2; CTNND2
- Mental retardation syndrome, X-linked, Cabezas type; Template:OMIM2; CUL4B
- Mental retardation syndrome, X-linked, Siderius type; Template:OMIM2; PHF8
- Mental retardation, autosomal dominant 1; Template:OMIM2; MBD5
- Mental retardation, autosomal dominant 3; Template:OMIM2; CDH15
- Mental retardation, autosomal dominant 4; Template:OMIM2; KIRREL3
- Mental retardation, autosomal dominant 5; Template:OMIM2; SYNGAP
- Mental retardation, autosomal recessive 1; Template:OMIM2; PRSS12
- Mental retardation, autosomal recessive 13; Template:OMIM2; TRAPPC9
- Mental retardation, autosomal recessive 2A; Template:OMIM2; CRBN
- Mental retardation, autosomal recessive 3; Template:OMIM2; CC2D1A
- Mental retardation, autosomal recessive 7; Template:OMIM2; TUSC3
- Mental retardation, autosomal recessive, 6; Template:OMIM2; GRIK2
- Mental retardation, FRA12A type; Template:OMIM2; DIP2B
- Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; Template:OMIM2; PYCS
- Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; Template:OMIM2; MEF2C
- Mental retardation, truncal obesity, retinal dystrophy, and micropenis; Template:OMIM2; INPP5E
- Mental retardation, X-linked 1; Template:OMIM2; IQSEC2
- Mental retardation, X-linked 17/31, microduplication; Template:OMIM2; HSD17B10
- Mental retardation, X-linked 30; Template:OMIM2; PAK3
- Mental retardation, X-linked 36/43/54; Template:OMIM2; ARX
- Mental retardation, X-linked 45; Template:OMIM2; ZNF81
- Mental retardation, X-linked 58; Template:OMIM2; TM4SF2
- Mental retardation, X-linked 59; Template:OMIM2; AP1S2
- Mental retardation, X-linked 93; Template:OMIM2; BRWD3
- Mental retardation, X-linked 94; Template:OMIM2; GRIA3
- Mental retardation, X-linked 95; Template:OMIM2; MAGT1
- Mental retardation, X-linked nonspecific; Template:OMIM2; GDI1
- Mental retardation, X-linked nonspecific, 63; Template:OMIM2; ACSL4
- Mental retardation, X-linked nonspecific, type 46; Template:OMIM2; ARHGEF6
- Mental retardation, X-linked syndromic 10; Template:OMIM2; HSD17B10
- Mental retardation, X-linked syndromic, Christianson type; Template:OMIM2; SLC9A6
- Mental retardation, X-linked syndromic, Turner type; Template:OMIM2; HUWE1
- Mental retardation, X-linked, 21/34; Template:OMIM2; IL1RAPL1
- Mental retardation, X-linked; Template:OMIM2; NLGN4
- Mental retardation, X-linked, FRAXE type; Template:OMIM2; AFF2
- Mental retardation, X-linked, Lubs type; Template:OMIM2; MECP2
- Mental retardation, X-linked, Snyder-Robinson type; Template:OMIM2; SMS
- Mental retardation, X-linked, syndromic 13; Template:OMIM2; MECP2
- Mental retardation, X-linked, syndromic 14; Template:OMIM2; UPF3B
- Mental retardation, X-linked, syndromic, JARID1C-related; Template:OMIM2; KDM5C
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; Template:OMIM2; OPHN1
- Mental retardation, X-linked, with epilepsy; Template:OMIM2; ATP6AP2
- Mental retardation, X-linked, with isolated growth hormone deficiency; Template:OMIM2; SOX3
- Mental retardation, X-linked, with or without epilepsy; Template:OMIM2; SYP
- Mental retardation, X-linked, ZDHHC9-related; Template:OMIM2; ZDHHC9
- Mental retardation, X-linked-72; Template:OMIM2; RAB39B
- Mental retardation, X-linked-9; Template:OMIM2; FTSJ1
- Mental retardation, X-linked-91; Template:OMIM2; ZDHHC15
- Mental retardation-hypotonic facies syndrome, X-linked, 2; Template:OMIM2; CUL4B
- Mental retardation-hypotonic facies syndrome, X-linked; Template:OMIM2; ATRX
- Mephenytoin poor metabolizer; Template:OMIM2; CYP2C
- Metachondromatosis; Template:OMIM2; PTPN11
- Metachromatic leukodystrophy due to SAP-b deficiency; Template:OMIM2; PSAP
- Metachromatic leukodystrophy; Template:OMIM2; ARSA
- Metaphyseal anadysplasia 1; Template:OMIM2; MMP13
- Metaphyseal anadysplasia 2; Template:OMIM2; MMP9
- Metaphyseal chondrodysplasia, Murk Jansen type; Template:OMIM2; PTHR1
- Metaphyseal dysplasia without hypotrichosis; Template:OMIM2; RMRP
- Metatropic dysplasia; Template:OMIM2; TRPV4
- Methemoglobinemia, type I; Template:OMIM2; CYB5R3
- Methemoglobinemia, type II; Template:OMIM2; CYB5R3
- Methemoglobinemia, type IV; Template:OMIM2; CYB5A
- Methionine adenosyltransferase deficiency, autosomal recessive; Template:OMIM2; MAT1A
- Methylcobalamin deficiency, cblG type; Template:OMIM2; MTR
- Methylmalonic aciduria and homocystinuria, cblC type; Template:OMIM2; MMACHC
- Methylmalonic aciduria and homocystinuria, cblD type; Template:OMIM2; C2orf25
- Methylmalonic aciduria and homocystinuria, cblF type; Template:OMIM2; LMBRD1
- Methylmalonic aciduria due to transcobalamin receptor defect; Template:OMIM2; CD320
- Methylmalonic aciduria, cblD type, variant 2; Template:OMIM2; C2orf25
- Methylmalonic aciduria, vitamin B12-responsive; Template:OMIM2; MMAA
- Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; Template:OMIM2; MMAB
- Methylmalonyl-CoA epimerase deficiency; Template:OMIM2; MCEE
- Mevalonic aciduria; Template:OMIM2; MVK
- MHC class II deficiency, complementation group B; Template:OMIM2; RFXANK
- Micochondrial phosphate carrier deficiency; Template:OMIM2; SLC25A3
- Microcephalic osteodysplastic primordial dwarfism type II; Template:OMIM2; PCNT
- Microcephaly and digital abnormalities with normal intelligence; Template:OMIM2; MYCN
- Microcephaly, Amish type; Template:OMIM2; SLC25A19
- Microcephaly, autosomal recessive 1; Template:OMIM2; MCPH1
- Microcephaly, primary autosomal recessive, 2; Template:OMIM2; MCPH2
- Microcephaly, primary autosomal recessive, 3; Template:OMIM2; CDK5RAP2
- Microcephaly, primary autosomal recessive, 4; Template:OMIM2; MCPH4
- Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; Template:OMIM2; ASPM
- Microcephaly, primary autosomal recessive, 6; Template:OMIM2; CEMPJ
- Microcephaly, primary autosomal recessive, 7; Template:OMIM2; STIL
- Microcephaly, seizures, and developmental delaty; Template:OMIM2; PNKP
- Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; Template:OMIM2; BEST1
- Microphthalmia, isolated 2; Template:OMIM2; CHX10
- Microphthalmia, isolated 3; Template:OMIM2; RAX
- Microphthalmia, isolated 4; Template:OMIM2; GDF6
- Microphthalmia, isolated 5; Template:OMIM2; MFRP
- Microphthalmia, isolated, with cataract 2; Template:OMIM2; SIX6
- Microphthalmia, isolated, with cataract 4; Template:OMIM2; CRYBA4
- Microphthalmia, isolated, with coloboma 3; Template:OMIM2; CHX10
- Microphthalmia, isolated, with coloboma 5; Template:OMIM2; SHH
- Microphthalmia, syndromic 2; Template:OMIM2; BCOR
- Microphthalmia, syndromic 3; Template:OMIM2; SOX2
- Microphthalmia, syndromic 5; Template:OMIM2; OTX2
- Microphthalmia, syndromic 6; Template:OMIM2; BMP4
- Microphthalmia, syndromic 7; Template:OMIM2; HCCS
- Microphthalmia, syndromic 9; Template:OMIM2; STRA6
- Microtia, hearing impairment, and cleft palate; Template:OMIM2; HOXA2
- Microvillus inclusion disease; Template:OMIM2; MYO5B
- Migraine, familial basilar; Template:OMIM2; ATP1A2
- Migraine, familial hemiplegic, 2; Template:OMIM2; ATP1A2
- Migraine, familial hemiplegic, 3; Template:OMIM2; SCN1A
- Migraine, resistance to; Template:OMIM2; EDNRA
- Miller syndrome; Template:OMIM2; DHODH
- Minicore myopathy with external ophthalmoplegia; Template:OMIM2; RYR1
- Mirror movements, congenital; Template:OMIM2; DCC
- Mirror-image polydactyly; Template:OMIM2; MIPOL1
- Mismatch repair cancer syndrome; Template:OMIM2; MLH1
- Mismatch repair cancer syndrome; Template:OMIM2; MSH2
- Mismatch repair cancer syndrome; Template:OMIM2; MSH6
- Mismatch repair cancer syndrome; Template:OMIM2; PMS2
- Mitochondrial complex 1 deficiency; Template:OMIM2; C20orf7
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFA1
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFA11
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFAF2
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFAF3
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFAF4
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFS1
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFS2
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFS4
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFV1
- Mitochondrial complex I deficiency; Template:OMIM2; NDUFV2
- Mitochondrial complex II deficiency; Template:OMIM2; SDHAF1
- Mitochondrial complex III deficiency; Template:OMIM2; BCS1L
- Mitochondrial complex III deficiency; Template:OMIM2; UQCRB
- Mitochondrial complex III deficiency; Template:OMIM2; UQCRQ
- Mitochondrial complex IV deficiency; Template:OMIM2; FASTKD2
- Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; Template:OMIM2; SUCLA2
- Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; Template:OMIM2; RRM2B
- Mitochondrial DNA depletion syndrome, hepatocerebral form; Template:OMIM2; C10orf2
- Mitochondrial DNA depletion syndrome, hepatocerebral form; Template:OMIM2; MPV17
