| Short stature, idiopathic familial. ISS |
| Hodgkin disease susceptibility, pseudoautosomal. HL |
| Leri-Weill dyschondrosteosis. LWD |
| Ichthyosis. XLI |
| Langer mesomelic dysplasia. LMD |
| Microphthalmia, dermal aplasia, and sclerocornea. LADMCA1 |
| Leukemia, acute myeloid, M2 type. CSF2RA |
| Episodic muscle weakness. EMWX |
| Chondrodysplasia punctata. CDPX1 |
| Mental retardation. XLID50 |
| Kallmann syndrome. KAL1 |
| Ocular albinism and sensorineural deafness. OASD |
| Ocular albinism, Nettsleship-Falls type. OA1 |
| Amelogenesis imperfecta. AIH3 |
| Oral-facial-digital syndrome. OFD1 |
| Charcot-Marie-Tooth disease, recessive. CMTX1 |
| Nance-Horan cataract-dental syndrome. NHS |
| Keratosis follicularis spinulosa decalvans. KFSDX |
| Heterocellular hereditary persistence of fetal hemoglobin. HBFQTL3 |
| Hypophosphatemia, hereditary. HPDR |
| Pyruvate dehydrogenase deficiency. PDHAD |
| Partington syndrome. PRTS |
| Glycogen storage disease. GSD9D |
| Retinoschisis. RS1 |
| Coffin-Lowry syndrome. CLS |
| Gonadal dysgenesis, XY female type. SRXY2 |
| Mental retardation. MRX87 |
| Mental retardation, non-dysmorphic. MRX78 |
| Spondyloepiphyseal dysplasia tarda. SEDT |
| Agammaglobulinemia, type 2. XLA |
| Paroxysmal nocturnal hemoglobinuria. PNH1 |
| Craniofrontonasal dysplasia. CFNS |
| Infantile spasm syndrome. DEE1 |
| Opitz G syndrome, type I. GBBB |
| Aicardi syndrome. AIC |
| Pigment disorder, reticulate. PDR |
| Deafness, sensorineural. DFNX1 |
| Melanoma. MAGE5 |
| Simpson-Golabi-Behmel syndrome, type 2. SGBS2 |
| Duchenne muscular dystrophy. DMD |
| Adrenal hypoplasia, congenital. AHC |
| Becker muscular dystrophy. BMD |
| Dosage-sensitive sex reversal. SRXY2 |
| Cardiomyopathy, dilated. CMD3B |
| Deafness, congenital sensorineural. DFNX3 |
| Chronic granulomatous disease. CGDX |
| Retinitis pigmentosa. RP23 |
| Snyder-Robinson mental retardation. MRXSSR |
| Wilson-Turner syndrome. WTS |
| Norrie disease. ND |
| Cone dystrophy. CORDX3 |
| Exudative vitreoretinopathy. EVRX |
| Aland blind eye disease (ocular albinism). AIED |
| Coats disease. CD |
| Optic atrophy. OAK |
| Renpenning syndrome. RENS1 |
| Night blindness, congenital stationary, type 1. CSNB1A |
| Retinitis pigmentosa, recessive. RPSRDF |
| Erythroid potentiating activity. EPA |
| Mental retardation, nonspecific and syndromic. MRX46 |
| Arthrogryposis multiplex congenita. AMCX1 |
| Dyserythropoietic anemia with thrombocytopenia. XLTDA |
| Night blindness, congenital stationary, type 2. CSNB2A |
| Chondrodysplasia punctata, dominant. CDPX2 |
| Brunner syndrome. BRNRS |
| Autoimmunity-Immunodeficiency syndrome. XLAAD |
| Wiskott-Aldrich syndrome. WAS |
| Renal cell carcinoma, papillary. RCCX1 |
| Thrombocytopenia. XLTDA |
| Faciogenital dysplasia (Aarskog-Scott syndrome). AAS |
| Dent disease. DENT1 |
| Choreoathetosis with mental retardation. MRXS10 |
| Nephrolithiasis. XRN |
| Sarcoma, synovial. SSX2 |
| Hypophosphatemia, type III. XLHR |
| Prieto syndrome. PRS |
| Proteinuria. NPHS20 |
| Spinal muscular atrophy, lethal infantile. SMAX2 |
| Anemia, sideroblastic/lymphochronic. SIDBA1 |
| Migraine, familial typical. MGR2 |
| Cerebellar ataxia. SCAX1 |
| Androgen insensitivity. AIS |
| Renal cell carcinoma, papillary. RCCX1 |
| Spinal and bulbar muscular atrophy. SMAX1 |
| Diabetes mellitus, insulin-dependent. IDDMX |
| Prostrate cancer. PCSX |
| Sutherland-Haan syndrome. PQBP1 |
| Perineal hypospadias. HYSP1 |
| Cognitive function, social. CGF1 |
| Breast cancer, male, with Reifenstein syndrome. PAIS |
| Mental retardation, nonspecific. XLID21 |
| Ectodermal dysplasia, anhidrotic. EDAID1 |
| Menkes disease. MNK |
| Alpha-thalassemia/mental retardation. ATRX |
| Occipital horn disease. OHS |
| Juberg-Marsidi syndrome. JMS |
| Cutis laxa, neonatal. OHS |
| Sutherland-Haan syndrome. PQBP1 |
| FG syndrome. FGS4 |
| Smith-Fineman-Myers syndrome. SFM1 |
| Immunodeficiency, moderate and severe. IMD74 |
| Hemolytic anemia. HACXL |
| Miles-Carpenter syndrome. MCS |
| Myoglobinuria Hemolysis. PNH1 |
| Charcot-Marie-Tooth neuropathy, dominant. CMTX1 |
| Wieacker-Wolff syndrome. WRWF |
| Mental retardation. XLID29 |
| Torsion dystonia-Parkinsonism, Filipino type. DYT3 |
| X-inactivation center. XIST |
| Leukemia, myeloid/lymphoid or mixed-lineage. FOXO4 |
| Premature ovarian failure. POF1 |
| Anemia, sideroblastic, with ataxia. ASAT |
| Arts syndrome. ARTS |
| Allan-Herndon syndrome. AHDS |
| Cleft palate and/or ankyloglossia. CPX |
| Deafness. DFNX1 |
| Megalocornea. MGC1 |
| Choroideremia. CHM |
| Epilepsy (Juberg-Hellman syndrome). DEE9 |
| Agammaglobulinemia. AGMX1 |
| Pelizaeus-Merzbacher disease. PMD |
| Fabry disease. GLA |
| Spastic paraplegia. SPG34 |
| Mohr-Tranebjaerg syndrome. MTS |
| Alport syndrome. ATS1 |
| Jensen syndrome. MRXSCJ |
| Cowchock syndrome. COWCK |
| Lissencephaly. LISX1 |
| Hypertrichosis, congenital generalized. HTC2 |
| Bazex syndrome. BDCS |
| Ptosis, hereditary congenital. PTOSX |
| Mental retardation with growth hormone deficiency. MRGH |
| Apoptosis inhibitor. XIAP |
| Mental retardation, South African type. MRXSCH |
| Panhypopituitarism. PHPX |
| Lymphoproliferative syndrome. XLP2 |
| Thoracoabdominal syndrome. THAS |
| X-inactivation, familial skewed. SXI1 |
| Simpson-Golabi-Behmel syndrome, type 1. SGBS1 |
| Pettigrew syndrome. PGS |
| Split hand/foot malformation, type 2. SHFM2 |
| Gustavson mental retardation syndrome. MRXSG |
| Hypoparathyroidism. HYPX |
| Immunodeficiency, with hyper-IgM. HIGM1 |
| Mental retardation, Shashi type. MRXSSH |
| Retinitis pigmentosa. RPSRDF |
| Lesch-Nyhan syndrome. LNS |
| Wood neuroimmunologic syndrome. LWS |
| HPRT-related gout. HRH |
| Heterotaxy, visceral. HTX1 |
| Lowe syndrome. OCRL |
| Albinism-deafness syndrome. ADFN |
| Borjeson-Forssman-Lehmann syndrome. BFLS |
| Cone dystrophy, progressive. COD2 |
| Testicular germ cell tumor. TGCT1 |
| Prostate cancer susceptibility. HPCX1 |
| Hemophilia B. HEMB |
| Fragile-X mental retardation. FXS |
| Warfarin sensitivity. F9 |
| Epidermolysis bullosa, macular type. EBM |
| Osseous dysplasia (male lethal), digital. TOD |
| Diabetes insipidus, nephrogenic. NDI1 |
| Adrenoleukodystrophy. ALD |
| Cancer/testis antigen. CT47A11 |
| Adrenomyeloneuropathy. AMN |
| Dyskeratosis. DKCX |
| Colorblindness, blue monochromatic. CBBM |
Hemophilia A.
HEMA |
| Cardiac valvular dysplasia. CVDPX |
| Hunter syndrome. MPS2 |
| Emery-Dreifuss muscular dystrophy. EDMD1 |
| Mucopolysaccharidosis. MPS10 |
| Heterotopia, periventricular. PVNH1 |
| Intestinal pseudoobstruction, neuronal. IPOX |
| Favism. G6PD |
| Melanoma antigens. MAGE5 |
| Hemolytic anemia. HACXL |
| Mental retardation-skeletal dysplasia. MRSD |
| Colorblindness, green cone pigment. CBD |
| Myotubular myopathy. MTM1 |
| Incontinentia pigmenti, type II. IP2 |
| Otopalatodigital syndrome, type I. OPD1 |
| Hydrocephalus. HYCX |
| Colorblindness, red cone pigment. CBP |
MASA syndrome.
SPG1 |
| Goeninne TKCR syndrome. TKCR |
| Spastic paraplegia. SPG34 |
| Waisman Parkinsonism-mental retardation. WSMN |
| Rett syndrome. RTT |
| Barth syndrome. BTHS |
| Mature T-cell proliferation. MTCP1 |
| Cardiomyopathy, dilated. XLCM |
| Myopia (Bornholm eye disease). BED |
| Noncompaction of left ventricular myocardium. XLCM |
| Mental retardation with psychosis. MRXS13 |
| Von Hippel-Lindau binding protein. VBP1 |
| Endocardial fibroelastosis. EFE |