- Mitochondrial DNA depletion syndrome, myopathic form; Template:OMIM2; TK2
- Mitochondrial DNA-depletion syndrome, hepatocerebral form; Template:OMIM2; DGUOK
- Mitochondrial myopathy and sideroblastic anemia; Template:OMIM2; PUS1
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome; Template:OMIM2; TYMP
- Mitochondrial respiratory chain complex II deficiency; Template:OMIM2; SDHA
- Miyoshi muscular dystrophy 3; Template:OMIM2; ANO5
- Miyoshi myopathy; Template:OMIM2; DYSF
- MNGIE without leukoencephalopathy; Template:OMIM2; POLG
- MODY, type I; Template:OMIM2; HNF4A
- MODY, type II; Template:OMIM2; GCK
- MODY, type III; Template:OMIM2; HNF1A
- MODY, type IV; Template:OMIM2; IPF1
- Mohr–Tranebjærg syndrome; Template:OMIM2; TIMM8A
- Molybdenum cofactor deficiency, type A; Template:OMIM2; MOCS1
- Molybdenum cofactor deficiency, type B; Template:OMIM2; MOCS2
- Molybdenum cofactor deficiency, type C; Template:OMIM2; GPHN
- Monilethrix; Template:OMIM2; KRT81
- Monilethrix; Template:OMIM2; KRT83
- Monilethrix; Template:OMIM2; KRT86
- Mononeuropathy of the median nerve, mild; Template:OMIM2; SH3TC2
- Morning glory disc anomaly; Template:OMIM2; PAX6
- Morquio syndrome B; Template:OMIM2; GLB1
- Mosaic variegated aneuploidy syndrome; Template:OMIM2; BUB1B
- Mowat–Wilson syndrome; Template:OMIM2; ZEB2
- Muckle–Wells syndrome; Template:OMIM2; NLRP3
- Mucolipidosis II alpha/beta; Template:OMIM2; GNPTAB
- Mucolipidosis III alpha/beta; Template:OMIM2; GNPTAB
- Mucolipidosis III gamma; Template:OMIM2; GNPTAG
- Mucolipidosis IV; Template:OMIM2; MCOLN1
- Mucopolysaccharidosis Ih; Template:OMIM2; IDUA
- Mucopolysaccharidosis Ih/s; Template:OMIM2; IDUA
- Mucopolysaccharidosis Is; Template:OMIM2; IDUA
- Mucopolysaccharidosis IVA; Template:OMIM2; GALNS
- Mucopolysaccharidosis type IIID; Template:OMIM2; GNS
- Mucopolysaccharidosis type IX; Template:OMIM2; HYAL1
- Mucopolysaccharidosis VII; Template:OMIM2; GUSB
- Muenke syndrome; Template:OMIM2; FGFR3
- Muir–Torre syndrome; Template:OMIM2; MLH1
- Muir–Torre syndrome; Template:OMIM2; MSH2
- Mulibrey nanism; Template:OMIM2; TRIM37
- Mullerian aplasia and hyperandrogenism; Template:OMIM2; WNT4
- Multiple cutaneous and uterine leiomyomata; Template:OMIM2; FH
- Multiple endocrine neoplasia IIA; Template:OMIM2; RET
- Multiple endocrine neoplasia IIB; Template:OMIM2; RET
- Multiple endocrine neoplasia, type IV; Template:OMIM2; CDKN1B
- Multiple pterygium syndrome, lethal type; Template:OMIM2; CHRNA1
- Multiple pterygium syndrome, lethal type; Template:OMIM2; CHRND
- Multiple pterygium syndrome, lethal type; Template:OMIM2; CHRNG
- Multiple sulfatase deficiency; Template:OMIM2; SUMF1
- Multiple synostoses syndrome 3; Template:OMIM2; FGF9
- Muscle glycogenosis; Template:OMIM2; PHKA1
- Muscular dystrophy with epidermolysis bullosa simplex; Template:OMIM2; PLEC1
- Muscular dystrophy, congenital merosin-deficient; Template:OMIM2; LAMA2
- Muscular dystrophy, congenital, due to ITGA7 deficiency; Template:OMIM2; ITGA7
- Muscular dystrophy, congenital, due to partial LAMA2 deficiency; Template:OMIM2; LAMA2
- Muscular dystrophy, limb-girdle, type 1A; Template:OMIM2; TTID
- Muscular dystrophy, limb-girdle, type 1B; Template:OMIM2; LMNA
- Muscular dystrophy, limb-girdle, type 2A; Template:OMIM2; CAPN3
- Muscular dystrophy, limb-girdle, type 2B; Template:OMIM2; DYSF
- Muscular dystrophy, limb-girdle, type 2C; Template:OMIM2; SGCG
- Muscular dystrophy, limb-girdle, type 2D; Template:OMIM2; SGCA
- Muscular dystrophy, limb-girdle, type 2E; Template:OMIM2; SGCB
- Muscular dystrophy, limb-girdle, type 2F; Template:OMIM2; SGCD
- Muscular dystrophy, limb-girdle, type 2G; Template:OMIM2; TCAP
- Muscular dystrophy, limb-girdle, type 2H; Template:OMIM2; TRIM32
- Muscular dystrophy, limb-girdle, type 2J; Template:OMIM2; TTN
- Muscular dystrophy, limb-girdle, type 2L; Template:OMIM2; ANO5
- Muscular dystrophy, limb-girdle, type IC; Template:OMIM2; CAV3
- Muscular dystrophy, rigid spine, 1; Template:OMIM2; SEPN1
- Myasthenia, limb-girdle, familial; Template:OMIM2; AGRN
- Myasthenia, limb-girdle, familial; Template:OMIM2; DOK7
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Template:OMIM2; CHRNB1
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Template:OMIM2; CHRNE
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Template:OMIM2; MUSK
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Template:OMIM2; RAPSN
- Myasthenic syndrome, congenital, associated with episodic apnea; Template:OMIM2; CHAT
- Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; Template:OMIM2; RAPSN
- Myasthenic syndrome, fast-channel congenital; Template:OMIM2; CHRNA1
- Myasthenic syndrome, fast-channel congenital; Template:OMIM2; CHRND
- Myasthenic syndrome, fast-channel congenital; Template:OMIM2; CHRNE
- Myasthenic syndrome, slow-channel congenital; Template:OMIM2; CHRNA1
- Myasthenic syndrome, slow-channel congenital; Template:OMIM2; CHRNB1
- Myasthenic syndrome, slow-channel congenital; Template:OMIM2; CHRND
- Myasthenic syndrome, slow-channel congenital; Template:OMIM2; CHRNE
- Mycobacterial infection, atypical, familial disseminated; Template:OMIM2; IFNGR1
- Mycobacterial infection, atypical, familial disseminated; Template:OMIM2; STAT1
- Myelofibrosis, idiopathic; Template:OMIM2; JAK2
- Myeloperoxidase deficiency; Template:OMIM2; MPO
- Myeloproliferative disorder with eosinophilia; Template:OMIM2; PDGFRB
- Myoclonic epilepsy, severe, of infancy; Template:OMIM2; GABRG2
- Myoglobinuria, acute recurrent, autosomal recessive; Template:OMIM2; LPIN1
- Myokymia with neonatal epilepsy; Template:OMIM2; KCNQ2
- Myopathy due to CPT II deficiency; Template:OMIM2; CPT2
- Myopathy with lactic acidosis, hereditary; Template:OMIM2; ISCU
- Myopathy, actin, congenital, with excess of thin myofilaments; Template:OMIM2; ACTA1
- Myopathy, cardioskeletal, desmin-related, with cataract; Template:OMIM2; CRYAB
- Myopathy, centronuclear; Template:OMIM2; DNM2
- Myopathy, centronuclear; Template:OMIM2; MYF6
- Myopathy, centronuclear, autosomal recessive; Template:OMIM2; BIN1
- Myopathy, congenital, Compton-North; Template:OMIM2; CNTN1
- Myopathy, congenital, with fiber-type disproportion 1; Template:OMIM2; ACTA1
- Myopathy, desmin-related, cardioskeletal; Template:OMIM2; DES
- Myopathy, distal 2; Template:OMIM2; MATR3
- Myopathy, distal, with anterior tibial onset; Template:OMIM2; DYSF
- Myopathy, early-onset, with fatal cardiomyopathy; Template:OMIM2; TTN
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; Template:OMIM2; GFER
- Myopathy, myofibrillar, BAG3-related; Template:OMIM2; BAG3
- Myopathy, myofibrillar, filamin C-related; Template:OMIM2; FLNC
- Myopathy, myofibrillar, ZASP-related; Template:OMIM2; LDB3
- Myopathy, myosin storage; Template:OMIM2; MYH7
- Myopathy, nemaline, 3; Template:OMIM2; ACTA1
- Myopathy, proximal, with early respiratory muscle involvement; Template:OMIM2; TTN
- Myopathy, reducing body, X-linked, childhood-onset; Template:OMIM2; FHL1
- Myopathy, reducing body, X-linked, severe early-onset; Template:OMIM2; FHL1
- Myopathy, spheroid body; Template:OMIM2; TTID
- Myopathy, X-linked, with postural muscle atrophy; Template:OMIM2; FHL1
- Myosclerosis, congenital; Template:OMIM2; COL6A2
- Myotilinopathy; Template:OMIM2; TTID
- Myotonia congenita, atypical, acetazolamide-responsive; Template:OMIM2; SCN4A
- Myotonia congenita, dominant; Template:OMIM2; CLCN1
- Myotonia congenita, recessive; Template:OMIM2; CLCN1
- Myotonic dystrophy; Template:OMIM2; DMPK
- Myotonic dystrophy, type 2; Template:OMIM2; ZNF9
- Myotubular myopathy, X-linked; Template:OMIM2; MTM1
- Myxoid liposarcoma; Template:OMIM2; DDIT3
- Myxoma, intracardiac; Template:OMIM2; PRKAR1A
- N syndrome; Template:OMIM2; POLA
- N-Acetylglutamate synthase deficiency; Template:OMIM2; NAGS
- Naegeli–Franceschetti–Jadassohn syndrome; Template:OMIM2; KRT14
- Nail–patella syndrome; Template:OMIM2; LMX1B
- Nance–Horan syndrome; Template:OMIM2; NHS
- Narcolepsy 1; Template:OMIM2; HCRT
- Nasopharyngeal carcinoma; Template:OMIM2; TP53
- Nasu–Hakola disease; Template:OMIM2; TREM2
- Nasu–Hakola disease; Template:OMIM2; TYROBP
- Naxos disease; Template:OMIM2; JUP
- Nemaline myopathy 1, autosomal dominant; Template:OMIM2; TPM3
- Nemaline myopathy 2, autosomal recessive; Template:OMIM2; NEB
- Nemaline myopathy 7; Template:OMIM2; CFL2
- Nemaline myopathy; Template:OMIM2; TPM2
- Nemaline Myopathy, Amish Type; Template:OMIM2; TNNT1
- Nephrogenic syndrome of inappropriate antidiuresis; Template:OMIM2; AVPR2
- Nephrolithiasis, type I; Template:OMIM2; CLCN5
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1; Template:OMIM2; SLC34A1
- Nephrolithiasis/osteoporosis, hypophosphatemic, 2; Template:OMIM2; SLC9A3R1
- Nephronophthisis 1, juvenile; Template:OMIM2; NPHP1
- Nephronophthisis 2, infantile; Template:OMIM2; INVS
- Nephronophthisis 3; Template:OMIM2; NPHP3
- Nephronophthisis 4; Template:OMIM2; NPHP4
- Nephronophthisis 7; Template:OMIM2; GLIS2
- Nephropathy with pretibial epidermolysis bullosa and deafness; Template:OMIM2; CD151
- Nephrosis, congenital, with or without ocular abnormalities; Template:OMIM2; LAMB2
- Nephrotic syndrome, type 1; Template:OMIM2; NPHS1
- Nephrotic syndrome, type 2; Template:OMIM2; PDCN
- Nephrotic syndrome, type 3; Template:OMIM2; PLCE1
- Nephrotic syndrome, type 4; Template:OMIM2; WT1
- Netherton syndrome; Template:OMIM2; SPINK5
- Neural tube defect; Template:OMIM2; VANGL1
- Neuroblastoma; Template:OMIM2; NME1
- Neurodegeneration due to cerebral folate transport deficiency; Template:OMIM2; FOLR1
- Neurodegeneration with brain iron accumulation 1; Template:OMIM2; PANK2
- Neurodegeneration with brain iron accumulation 2B; Template:OMIM2; PLA2G6
- Neurodegeneration with brain iron accumulation 3; Template:OMIM2; FTL
- Neuroepithelioma; Template:OMIM2; EWSR1
- Neurofibromatosis, familial spinal; Template:OMIM2; NF1
- Neurofibromatosis type 1; Template:OMIM2; NF1
- Neurofibromatosis type 2; Template:OMIM2; NF2
- Neurofibromatosis-Noonan syndrome; Template:OMIM2; NF1
- Neuromuscular disease, congenital, with uniform type 1 fiber; Template:OMIM2; RYR1
- Neuronopathy, distal hereditary motor, type IIC; Template:OMIM2; HSPB3
- Neuronopathy, distal hereditary motor, type VI; Template:OMIM2; IGHMBP2
- Neuropathy, congenital hypomyelinating, 1; Template:OMIM2; EGR2
- Neuropathy, congenital hypomyelinating; Template:OMIM2; MPZ
- Neuropathy, distal hereditary motor, type IIA; Template:OMIM2; HSPB8
- Neuropathy, distal hereditary motor, type IIB; Template:OMIM2; HSPB1
- Neuropathy, distal hereditary motor, type V; Template:OMIM2; BSCL2
- Neuropathy, distal hereditary motor, type V; Template:OMIM2; GARS
- Neuropathy, distal hereditary motor, type VIIB; Template:OMIM2; DCTN1
- Neuropathy, hereditary sensory and autonomic, type 1; Template:OMIM2; SPTLC1
- Neuropathy, hereditary sensory and autonomic, type II; Template:OMIM2; WNK1
- Neuropathy, hereditary sensory and autonomic, type IIB; Template:OMIM2; FAM134B
- Neuropathy, hereditary sensory and autonomic, type V; Template:OMIM2; NGFB
- Neuropathy, hereditary sensory, with spastic paraplegia; Template:OMIM2; CCT5
- Neuropathy, hereditary sensory/autonomic, type IC; Template:OMIM2; SPTLC2
- Neuropathy, recurrent, with pressure palsies; Template:OMIM2; PMP22
- Neutral lipid storage disease with myopathy; Template:OMIM2; PNPLA2
- Neutropenia, nonimmune chronic idiopathic, of adults; Template:OMIM2; GFI1
- Neutropenia, severe congenital, autosomal dominant 1; Template:OMIM2; ELANE
- Neutropenia, severe congenital, autosomal dominant 2; Template:OMIM2; GFI1
- Neutropenia, severe congenital, autosomal recessive 3; Template:OMIM2; HAX1
- Neutropenia, severe congenital, autosomal recessive 4; Template:OMIM2; G6PC3
- Neutropenia, severe congenital, X-linked; Template:OMIM2; WAS
- Neutrophil immunodeficiency syndrome; Template:OMIM2; RAC2
- Neutrophilia, hereditary; Template:OMIM2; CSF3R
- Nevo syndrome; Template:OMIM2; PLOD
- Nevus, epidermal; Template:OMIM2; PIK3CA
- Nevus, epidermal, epidermolytic hyperkeratotic type; Template:OMIM2; KRT10
- Nevus, keratinocytic, nonepidermolytic; Template:OMIM2; FGFR3
- Newfoundland rod-cone dystrophy; Template:OMIM2; RLBP1
- Niemann–Pick disease, type A; Template:OMIM2; SMPD1
- Niemann–Pick disease, type B; Template:OMIM2; SMPD1
- Niemann–Pick disease, type C1; Template:OMIM2; NPC1
- Niemann–pick disease, type C2; Template:OMIM2; NPC2
- Niemann–Pick disease type D; Template:OMIM2; NPC1
- Night blindness, congenital stationary, autosomal dominant 2; Template:OMIM2; PDE6B
- Night blindness, congenital stationary, autosomal dominant 3; Template:OMIM2; GNAT1
- Night blindness, congenital stationary, type 1; Template:OMIM2; CSNB1
- Night blindness, congenital stationary, type 1B; Template:OMIM2; GRM6
- Night blindness, congenital stationary, type 2B; Template:OMIM2; CABP4
- Night blindness, congenital stationary, type IC; Template:OMIM2; TRPM1
- Night blindness, congenital stationary, X-linked, type 2A; Template:OMIM2; CACNA1F
- Night blindness, congenital stationary, autosomal dominant 1; Template:OMIM2; RHO
- Nijmegen breakage syndrome; Template:OMIM2; NBS1
- Nijmegen breakage syndrome-like disorder; Template:OMIM2; RAD50
- Nonaka Myopathy; Template:OMIM2; GNE
- Non-Hodgkin lymphoma, somatic; Template:OMIM2; CASP10
- Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; Template:OMIM2; EGFR
- Nonsmall cell lung cancer, somatic; Template:OMIM2; IRF1
- Nonsmall cell lung cancer, somatic; Template:OMIM2; PIK3CA
- Noonan syndrome 1; Template:OMIM2; PTPN11
- Noonan syndrome 3; Template:OMIM2; KRAS
- Noonan syndrome 4; Template:OMIM2; SOS1
- Noonan syndrome 5; Template:OMIM2; RAF1
- Noonan syndrome 6; Template:OMIM2; NRAS
- Noonan-like syndrome with loose anagen hair; Template:OMIM2; SHOC2
- Norrie disease; Template:OMIM2; NDP
- Norum disease; Template:OMIM2; LCAT
- Nystagmus 1, congenital, X-linked; Template:OMIM2; FRMD7
- Nystagmus 6, congenital, X-linked; Template:OMIM2; GPR143
- Obesity with impaired prohormone processing; Template:OMIM2; PCSK1
- Obesity, adrenal insufficiency, and red hair due to POMC deficiency; Template:OMIM2; POMC
- Obesity, autosomal dominant; Template:OMIM2; MC4R
- Obesity, mild, early-onset; Template:OMIM2; NR0B2
- Obesity, severe; Template:OMIM2; PPARG
- Obesity, severe; Template:OMIM2; SIM1
- Occipital horn syndrome; Template:OMIM2; ATP7A
- Ocular albinism, type I, Nettleship-Falls type; Template:OMIM2; GPR143
- Oculoauricular syndrome; Template:OMIM2; HMX1
- Oculocutaneous albinism, type IV; Template:OMIM2; SLC45A2
- Oculodentodigital dysplasia; Template:OMIM2; GJA1
- Oculodentodigital dysplasia, autosomal recessive; Template:OMIM2; GJA1
- Oculopharyngeal muscular dystrophy; Template:OMIM2; PABPN1
- Odontohypophosphatasia; Template:OMIM2; ALPL
- Odontoonychodermal dysplasia; Template:OMIM2; WNT10A
- Ogden syndrome; Template:OMIM2; NAA10
- Oguchi disease-1; Template:OMIM2; SAG
- Oguchi disease-2; Template:OMIM2; GRK1
- OI type II; Template:OMIM2; COL1A1
- OI type III; Template:OMIM2; COL1A1
- OI type IV; Template:OMIM2; COL1A1
- Oligodontia-colorectal cancer syndrome; Template:OMIM2; AXIN2
- Omenn syndrome; Template:OMIM2; DCLRE1C
- Omenn syndrome; Template:OMIM2; RAG1
- Omenn syndrome; Template:OMIM2; RAG2
- Omodysplasia 1; Template:OMIM2; GPC6
- Opitz G syndrome, type I; Template:OMIM2; MID1
- Opitz–Kaveggia syndrome; Template:OMIM2; MED12
- Opremazole poor metabolizer; Template:OMIM2; CYP2C
- Optic atrophy 1; Template:OMIM2; OPA1
- Optic atrophy and cataract; Template:OMIM2; OPA3
- Optic atrophy and deafness; Template:OMIM2; OPA1
- Optic atrophy-7; Template:OMIM2; TMEM126A
- Optic nerve coloboma with renal disease; Template:OMIM2; PAX2
- Optic nerve hypoplasia and abnormalities of the central nervous system; Template:OMIM2; SOX2
- Optic nerve hypoplasia; Template:OMIM2; PAX6
- Oral-facial-digital syndrome 1; Template:OMIM2; OFD1
- Ornithine transcarbamylase deficiency; Template:OMIM2; OTC
- Orofacial cleft 11; Template:OMIM2; BMP4
- Orofacial cleft 5; Template:OMIM2; MSX1
- Orofacial cleft 6; Template:OMIM2; IRF6
- Orofacial cleft 7; Template:OMIM2; HVEC
- Orofacial cleft 8; Template:OMIM2; TP63
- Orthostatic intolerance; Template:OMIM2; SLC6A2
- Osseous heteroplasia, progressive; Template:OMIM2; GNAS
- Ossification of posterior longitudinal ligament of spine; Template:OMIM2; ENPP1
- Osteoarthritis with mild chondrodysplasia; Template:OMIM2; COL2A1
- Osteochondritis dissecans, short stature, and early-onset osteoarthritis; Template:OMIM2; ACAN
- Osteogenesis imperfecta, type I; Template:OMIM2; COL1A1
- Osteogenesis imperfecta, type II; Template:OMIM2; COL1A2
- Osteogenesis imperfecta, type IIB; Template:OMIM2; CRTAP
- Osteogenesis imperfecta, type III; Template:OMIM2; COL1A2
- Osteogenesis imperfecta, type IV; Template:OMIM2; COL1A2
- Osteogenesis imperfecta, type IX; Template:OMIM2; PPIB
- Osteogenesis imperfecta, type VI; Template:OMIM2; FKBP10
- Osteogenesis imperfecta, type VII; Template:OMIM2; CRTAP
- Osteogenesis imperfecta, type VIII; Template:OMIM2; LEPRE1
- Osteoglophonic dysplasia; Template:OMIM2; FGFR1
- Osteolysis, familial expansile; Template:OMIM2; TNFRSF11A
- Osteopathia striata with cranial sclerosis; Template:OMIM2; FAM123B
- Osteopetrosis, AD type I; Template:OMIM2; LRP5
- Osteopetrosis, autosomal dominant 2; Template:OMIM2; CLCN7
- Osteopetrosis, autosomal recessive 2; Template:OMIM2; TNFSF11
- Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; Template:OMIM2; CA2
- Osteopetrosis, autosomal recessive 4; Template:OMIM2; CLCN7
- Osteopetrosis, autosomal recessive 5; Template:OMIM2; OSTM1
- Osteopetrosis, autosomal recessive 6; Template:OMIM2; PLEKHM1
- Osteopetrosis, autosomal recessive 7; Template:OMIM2; TNFRSF11A
- Osteopetrosis, recessive 1; Template:OMIM2; TCIRG1
- Osteopoikilosis; Template:OMIM2; LEMD3
- Osteoporosis, involutional; Template:OMIM2; VDR
- Osteoporosis-pseudoglioma syndrome; Template:OMIM2; LRP5
- Osteosarcoma; Template:OMIM2; LOH18CR1
- Osteosarcoma; Template:OMIM2; RB1
- Osteosarcoma; Template:OMIM2; TP53
- Osteosarcoma, somatic; Template:OMIM2; CHEK2
- Osteosclerosis; Template:OMIM2; LRP5
- Otofaciocervical syndrome; Template:OMIM2; EYA1
- Otopalatodigital syndrome, type I; Template:OMIM2; FLNA
- Otopalatodigital syndrome, type II; Template:OMIM2; FLNA
- Otospondylomegaepiphyseal dysplasia; Template:OMIM2; COL11A2
- Ovarian cancer; Template:OMIM2; CTNNB1
- Ovarian cancer, somatic; Template:OMIM2; AKT1
- Ovarian cancer, somatic; Template:OMIM2; PIK3CA
- Ovarian dysgenesis 1; Template:OMIM2; FSHR
- Ovarian dysgenesis 2; Template:OMIM2; BMP15
- Ovarian hyperstimulation syndrome; Template:OMIM2; FSHR
- Ovarian response to FSH stimulation; Template:OMIM2; FSHR
- Ovarioleukodystrophy; Template:OMIM2; EIF2B2
- Ovarioleukodystrophy; Template:OMIM2; EIF2B4
- Ovarioleukodystrophy; Template:OMIM2; EIF2B5
- Pachyonychia congenita Jackson Lawler type; Template:OMIM2; KRT17
- Pachyonychia congenita Jackson Lawler type; Template:OMIM2; KRT6B
- Pachyonychia congenita, Jadassohn-Lewandowsky type; Template:OMIM2; KRT16
- Pachyonychia congenita, Jadassohn-Lewandowsky type; Template:OMIM2; KRT6A
- Paget disease of bone; Template:OMIM2; PDB4
- Paget disease of bone; Template:OMIM2; SQSTM1
- Paget disease of bone; Template:OMIM2; TNFRSF11A
- Paget disease, juvenile; Template:OMIM2; TNFRSF11B
- Pallister–Hall syndrome; Template:OMIM2; GLI3
- Palmoplantar hyperkeratosis and true hermaphroditism; Template:OMIM2; RSPO1
- Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; Template:OMIM2; RSPO1
- Palmoplantar keratoderma, nonepidermolytic; Template:OMIM2; KRT16
- Palmoplantar keratoderma, nonepidermolytic, focal; Template:OMIM2; KRT16
- Palmoplantar verrucous nevus, unilateral; Template:OMIM2; KRT16
- Pancreatic agenesis; Template:OMIM2; IPF1
- Pancreatic cancer; Template:OMIM2; TP53
- Pancreatic cancer; Template:OMIM2; BRCA2
- Pancreatic cancer/melanoma syndrome; Template:OMIM2; CDKN2A
- Pancreatic carcinoma, somatic; Template:OMIM2; KRAS
- Pancreatitis, hereditary; Template:OMIM2; PRSS1
- Pancreatitis, hereditary; Template:OMIM2; SPINK1
- Panhypopituitarism, X-linked; Template:OMIM2; SOX3
- Papillon–Lefèvre syndrome; Template:OMIM2; CTSC
- Paraganglioma and gastric stromal sarcoma; Template:OMIM2; SDHB
- Paraganglioma and gastric stromal sarcoma; Template:OMIM2; SDHC
- Paraganglioma and gastric stromal sarcoma; Template:OMIM2; SDHD
- Paraganglioma, familial chromaffin, 4; Template:OMIM2; SDHB
- Paragangliomas 2; Template:OMIM2; SDHAF2
- Paragangliomas, familial nonchromaffin, 1, with or without deafness; Template:OMIM2; SDHD
- Paragangliomas, familial nonchromaffin, 3; Template:OMIM2; SDHC
- Paramyotonia congenita; Template:OMIM2; SCN4A
- Parathyroid adenoma with cystic changes; Template:OMIM2; HRPT2
- Parathyroid carcinoma; Template:OMIM2; HRPT2
- Parietal foramina 1; Template:OMIM2; MSX2
- Parietal foramina 2; Template:OMIM2; ALX4
- Parietal foramina with cleidocranial dysplasia; Template:OMIM2; MSX2
- Parkes Weber slndrome; Template:OMIM2; RASA1
- Parkinson disease 11; Template:OMIM2; GIGYF2
- Parkinson disease 13; Template:OMIM2; HTRA2
- Parkinson disease 15, autosomal recessive; Template:OMIM2; FBXO7
- Parkinson disease 4; Template:OMIM2; SNCA
- Parkinson disease 6, early onset; Template:OMIM2; PINK1
- Parkinson disease 7, autosomal recessive early-onset; Template:OMIM2; DJ1
- Parkinson disease 9; Template:OMIM2; ATP13A2
- Parkinson disease, juvenile, type 2; Template:OMIM2; PRKN
- Parkinson disease-8; Template:OMIM2; LRRK2
- Parkinsonism-dystonia, infantile; Template:OMIM2; SLC6A3
- Paroxysmal extreme pain disorder; Template:OMIM2; SCN9A
- Paroxysmal nocturnal hemoglobinuria, somatic; Template:OMIM2; PIGA
- Paroxysmal nonkinesigenic dyskinesia; Template:OMIM2; MR1
- Partington syndrome; Template:OMIM2; ARX
- PCWH syndrome; Template:OMIM2; SOX10
- Peeling skin syndrome, acral type; Template:OMIM2; TGM5
- Pelger–Huet anomaly; Template:OMIM2; LBR
- Pelizaeus–Merzbacher disease; Template:OMIM2; PLP1
- Pendred syndrome; Template:OMIM2; SLC26A4
- Pentosuria; Template:OMIM2; DCXR
- Periodic fever, familial; Template:OMIM2; TNFRSF1A
- Periodontitis, juvenile; Template:OMIM2; CTSC
- Periventricular heterotopia with microcephaly; Template:OMIM2; ARFGEF2
- Peroxisomal acyl-CoA oxidase deficiency; Template:OMIM2; ACOX1
- Perry syndrome; Template:OMIM2; DCTN1
- Persistent Mullerian duct syndrome, type I; Template:OMIM2; AMH
- Persistent Mullerian duct syndrome, type II; Template:OMIM2; AMHR2
- Persistent truncus arteriosus; Template:OMIM2; NKX2-6
- Peters anomaly; Template:OMIM2; CYP1B1
- Peters anomaly; Template:OMIM2; PAX6
- Peters anomaly; Template:OMIM2; PITX2
- Peters-plus syndrome; Template:OMIM2; B3GALTL; B3GTL
- Peutz–Jeghers syndrome; Template:OMIM2; STK11
- Pfeiffer syndrome; Template:OMIM2; FGFR1
- Pfeiffer syndrome; Template:OMIM2; FGFR2
- Phenylketonuria; Template:OMIM2; PAH
- Pheochromocytoma; Template:OMIM2; KIF1B
- Pheochromocytoma; Template:OMIM2; RET
- Pheochromocytoma; Template:OMIM2; SDHB
- Pheochromocytoma; Template:OMIM2; SDHD
- Pheochromocytoma; Template:OMIM2; VHL
- Phosphoglycerate dehydrogenase deficiency; Template:OMIM2; PHGDH
- Phosphoglycerate kinase 1 deficiency; Template:OMIM2; PGK1
- Phosphoribosylpyrophosphate synthetase superactivity; Template:OMIM2; PRPS1
- Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; Template:OMIM2; PHKB
- Phosphoserine aminotransferase deficiency; Template:OMIM2; PSAT1
- Pick disease; Template:OMIM2; MAPT
- Pick disease; Template:OMIM2; PSEN1
- Piebaldism; Template:OMIM2; SNAI2
- Pierson syndrome; Template:OMIM2; LAMB2
- Pigmented adrenocortical disease, primary, 1; Template:OMIM2; PRKAR1A
- Pigmented nodular adrenocortical disease, primary, 2; Template:OMIM2; PDE11A
- Pigmented paravenous chorioretinal atrophy; Template:OMIM2; CRB1
- Pilomatricoma; Template:OMIM2; CTNNB1
- Pitt–Hopkins-like syndrome 1; Template:OMIM2; CNTNAP2
- Pitt–Hopkins syndrome; Template:OMIM2; TCF4
- Pituitary adenoma, ACTH-secreting; Template:OMIM2; AIP
- Pituitary adenoma, growth hormone-secreting; Template:OMIM2; AIP
- Pituitary adenoma, prolactin-secreting; Template:OMIM2; AIP
- Pituitary hormone deficiency, combined, 1; Template:OMIM2; POU1F1
- Pituitary hormone deficiency, combined, 2; Template:OMIM2; PROP1
- Pituitary hormone deficiency, combined, 3; Template:OMIM2; LHX3
- Pituitary hormone deficiency, combined, 4; Template:OMIM2; LHX4
- Pituitary hormone deficiency, combined, 5; Template:OMIM2; HESX1
- Plamoplantar keratoderma, epidermolytic; Template:OMIM2; KRT1
- Plasminogen activator inhibitor, type I; Template:OMIM2; PAI1
- Platelet disorder, familial, with associated myeloid malignancy; Template:OMIM2; RUNX1
- Platelet glycoprotein IV deficiency; Template:OMIM2; CD36
- Pleuropulmonary blastoma; Template:OMIM2; DICER1
- Pneumothorax, primary spontaneous; Template:OMIM2; FLCN
- Poikiloderma with neutropenia; Template:OMIM2; C16orf57
- Polycystic kidney and hepatic disease; Template:OMIM2; FCYT
- Polycystic kidney disease 2; Template:OMIM2; PKD2
- Polycystic kidney disease, adult type I; Template:OMIM2; PKD1
- Polycystic liver disease; Template:OMIM2; PRKCSH
- Polycystic liver disease; Template:OMIM2; SEC63
- Polycystic ovary syndrome; Template:OMIM2; FST
- Polycythemia vera; Template:OMIM2; JAK2
- Polycythemia, benign familial; Template:OMIM2; VHL
- Polydactyly, postaxial, types A1 and B; Template:OMIM2; GLI3
- Polydactyly, preaxial type II; Template:OMIM2; LMBR1
- Polydactyly, preaxial, type IV; Template:OMIM2; GLI3
- Polyhydramnios, megalencephaly, and symptomatic epilepsy; Template:OMIM2; STRADA
- Polymicrogyria with optic nerve hypoplasia; Template:OMIM2; TUBA8
- Polymicrogyria, asymmetric; Template:OMIM2; TUBB2B
- Polymicrogyria, bilateral frontoparietal; Template:OMIM2; GPR56
- Polyposis syndrome, hereditary mixed, 2; Template:OMIM2; BMPR1A
- Polyposis, juvenile intestinal; Template:OMIM2; BMPR1A
- Polyposis, juvenile intestinal; Template:OMIM2; MADH4
- Pontocerebellar hypoplasia type 1; Template:OMIM2; VRK1
- Pontocerebellar hypoplasia type 2A; Template:OMIM2; TSEN54
- Pontocerebellar hypoplasia type 2B; Template:OMIM2; TSEN2
- Pontocerebellar hypoplasia type 2C; Template:OMIM2; TSEN34
- Pontocerebellar hypoplasia type 4; Template:OMIM2; TSEN54
- Pontocerebellar hypoplasia, type 6; Template:OMIM2; RARS2
- Popliteal pterygium syndrome; Template:OMIM2; IRF6
- POR deficiency; Template:OMIM2; POR
- Porencephaly; Template:OMIM2; COL4A1
- Porokeratosis, disseminated superficial actinic, 1; Template:OMIM2; SART3
- Porphyria cutanea tarda; Template:OMIM2; UROD
- Porphyria variegata; Template:OMIM2; PPOX
- Porphyria, acute hepatic; Template:OMIM2; ALAD
- Porphyria, acute intermittent; Template:OMIM2; HMBS
- Porphyria, acute intermittent, nonerythroid variant; Template:OMIM2; HMBS
- Porphyria, congenital erythropoietic; Template:OMIM2; UROS
- Porphyria, hepatoerythropoietic; Template:OMIM2; UROD
- Prader–Willi syndrome; Template:OMIM2; NDN
- Prader–Willi syndrome; Template:OMIM2; SNRPN
- Precocious puberty, central; Template:OMIM2; KISS1R
- Precocious puberty, male; Template:OMIM2; LHCGR
- Premature chromosome condensation with microcephaly and mental retardation; Template:OMIM2; MCPH1
- Premature ovarian failure 2B; Template:OMIM2; FLJ22792
- Premature ovarian failure 3; Template:OMIM2; FOXL2
- Premature ovarian failure 4; Template:OMIM2; BMP15
- Premature ovarian failure 5; Template:OMIM2; NOBOX
- Premature ovarian failure 6; Template:OMIM2; FIGLA
- Premature ovarian failure 7; Template:OMIM2; NR5A1
- Premature ovarian failure; Template:OMIM2; DIAPH2
- Primary lateral sclerosis, juvenile; Template:OMIM2; ALS2
- Prion disease with protracted course; Template:OMIM2; PRNP
- Progesterone resistance; Template:OMIM2; PGR
- Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; Template:OMIM2; SLC25A4
- Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; Template:OMIM2; C10orf2
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; Template:OMIM2; POLG2
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; Template:OMIM2; RRM2B
- Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; Template:OMIM2; POLG
- Progressive external ophthalmoplegia, autosomal recessive; Template:OMIM2; POLG
- Progressive familial heart block, type IB; Template:OMIM2; TRPM4
- Proguanil poor metabolizer; Template:OMIM2; CYP2C
- Prolidase deficiency; Template:OMIM2; PEPD
- Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; Template:OMIM2; FLVCR2
- Properdin deficiency, X-linked; Template:OMIM2; PFC
- Propionicacidemia; Template:OMIM2; PCCA
- Propionicacidemia; Template:OMIM2; PCCB
- Prostate cancer 1, 176807; Template:OMIM2; RNASEL
- Prostate cancer; Template:OMIM2; BRCA2
- Prostate cancer, hereditary; Template:OMIM2; MSR1
- Prostate cancer, progression and metastasis of; Template:OMIM2; EPHB2
- Prostate cancer, somatic; Template:OMIM2; KLF6
- Prostate cancer, somatic; Template:OMIM2; MAD1L1
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Template:OMIM2; CLCN5
- Protoporphyria, erythropoietic, autosomal dominant; Template:OMIM2; FECH
- Protoporphyria, erythropoietic, autosomal recessive; Template:OMIM2; FECH
- Protoporphyria, erythropoietic, X-linked dominant; Template:OMIM2; ALAS2
- Proud syndrome; Template:OMIM2; ARX
- Pseudoachondroplasia; Template:OMIM2; COMP
- Pseudohermaphroditism, male, with gynecomastia; Template:OMIM2; HSD17B3
- Pseudohyperkalemia, familial; Template:OMIM2; PIEZO1
- Pseudohypoaldosteronism type I, autosomal dominant; Template:OMIM2; NR3C2
- Pseudohypoaldosteronism type II; Template:OMIM2; WNK4
- Pseudohypoaldosteronism, type I; Template:OMIM2; SCNN1A
- Pseudohypoaldosteronism, type I; Template:OMIM2; SCNN1B
- Pseudohypoaldosteronism, type I; Template:OMIM2; SCNN1G
- Pseudohypoaldosteronism, type IIC; Template:OMIM2; WNK1
- Pseudohypoparathyroidism Ia; Template:OMIM2; GNAS
- Pseudohypoparathyroidism Ib; Template:OMIM2; GNAS
- Pseudohypoparathyroidism Ic; Template:OMIM2; GNAS
- Pseudohypoparathyroidism, type IB; Template:OMIM2; GNASAS
- Pseudohypoparathyroidism, type IB; Template:OMIM2; STX16
- Pseudovaginal perineoscrotal hypospadias; Template:OMIM2; SRD5A2
- Pseudoxanthoma elasticum; Template:OMIM2; ABCC6
- Pseudoxanthoma elasticum, forme fruste; Template:OMIM2; ABCC6
- Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; Template:OMIM2; GGCX
- Ptosis, congenital; Template:OMIM2; ZFHX4
- Pulmonary alveolar microlithiasis; Template:OMIM2; SLC34A2
- Pulmonary alveolar proteinosis; Template:OMIM2; CSF2RA
- Pulmonary fibrosis, idiopathic; Template:OMIM2; SFTPA2
- Pulmonary hypertension, familial primary; Template:OMIM2; BMPR2
- Pulmonary hypertension, primary; Template:OMIM2; MADH9
- Pulmonary hypertension, primary, fenfluramine-associated; Template:OMIM2; BMPR2
- Pulmonary veno occlusive disease; Template:OMIM2; BMPR2
- Pycnodysostosis; Template:OMIM2; CTSK
- Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; Template:OMIM2; MYD88
- Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; Template:OMIM2; PSTPIP1
- Pyridoxamine 5'-phosphate oxidase deficiency; Template:OMIM2; PNPO
- Pyropoikilocytosis; Template:OMIM2; SPTA1
- Pyruvate carboxylase deficiency; Template:OMIM2; PC
- Pyruvate dehydrogenase deficiency; Template:OMIM2; PDHA1
- Pyruvate dehydrogenase E2 deficiency; Template:OMIM2; DLAT
- Pyruvate dehydrogenase phosphatase deficiency; Template:OMIM2; PDP1
- Pyruvate kinase deficiency; Template:OMIM2; PKLR
- Rabson–Mendenhall syndrome; Template:OMIM2; INSR
- Radioulnar synostosis with amegakaryocytic thrombocytopenia; Template:OMIM2; HOXA11
- Raine syndrome; Template:OMIM2; FAM20C
- RAPADILINO syndrome; Template:OMIM2; RECQL4
- Rapp–Hodgkin syndrome; Template:OMIM2; TP63
- Recombination rate QTL 1; Template:OMIM2; RNF212
- Refsum disease; Template:OMIM2; PEX7
- Refsum disease; Template:OMIM2; PHYH
- Refsum disease, infantile form; Template:OMIM2; PEX26
- Refsum disease, infantile form; Template:OMIM2; PXMP3
- Refsum disease, infantile; Template:OMIM2; PEX1
- Renal adysplasia; Template:OMIM2; UPK3A
- Renal agenesis; Template:OMIM2; RET
- Renal carcinoma, chromophobe, somatic; Template:OMIM2; FLCN
- Renal cell carcinoma; Template:OMIM2; DIRC2
- Renal cell carcinoma; Template:OMIM2; HNF1A
- Renal cell carcinoma; Template:OMIM2; RNF139
- Renal cell carcinoma, clear cell, somatic; Template:OMIM2; OGG1
- Renal cell carcinoma, papillary, 1; Template:OMIM2; PRCC
- Renal cell carcinoma, papillary, 1; Template:OMIM2; TFE3
- Renal cell carcinoma, papillary, familial and sporadic; Template:OMIM2; MET
- Renal cell carcinoma, somatic; Template:OMIM2; VHL
- Renal cysts and diabetes syndrome; Template:OMIM2; HNF1B
- Renal glucosuria; Template:OMIM2; SLC5A2
- Renal tubular acidosis with deafness; Template:OMIM2; ATP6B1
- Renal tubular acidosis, distal, AD; Template:OMIM2; SLC4A1
- Renal tubular acidosis, distal, AR; Template:OMIM2; SLC4A1
- Renal tubular acidosis, distal, autosomal recessive; Template:OMIM2; ATP6V0A4
- Renal tubular acidosis, proximal, with ocular abnormalities; Template:OMIM2; SLC4A4
- Renal tubular dysgenesis; Template:OMIM2; ACE
- Renal tubular dysgenesis; Template:OMIM2; AGT
- Renal tubular dysgenesis; Template:OMIM2; AGTR1
- Renal tubular dysgenesis; Template:OMIM2; REN
- Renal-hepatic-pancreatic dysplasia; Template:OMIM2; NPHP3
- Renpenning syndrome; Template:OMIM2; PQBP1
- Restrictive dermopathy, lethal; Template:OMIM2; ZMPSTE24
- Reticular dysgenesis; Template:OMIM2; AK2
- Retinal cone dystrophy 3; Template:OMIM2; PDE6H
- Retinal cone dystrophy 3B; Template:OMIM2; KCNV2
- Retinal cone dystrophy 4; Template:OMIM2; CACNA2D4
- Retinal degeneration, late-onset, autosomal dominant; Template:OMIM2; C1QTNF5
- Retinal dystrophy, early-onset severe; Template:OMIM2; ABCA4
- Retinal dystrophy, early-onset severe; Template:OMIM2; LRAT
- Retinitis pigmentosa 33; Template:OMIM2; SNRNP200
- Retinitis pigmentosa 51; Template:OMIM2; TTC8
- Retinitis pigmentosa 54; Template:OMIM2; C2orf71
- Retinitis pigmentosa 55; Template:OMIM2; ARL6
- Retinitis pigmentosa 58; Template:OMIM2; ZNF513
- Retinitis pigmentosa, concentric; Template:OMIM2; BEST1
- Retinitis pigmentosa, digenic; Template:OMIM2; PRPH2
- Retinitis pigmentosa, juvenile; Template:OMIM2; LRAT
- Retinitis pigmentosa, juvenile, autosomal recessive; Template:OMIM2; SPATA7
- Retinitis pigmentosa, late-onset dominant; Template:OMIM2; CRX
- Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Template:OMIM2; RPGR
- Retinitis pigmentosa-1; Template:OMIM2; RP1
- Retinitis pigmentosa-10; Template:OMIM2; IMPDH1
- Retinitis pigmentosa-11; Template:OMIM2; PRPF31
- Retinitis pigmentosa-12, autosomal recessive; Template:OMIM2; CRB1
- Retinitis pigmentosa-13; Template:OMIM2; PRPF8
- Retinitis pigmentosa-14; Template:OMIM2; TULP1
- Retinitis pigmentosa-17; Template:OMIM2; CA4
- Retinitis pigmentosa-18; Template:OMIM2; HPRP3
- Retinitis pigmentosa-19; Template:OMIM2; ABCA4
- Retinitis pigmentosa-2; Template:OMIM2; RP2
- Retinitis pigmentosa-25; Template:OMIM2; EYS
- Retinitis pigmentosa-26; Template:OMIM2; CERKL
- Retinitis pigmentosa-3; Template:OMIM2; RPGR
- Retinitis pigmentosa-30; Template:OMIM2; FSCN2
- Retinitis pigmentosa-31; Template:OMIM2; TOPORS
- Retinitis pigmentosa-35; Template:OMIM2; SEMA4A
- Retinitis pigmentosa-36; Template:OMIM2; PRCD
- Retinitis pigmentosa-37; Template:OMIM2; NR2E3
- Retinitis pigmentosa-38; Template:OMIM2; MERTK
- Retinitis pigmentosa-39; Template:OMIM2; USH2A
- Retinitis pigmentosa-41; Template:OMIM2; PROM1
- Retinitis pigmentosa-42; Template:OMIM2; KLHL7
- Retinitis pigmentosa-45; Template:OMIM2; CNGB1
- Retinitis pigmentosa-50; Template:OMIM2; BEST1
- Retinitis pigmentosa-7; Template:OMIM2; PRPH2
- Retinitis pigmentosa-9; Template:OMIM2; RP9
- Retinitis punctata albescens; Template:OMIM2; PRPH2
- Retinitis punctata albescens; Template:OMIM2; RLBP1
- Retinopathy of prematurity; Template:OMIM2; FZD4
- Rett syndrome; Template:OMIM2; MECP2
- Rett syndrome, congenital variant; Template:OMIM2; FOXG1B
- Rett syndrome, preserved speech variant; Template:OMIM2; MECP2
- Revesz syndrome; Template:OMIM2; TINF2
- Reynolds syndrome; Template:OMIM2; LBR
- Rhabdoid predisposition syndrome 1; Template:OMIM2; SMARCB1
- Rhabdoid tumor predisposition syndrome 2; Template:OMIM2; SMARCA4
- Rhabdomyosarcoma 2, alveolar; Template:OMIM2; PAX3
- Rhabdomyosarcoma 2, alveolar; Template:OMIM2; PAX7
- Rhabdomyosarcoma; Template:OMIM2; SLC22A1L
- Rhabdomyosarcoma, alveolar; Template:OMIM2; FOXO1A
- Rhizomelic chondrodysplasia punctata type 1; Template:OMIM2; PEX7
- Rhizomelic chondrodysplasia punctata type 3; Template:OMIM2; AGPS
- Ribose-5-phosphate isomerase deficiency; Template:OMIM2; RPIA
- Rickets due to defect in vitamin D 25-hydroxylation; Template:OMIM2; CYP2R1
- Rickets, vitamin D-resistant, type IIA; Template:OMIM2; VDR
- RIDDLE syndrome; Template:OMIM2; RNF168
- Rieger or Axenfeld anomalies; Template:OMIM2; FOXC1
- Ring dermoid of cornea; Template:OMIM2; PITX2
- Rippling muscle disease; Template:OMIM2; CAV3
- Rippling muscle disease-1; Template:OMIM2; RMD1
- Roberts syndrome; Template:OMIM2; ESCO2
- Robinow syndrome, autosomal recessive; Template:OMIM2; ROR2
- Rolandic epilepsy, mental retardation, and speech dyspraxia; Template:OMIM2; SRPX2
- Rothmund–Thomson syndrome; Template:OMIM2; RECQL4
- Roussy–Lévy syndrome; Template:OMIM2; MPZ
- Roussy–Lévy syndrome; Template:OMIM2; PMP22
- Rubenstein-Taybi syndrome; Template:OMIM2; CREBBP
- Rubinstein–Taybi syndrome; Template:OMIM2; EP300
- Saccharopinuria; Template:OMIM2; AASS
- Saethre–Chotzen syndrome with eyelid anomalies; Template:OMIM2; TWIST1
- Saethre–Chotzen syndrome; Template:OMIM2; FGFR2
- Saethre–Chotzen syndrome; Template:OMIM2; TWIST1
- Salla disease; Template:OMIM2; SLC17A5
- Sandhoff disease, infantile, juvenile, and adult forms; Template:OMIM2; HEXB
- Sanfilippo syndrome, type A; Template:OMIM2; SGSH
- Sanfilippo syndrome, type B; Template:OMIM2; NAGLU
- Sanfilippo syndrome, type C; Template:OMIM2; HGSNAT
- Sarcoidosis, early-onset; Template:OMIM2; NOD2
- SC phocomelia syndrome; Template:OMIM2; ESCO2
- Scapuloperoneal myopathy, X-linked dominant; Template:OMIM2; FHL1
- Scapuloperoneal spinal muscular atrophy; Template:OMIM2; TRPV4
- Scapuloperoneal syndrome, myopathic type; Template:OMIM2; MYH7
- Scapuloperoneal syndrome, neurogenic, Kaeser type; Template:OMIM2; DES
- Schimke immunoosseous dysplasia; Template:OMIM2; SMARCAL1
- Schindler disease, type I; Template:OMIM2; NAGA
- Schindler disease, type III; Template:OMIM2; NAGA
- Schinzel–Giedion midface retraction syndrome; Template:OMIM2; SETBP1
- Schizencephaly; Template:OMIM2; EMX2
- Schizophrenia; Template:OMIM2; DISC2
- Schneckenbecken dysplasia; Template:OMIM2; SLC35D1
- Schöpf–Schulz–Passarge syndrome; Template:OMIM2; WNT10A
- Schwannomatosis; Template:OMIM2; NF2
- Schwartz–Jampel syndrome, type 1; Template:OMIM2; HSPG2
- Sclerosteosis; Template:OMIM2; SOST
- Sea-blue histiocyte disease; Template:OMIM2; APOE
- Sebastian syndrome; Template:OMIM2; MYH9
- Seborrhea-like dermatitis with psoriasiform elements; Template:OMIM2; ZNF750
- Seckel syndrome 1; Template:OMIM2; ATR
- SED congenita; Template:OMIM2; COL2A1
- Segawa syndrome, recessive; Template:OMIM2; TH
- Self-healing collodion baby; Template:OMIM2; TGM1
- SEMD, Pakistani type; Template:OMIM2; PAPSS2
- Senior–Loken syndrome 4; Template:OMIM2; NPHP4
- Senior–Loken syndrome 5; Template:OMIM2; IQCB1
- Senior–Loken syndrome 6; Template:OMIM2; CEP290
- Senior–Loken syndrome-1; Template:OMIM2; NPHP1
- Sensorineural deafness with mild renal dysfunction; Template:OMIM2; BSND
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Template:OMIM2; POLG
- Septo-optic dysplasia; Template:OMIM2; HESX1
- SERKAL syndrome; Template:OMIM2; WNT4
- Sertoli cell-only syndrome; Template:OMIM2; ZNF148
- SESAME syndrome; Template:OMIM2; KCNJ10
- Severe combined immunodeficiency due to ADA deficiency; Template:OMIM2; ADA
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Template:OMIM2; NHEJ1
- Severe combined immunodeficiency, Athabascan type; Template:OMIM2; DCLRE1C
- Severe combined immunodeficiency, B cell-negative; Template:OMIM2; RAG1
- Severe combined immunodeficiency, B cell-negative; Template:OMIM2; RAG2
- Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; Template:OMIM2; CD3D
- Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; Template:OMIM2; CD3E
- Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; Template:OMIM2; PTPRC
- Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; Template:OMIM2; IL7R
- Severe combined immunodeficiency, X-linked; Template:OMIM2; IL2RG
- Short QT syndrome-1; Template:OMIM2; KCNH2
- Short QT syndrome-2; Template:OMIM2; KCNQ1
- Short QT syndrome-3; Template:OMIM2; KCNJ2
- Short rib-polydactyly syndrome, type III; Template:OMIM2; DYNC2H1
- Short stature; Template:OMIM2; GHSR
- Short stature, idiopathic familial; Template:OMIM2; SHOX
- Short stature, idiopathic familial; Template:OMIM2; SHOXY
- Short stature, idiopathic; Template:OMIM2; GHR
- Shprintzen–Goldberg syndrome; Template:OMIM2; FBN1
- Shwachman–Bodian–Diamond syndrome; Template:OMIM2; SBDS
- Sialic acid storage disorder, infantile; Template:OMIM2; SLC17A5
- Sialidosis, type I; Template:OMIM2; NEU1
- Sialidosis, type II; Template:OMIM2; NEU1
- Sialuria; Template:OMIM2; GNE
- Sick sinus syndrome 1; Template:OMIM2; SCN5A
- Sick sinus syndrome 2; Template:OMIM2; HCN4
- Sickle cell anemia; Template:OMIM2; HBB
- Silver spastic paraplegia syndrome; Template:OMIM2; BSCL2
- Silver–Russell syndrome; Template:OMIM2; H19
- Simpson-Golabi-Behmel syndrome, type 1; Template:OMIM2; GPC3
- Simpson-Golabi-Behmel syndrome, type 2; Template:OMIM2; OFD1
- Sitosterolemia; Template:OMIM2; ABCG5
- Sitosterolemia; Template:OMIM2; ABCG8
- Sjögren–Larsson syndrome; Template:OMIM2; ALDH3A2
- Skeletal defects, genital hypoplasia, and mental retardation; Template:OMIM2; ZBTB16
- Skin fragility-woolly hair syndrome; Template:OMIM2; DSP
- Skin/hair/eye pigmentation 9, dark/light hair; Template:OMIM2; ASIP
- Slowed nerve conduction velocity, AD; Template:OMIM2; ARHGEF10
- Small patella syndrome; Template:OMIM2; TBX4
- SMED, Strudwick type; Template:OMIM2; COL2A1
- Smith–Lemli–Opitz syndrome; Template:OMIM2; DHCR7
- Smith–Magenis syndrome; Template:OMIM2; RAI1
- Smith–McCort dysplasia; Template:OMIM2; DYM
- Snowflake vitreoretinal degeneration; Template:OMIM2; KCNJ13
- Solitary median maxillary central incisor; Template:OMIM2; SHH
- Somatostatin analog, resistance to; Template:OMIM2; SSTR5
- Sorsby fundus dystrophy; Template:OMIM2; TIMP3
- Sotos syndrome; Template:OMIM2; NSD1
- Spastic ataxia, Charlevoix-Saguenay type; Template:OMIM2; SACS
- Spastic paralysis, infantile onset ascending; Template:OMIM2; ALS2
- Spastic paraplegia 10; Template:OMIM2; KIF5A
- Spastic paraplegia 15; Template:OMIM2; ZFYVE26
- Spastic paraplegia 31; Template:OMIM2; REEP1
- Spastic paraplegia 33; Template:OMIM2; ZFYVE27
- Spastic paraplegia 39; Template:OMIM2; PNPLA6
- Spastic paraplegia, 44; Template:OMIM2; GJC2
- Spastic paraplegia-11; Template:OMIM2; SPG11
- Spastic paraplegia-13; Template:OMIM2; HSPD1
- Spastic paraplegia-2; Template:OMIM2; PLP1
- Spastic paraplegia-3A; Template:OMIM2; SPG3A
- Spastic paraplegia-4; Template:OMIM2; SPAST
- Spastic paraplegia-42; Template:OMIM2; SLC33A1
- Spastic paraplegia-5A; Template:OMIM2; CYP7B1
- Spastic paraplegia-6; Template:OMIM2; NIPA1
- Spastic paraplegia-7; Template:OMIM2; PGN
- Spastic paraplegia-8; Template:OMIM2; KIAA0196
- Specific granule deficiency; Template:OMIM2; CEBPE
- Speech-language disorder-1; Template:OMIM2; FOXP2
- Spherocytosis, hereditary, type 5; Template:OMIM2; EPB42
- Spherocytosis, type 1; Template:OMIM2; ANK1
- Spherocytosis, type 3; Template:OMIM2; SPTA1
- Spherocytosis, type 4; Template:OMIM2; SLC4A1
- Spinal and bulbar muscular atrophy of Kennedy; Template:OMIM2; AR
- Spinal muscular atrophy, distal, autosomal recessive, 4; Template:OMIM2; PLEKHG5
- Spinal muscular atrophy, distal, X-linked 3; Template:OMIM2; ATP7A
- Spinal muscular atrophy, late-onset, Finkel type; Template:OMIM2; VAPB
- Spinal muscular atrophy, X-linked 2, infantile; Template:OMIM2; UBE1
- Spinal muscular atrophy-1; Template:OMIM2; SMN1
- Spinal muscular atrophy-2; Template:OMIM2; SMN1
- Spinal muscular atrophy-3; Template:OMIM2; SMN1
- Spinal muscular atrophy-4; Template:OMIM2; SMN1
- Spinocerebellar ataxia 12; Template:OMIM2; PPP2R2B
- Spinocerebellar ataxia 14; Template:OMIM2; PRKCG
- Spinocerebellar ataxia 15; Template:OMIM2; ITPR1
- Spinocerebellar ataxia 17; Template:OMIM2; TBP
- Spinocerebellar ataxia 28; Template:OMIM2; AFG3L2
- Spinocerebellar ataxia 31; Template:OMIM2; BEAN
- Spinocerebellar ataxia 8; Template:OMIM2; ATXN8OS
- Spinocerebellar ataxia 8; Template:OMIM2; ATXN8
- Spinocerebellar ataxia with epilepsy; Template:OMIM2; POLG
- Spinocerebellar ataxia, autosomal recessive 5; Template:OMIM2; ZNF592
- Spinocerebellar ataxia, autosomal recessive 8; Template:OMIM2; SYNE1
- Spinocerebellar ataxia, autosomal recessive 9; Template:OMIM2; CABC1
- Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; Template:OMIM2; TDP1
- Spinocerebellar ataxia, infantile-onset; Template:OMIM2; C10orf2
- Spinocerebellar ataxia-1; Template:OMIM2; ATXN1
- Spinocerebellar ataxia-10; Template:OMIM2; ATXN10
- Spinocerebellar ataxia-11; Template:OMIM2; TTBK2
- Spinocerebellar ataxia-13; Template:OMIM2; KCNC3
- Spinocerebellar ataxia-2; Template:OMIM2; ATXN2
- Spinocerebellar ataxia-27; Template:OMIM2; FGF14
- Spinocerebellar ataxia-5; Template:OMIM2; SPTBN2
- Spinocerebellar ataxia-6; Template:OMIM2; CACNA1A
- Spinocerebellar ataxia-7; Template:OMIM2; ATXN7
- Split-hand/foot malformation 6; Template:OMIM2; WNT10B
- Split-hand/foot malformation, type 4; Template:OMIM2; TP63
- Spondylocarpotarsal synostosis syndrome; Template:OMIM2; FLNB
- Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; Template:OMIM2; SLC39A13
- Spondylocostal dysostosis, autosomal recessive 2; Template:OMIM2; MESP2
- Spondylocostal dysostosis, autosomal recessive 3; Template:OMIM2; LFNG
- Spondylocostal dysostosis, autosomal recessive, 1; Template:OMIM2; DLL3
- Spondylocostal dystostosis 4, autosomal dominant; Template:OMIM2; GDF6
- Spondyloepimetaphyseal dysplasia; Template:OMIM2; MATN3
- Spondyloepimetaphyseal dysplasia, aggrecan type; Template:OMIM2; ACAN
- Spondyloepimetaphyseal dysplasia, Missouri type; Template:OMIM2; MMP13
- Spondyloepiphyseal dysplasia tarda with progressive arthropathy; Template:OMIM2; WISP3
- Spondyloepiphyseal dysplasia tarda; Template:OMIM2; TRAPPC2
- Spondyloepiphyseal dysplasia with congenital joint dislocations; Template:OMIM2; CHST3
- Spondyloepiphyseal dysplasia, Kimberley type; Template:OMIM2; ACAN
- Spondylo-megaepiphyseal-metaphyseal dysplasia; Template:OMIM2; NKX3-2
- Spondylometaepiphyseal dysplasia, short limb-hand type; Template:OMIM2; DDR2
- Spondylometaphyseal dysplasia, Kozlowski type; Template:OMIM2; TRPV4
- Spondyloperipheral dysplasia; Template:OMIM2; COL2A1
- Squamous cell carcinoma, head and neck; Template:OMIM2; ING1
- Squamous cell carcinoma, head and neck; Template:OMIM2; TNFRSF10B
- Stapes ankylosis with broad thumb and toes; Template:OMIM2; NOG
- STAR syndrome; Template:OMIM2; FAM58A
- Stargardt disease 3; Template:OMIM2; ELOVL4
- Stargardt disease 4; Template:OMIM2; PROM1
- Stargardt disease-1; Template:OMIM2; ABCA4
- Startle disease/hyperekplexia, autosomal dominant; Template:OMIM2; GLRA1
- Steatocystoma multiplex; Template:OMIM2; KRT17
- Stickler syndrome, type I; Template:OMIM2; COL2A1
- Stickler syndrome, type II; Template:OMIM2; COL11A1
- Stickler syndrome, type III; Template:OMIM2; COL11A2
- Stiff skin syndrome; Template:OMIM2; FBN1
- Stocco dos Santos X-linked mental retardation syndrome; Template:OMIM2; SHROOM4
- Stomach cancer; Template:OMIM2; KRAS
- Stomatocytosis I; Template:OMIM2; EPB72
- Striatal degeneration, autosomal dominant; Template:OMIM2; PDE8B
- Striatonigral degeneration, infantile; Template:OMIM2; NUP62
- Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome; Template:OMIM2; LIFR
- Subcortical laminal heteropia, X-linked; Template:OMIM2; DCX
- Succinic semialdehyde dehydrogenase deficiency; Template:OMIM2; ALDH5A1
- Succinyl-CoA:3-oxoacid CoA transferase deficiency; Template:OMIM2; OXCT1
- Sucrase-isomaltase deficiency, congenital; Template:OMIM2; SI
- Sudden infant death with dysgenesis of the testes syndrome; Template:OMIM2; TSPYL1
- Sulfite oxidase deficiency; Template:OMIM2; SUOX
- Supranuclear palsy, progressive atypical; Template:OMIM2; MAPT
- Supranuclear palsy, progressive; Template:OMIM2; MAPT
- Supravalvar aortic stenosis; Template:OMIM2; ELN
- Surfactant metabolism dysfunction, pulmonary, 1; Template:OMIM2; SFTPB
- Surfactant metabolism dysfunction, pulmonary, 2; Template:OMIM2; SFTPC
- Surfactant metabolism dysfunction, pulmonary, 3; Template:OMIM2; ABCA3
- Sveinsson choreoretinal atrophy; Template:OMIM2; TEAD1
- Symphalangism, proximal; Template:OMIM2; GDF5
- Symphalangism, proximal; Template:OMIM2; NOG
- Syndactyly, type III; Template:OMIM2; GJA1
- Syndactyly, type IV; Template:OMIM2; LMBR1
- Syndactyly, type V; Template:OMIM2; HOXD13
- Synostoses syndrome, multiple, 1; Template:OMIM2; NOG
- Synpolydactyly with foot anomalies; Template:OMIM2; HOXD13
- Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses; Template:OMIM2; FBLN1
- Synpolydactyly, type II; Template:OMIM2; HOXD13
- Tangier disease; Template:OMIM2; ABCA1
- TARP syndrome; Template:OMIM2; RBM10
- Tarsal-carpal coalition syndrome; Template:OMIM2; NOG
- Tay–Sachs disease; Template:OMIM2; HEXA
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy; Template:OMIM2; FOXN1
- Testicular microlithiasis; Template:OMIM2; SLC34A2
- Testicular tumor, sporadic; Template:OMIM2; STK11
- Tetra-amelia, autosomal recessive; Template:OMIM2; WNT3
- Tetralogy of Fallot; Template:OMIM2; GDF1
- Tetralogy of Fallot; Template:OMIM2; JAG1
- Tetralogy of Fallot; Template:OMIM2; ZFPM2
- Tetrology of Fallot; Template:OMIM2; NKX2E
- Thalassemia, alpha-; Template:OMIM2; HBA2
- Thalassemia, Hispanic gamma-delta-beta; Template:OMIM2; LCRB
- Thalassemia-beta, dominant inclusion-body; Template:OMIM2; HBB
- Thalassemias, alpha-; Template:OMIM2; HBA1
- Thalassemias, beta-; Template:OMIM2; HBB
- Thanatophoric dysplasia, type I; Template:OMIM2; FGFR3
- Thiamine-responsive megaloblastic anemia syndrome; Template:OMIM2; SLC19A2
- Three M syndrome 2; Template:OMIM2; OBSL1
- Thrombocythemia, essential; Template:OMIM2; JAK2
- Thrombocythemia, essential; Template:OMIM2; MPL
- Thrombocythemia, essential; Template:OMIM2; THPO
- Thrombocytopenia 4; Template:OMIM2; CYCS
- Thrombocytopenia with beta-thalassemia, X-linked; Template:OMIM2; GATA1
- Thrombocytopenia, congenital amegakaryocytic; Template:OMIM2; MPL
- Thrombocytopenia, X-linked; Template:OMIM2; WAS
- Thrombocytopenia, X-linked, intermittent; Template:OMIM2; WAS
- Thrombocytopenia-2; Template:OMIM2; FLJ14813
- Thrombocytopenic purpura, autoimmune; Template:OMIM2; FCGR2C
- Thrombophilia due to elevated HRG; Template:OMIM2; HRG
- Thrombophilia due to heparin cofactor II deficiency; Template:OMIM2; HCF2
- Thrombophilia due to HRG deficiency; Template:OMIM2; HRG
- Thrombophilia due to protein C deficiency, autosomal dominant; Template:OMIM2; PROC
- Thrombophilia due to protein C deficiency, autosomal recessive; Template:OMIM2; PROC
- Thrombophilia due to protein S deficiency; Template:OMIM2; PROS1
- Thrombophilia, familial, due to decreased release of PLAT; Template:OMIM2; PLAT
- Thrombophilia, X-linked, due to factor IX defect; Template:OMIM2; F9
- Thrombosis, hyperhomocysteinemic; Template:OMIM2; CBS
- Thrombotic thrombocytopenic purpura, familial; Template:OMIM2; ADAMTS13
- Thryoid dyshormonogenesis 6; Template:OMIM2; DUOX2
- Thyroid carcinoma, follicular; Template:OMIM2; MINPP1
- Thyroid carcinoma, follicular; Template:OMIM2; NRAS
- Thyroid carcinoma, papillary; Template:OMIM2; GOLGA5
- Thyroid carcinoma, papillary; Template:OMIM2; NCOA4
- Thyroid carcinoma, papillary; Template:OMIM2; PCM1
- Thyroid carcinoma, papillary; Template:OMIM2; PRKAR1A
- Thyroid carcinoma, papillary; Template:OMIM2; TRIM24
- Thyroid carcinoma, papillary; Template:OMIM2; TRIM33
- Thyroid dyshormonogenesis 1; Template:OMIM2; SLC5A5
- Thyroid dyshormonogenesis 2A; Template:OMIM2; TPO
- Thyroid dyshormonogenesis 3; Template:OMIM2; TG
- Thyroid dyshormonogenesis 4; Template:OMIM2; IYD
- Thyroid dyshormonogenesis 5; Template:OMIM2; DUOXA2
- Thyroid hormone metabolism, abnormal; Template:OMIM2; SECISBP2
- Thyroid hormone resistance; Template:OMIM2; THRB
- Thyroid hormone resistance, autosomal recessive; Template:OMIM2; THRB
- Thyroid hormone resistance, selective pituitary; Template:OMIM2; THRB
- Thyroid papillary carcinoma; Template:OMIM2; CCDC6
- Tibial muscular dystrophy, tardive; Template:OMIM2; TTN
- Tietz albinism-deafness syndrome; Template:OMIM2; MITF
- Timothy syndrome; Template:OMIM2; CACNA1C
- Tn syndrome; Template:OMIM2; C1GALT1C1
- Toenail dystrophy, isolated; Template:OMIM2; COL7A1
- Tooth agenesis, selective, 1, with or without orofacial cleft; Template:OMIM2; MSX1
- Tooth agenesis, selective, 3; Template:OMIM2; PAX9
- Tooth agenesis, selective, 6; Template:OMIM2; LTBP3
- Tooth agenesis, selective, X-linked 1; Template:OMIM2; ED1
- Torg–Winchester syndrome; Template:OMIM2; MMP2
- Tourette syndrome; Template:OMIM2; SLITRK1
- Townes–Brocks branchiootorenal-like syndrome; Template:OMIM2; SALL1
- Townes–Brocks syndrome; Template:OMIM2; SALL1
- Transaldolase deficiency; Template:OMIM2; TALDO1
- Transcobalamin II deficiency; Template:OMIM2; TCN2
- Transient bullous of the newborn; Template:OMIM2; COL7A1
- Transposition of the great arteries, dextro-looped 1; Template:OMIM2; MED13L
- Treacher Collins mandibulofacial dysostosis; Template:OMIM2; TCOF1
- Trehalase deficiency; Template:OMIM2; TREH
- Trichodentoosseous syndrome; Template:OMIM2; DLX3
- Trichoepithelioma, multiple familial, 1; Template:OMIM2; CYLD1
- Trichorhinophalangeal syndrome, type I; Template:OMIM2; TRPS1
- Trichorhinophalangeal syndrome, type III; Template:OMIM2; TRPS1
- Trichothiodystrophy; Template:OMIM2; ERCC2
- Trichothiodystrophy; Template:OMIM2; ERCC3
- Trichothiodystrophy, complementation group A; Template:OMIM2; GTF2H5
- Trichothiodystrophy, nonphotosensitive 1; Template:OMIM2; C7orf11
- Trichotillomania; Template:OMIM2; SLITRK1
- Trifunctional protein deficiency; Template:OMIM2; HADHA
- Trifunctional protein deficiency; Template:OMIM2; HADHB
- Trigonocephaly; Template:OMIM2; FGFR1
- Trimethylaminuria; Template:OMIM2; FMO3
- Triphalangeal thumb, type I; Template:OMIM2; LMBR1
- Triphalangeal thumb-polysyndactyly syndrome; Template:OMIM2; LMBR1
- Trismus-pseudocamptodactyly syndrome; Template:OMIM2; MYH8
- Tropical calcific pancreatitis; Template:OMIM2; SPINK1
- Troyer syndrome; Template:OMIM2; SPG20
- Tuberous sclerosis-1; Template:OMIM2; TSC1
- Tuberous sclerosis-2; Template:OMIM2; TSC2
- Tumoral calcinosis, familial, normophosphatemic; Template:OMIM2; SAMD9
- Tumoral calcinosis, hyperphosphatemic; Template:OMIM2; KL
- Tumoral calcinosis, hyperphosphatemic, familial; Template:OMIM2; FGF23
- Tumoral calcinosis, hyperphosphatemic, familial; Template:OMIM2; GALNT3
- Tyrosine kinase 2 deficiency; Template:OMIM2; TYK2
- Tyrosinemia type II; Template:OMIM2; TAT
- Tyrosinemia type III; Template:OMIM2; HPD
- Ullrich congenital muscular dystrophy; Template:OMIM2; COL6A1
- Ullrich congenital muscular dystrophy; Template:OMIM2; COL6A2
- Ullrich congenital muscular dystrophy; Template:OMIM2; COL6A3
- Ulna and fibula, absence of, with sever limb deficiency; Template:OMIM2; WNT7A
- Ulnar–mammary syndrome; Template:OMIM2; TBX3
- Urocanase deficiency; Template:OMIM2; UROC1
- Urofacial syndrome; Template:OMIM2; HPSE2
- Usher syndrome, type 1B; Template:OMIM2; MYO7A
- Usher syndrome, type 1C; Template:OMIM2; USH1C
- Usher syndrome, type 1D; Template:OMIM2; CDH23
- Usher syndrome, type 1D/F digenic; Template:OMIM2; CDH23
- Usher syndrome, type 1D/F digenic; Template:OMIM2; PCDH15
- Usher syndrome, type 1F; Template:OMIM2; PCDH15
- Usher syndrome, type 1G; Template:OMIM2; SANS
- Usher syndrome, type 2A; Template:OMIM2; USH2A
- Usher syndrome, type 3; Template:OMIM2; CLRN1
- Usher syndrome, type IIC; Template:OMIM2; GPR98
- Usher syndrome, type IID; Template:OMIM2; WHRN
- UV-sensitive syndrome; Template:OMIM2; ERCC6
- VACTERL association; Template:OMIM2; HOXD13
- Van Buchem disease; Template:OMIM2; SOST
- van Buchem disease, type 2; Template:OMIM2; LRP5
- van der Woude syndrome; Template:OMIM2; IRF6
- Vasculopathy, retinal, with cerebral leukodystrophy; Template:OMIM2; TREX1
- VATER association with macrocephaly and ventriculomegaly; Template:OMIM2; PTEN
- Velocardiofacial syndrome; Template:OMIM2; TBX1
- Venous malformations, multiple cutaneous and mucosal; Template:OMIM2; TEK
- Ventricular fibrillation, familial, 1; Template:OMIM2; SCN5A
- Ventricular fibrillation, paroxysmal familial, 2; Template:OMIM2; DPP6
- Ventricular tachycardia, catecholaminergic polymorphic, 1; Template:OMIM2; RYR2
- Ventricular tachycardia, catecholaminergic polymorphic, 2; Template:OMIM2; CASQ2
- Ventricular tachycardia, idiopathic; Template:OMIM2; GNAI2
- Vertical talus, congenital; Template:OMIM2; HOXD10
- Vesicoureteral reflux 2; Template:OMIM2; ROBO2
- Vitamin D-dependent rickets, type I; Template:OMIM2; CYP27B1
- Vitamin K-dependent clotting factors, combined deficiency of, 2; Template:OMIM2; VKORC1
- Vitamin K-dependent coagulation defect; Template:OMIM2; GGCX
- Vitelliform macular dystrophy, adult-onset; Template:OMIM2; BEST1
- Vitreoretinochoroidopathy; Template:OMIM2; BEST1
- VLCAD deficiency; Template:OMIM2; ACADVL
- Vohwinkel syndrome with ichthyosis; Template:OMIM2; LOR
- Vohwinkel syndrome; Template:OMIM2; GJB2
- von Hippel–Lindau disease, modification of; Template:OMIM2; CCND1
- von Hippel–Lindau syndrome; Template:OMIM2; VHL
- von Willebrand disease, autosomal dominant; Template:OMIM2; VWF
- von Willebrand disease, autosomal recessive; Template:OMIM2; VWF
- von Willebrand disease, platelet-type; Template:OMIM2; GP1BA
- Waardenburg syndrome type 1; Template:OMIM2; PAX3
- Waardenburg syndrome type 2D; Template:OMIM2; SNAI2
- Waardenburg syndrome type 2E, with or without neurologic involvement; Template:OMIM2; SOX10
- Waardenburg syndrome type 3; Template:OMIM2; PAX3
- Waardenburg syndrome type 4A; Template:OMIM2; EDNRB
- Waardenburg syndrome type 4B; Template:OMIM2; EDN3
- Waardenburg syndrome type 4C; Template:OMIM2; SOX10
- Waardenburg syndrome type IIA; Template:OMIM2; MITF
- Waardenburg syndrome/albinism, digenic; Template:OMIM2; TYR
- Waardenburg syndrome/ocular albinism, digenic; Template:OMIM2; MITF
- Wagner syndrome 1; Template:OMIM2; VCAN
- Warburg micro syndrome 1; Template:OMIM2; RAB3GAP1
- Warfarin resistance; Template:OMIM2; VKORC1
- Warfarin sensitivity; Template:OMIM2; CYP2C9
- Warsaw breakage syndrome; Template:OMIM2; DDX11
- Watson syndrome; Template:OMIM2; NF1
- Weaver syndrome; Template:OMIM2; NSD1
- Weill–Marchesani syndrome, dominant; Template:OMIM2; FBN1
- Weill–Marchesani syndrome, recessive; Template:OMIM2; ADAMTS10
- Weill–Marchesani-like syndrome; Template:OMIM2; ADAMTS17
- Weissenbacher–Zweymüller syndrome; Template:OMIM2; COL11A2
- Werner syndrome; Template:OMIM2; RECQL2
- Weyers acrodental dysostosis; Template:OMIM2; EVC
- WHIM syndrome; Template:OMIM2; CXCR4
- White sponge nevus; Template:OMIM2; KRT13
- White sponge nevus; Template:OMIM2; KRT4
- Wilms' tumor 2; Template:OMIM2; H19
- Wilms' tumor; Template:OMIM2; BRCA2
- Wilms' tumor, somatic; Template:OMIM2; GPC3
- Wilms' tumor, type 1; Template:OMIM2; WT1
- Wilson's disease; Template:OMIM2; ATP7B
- Wiskott–Aldrich syndrome; Template:OMIM2; WAS
- Witkop syndrome; Template:OMIM2; MSX1
- Wolcott–Rallison syndrome; Template:OMIM2; EIF2AK3
- Wolff–Parkinson–White syndrome; Template:OMIM2; PRKAG2
- Wolfram syndrome 2; Template:OMIM2; CISD2
- Wolfram syndrome; Template:OMIM2; WFS1
- Wolfram-like syndrome, autosomal dominant; Template:OMIM2; WFS1
- Wolman disease; Template:OMIM2; LIPA
- Woodhouse–Sakati syndrome; Template:OMIM2; C2orf37
- Woolly hair, autosomal dominant; Template:OMIM2; KRT74
- Woolly hair, autosomal recessive 1; Template:OMIM2; P2RY5
- Woolly hair, autosomal recessive 2 with or without hypotrichosis; Template:OMIM2; LIPH
- Wrinkly skin syndrome; Template:OMIM2; ATP6V0A2
- Xanthinuria, type I; Template:OMIM2; XDH
- Xeroderma pigmentosum group A; Template:OMIM2; XPA
- Xeroderma pigmentosum group B; Template:OMIM2; ERCC3
- Xeroderma pigmentosum group C; Template:OMIM2; XPC
- Xeroderma pigmentosum group D; Template:OMIM2; ERCC2
- Xeroderma pigmentosum group E, DDB-negative subtype; Template:OMIM2; DDB2
- Xeroderma pigmentosum group F; Template:OMIM2; ERCC4
- Xeroderma pigmentosum group G; Template:OMIM2; ERCC5
- Xeroderma pigmentosum, variant type; Template:OMIM2; POLH
- XFE progeroid syndrome; Template:OMIM2; ERCC4
- X-inactivation, familial skewed; Template:OMIM2; XIC
- Zellweger syndrome; Template:OMIM2; PEX10
- Zellweger syndrome; Template:OMIM2; PEX13
- Zellweger syndrome; Template:OMIM2; PEX14
- Zellweger syndrome; Template:OMIM2; PEX26
- Zellweger syndrome; Template:OMIM2; PEX5
- Zellweger syndrome; Template:OMIM2; PXF
- Zellweger syndrome, complementation group G; Template:OMIM2; PEX3
- Zellweger syndrome-1; Template:OMIM2; PEX1