100	Hemolytic anemia due to ADA excess
100	Severe combined immunodeficiency due to ADA deficiency
10002	Enhanced S-cone syndrome
10002	Retinitis pigmentosa, late onset
10008	Hypokalemic periodic paralysis
1001	Hypotrichosis, congential, with juvenile macular dystrophy
10020	Inclusion body myopathy, autosomal recessive
10020	Nonaka myopathy
10020	Sialuria
10083	Deafness, autosomal recessive 18
10083	Usher syndrome, type 1C
100918	Narcolepsy
10117	Amelogenesis imperfecta 2, hypoplastic local
10118	Episodic muscle weakness, X-linked
10122	Medullary cystic kidney disease 2
10128	Leigh syndrome, French-Canadian type
10133	Glaucoma 1E, primary open angle, adult-onset
10133	Glaucoma, normal tension, susceptibility to
10157	Hyperlysinemia
10157	Saccharopinuria
10165	Citrullinemia, adult-onset type II
10165	Citrullinemia, type II, neonatal-onset
10166	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
10167	Meconium ileus in cystic fibrosis, susceptibility to
1019	Melanoma
10195	Congenital disorder of glycosylation, type Id
10216	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
10243	Molybdenum cofactor deficiency, type C
1028	Beckwith-Wiedemann syndrome
1029	Li Fraumeni syndrome
1029	Melanoma and neural system tumor syndrome
1029	Melanoma, cutaneous malignant, 2
1029	Orolaryngeal cancer, multiple,
1029	Pancreatic cancer/melanoma syndrome
10305	Mesomelic dysplasia, Kantaputra type
10306	Cataract, posterior polar
10312	Osteopetrosis, recessive
10320	Leukemia, acute lymphoblastic
10386	Mental health wellness-1
10397	Neuropathy, hereditary motor and sensory, Lom type
10461	Retinitis pigmentosa, MERTK-related
10468	Polycystic ovary syndrome
1050	Leukemia, acute myeloid
10516	Cutis laxa, autosomal recessive
10547	Psoriasis, susceptibility to
1055	Cat eye syndrome
10555	Berardinelli-Seip congenital lipodystrophy-1
10558	Neuropathy, hereditary sensory and autonomic, type 1
10560	Thiamine-responsive megaloblastic anemia syndrome
10577	Niemann-pick disease, type C2
10585	Walker-Warburg syndrome
10594	Retinitis pigmentosa-13
10674	Duane syndrome
10682	Chondrodysplasia punctata, X-linked dominant
10683	Spondylocostal dysostosis, autosomal recessive, 1
10684	Glomerulosclerosis, focal segmental, 2
10686	Hypomagnesemia, primary
1071	CETP deficiency
10727	Glomerulopathy, fibronectin
10743	Smith-Magenis syndrome
1075	Haim-Munk syndrome
1075	Papillon-Lefevre syndrome
10774	Dehydrated hereditary stomatocytosis
10774	Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
10774	Pseudohyperkalemia, familial
1079	Craniofrontonasal dysplasia
1080	Congenital bilateral absence of vas deferens
1080	Cystic fibrosis
1080	Hypertrypsinemia, neonatal
1080	Pancreatitis, idiopathic
1080	Sweat chloride elevation without CF
10801	Leukemia, acute myeloid, therapy-related
10801	Ovarian carcinoma
10804	Deafness, autosomal dominant 3
10804	Deafness, nonsyndromic neurosensory, digenic
10804	Ectodermal dysplasia 2, hidrotic
1083	Social cognition
10891	Lipodystrophy, familial partial, with decreased subcutaneous fat of face and neck
10892	MALT lymphoma
10913	Ectodermal dysplasia, hypohidrotic, autosomal dominant
10913	Ectodermal dysplasia, hypohidrotic, autosomal recessive
10962	Leukemia, acute myelomonocytic
10977	Spinocerebellar ataxia-11
10986	Immunoglobulin A deficiency
11005	Atopy
11005	Netherton syndrome
1103	Myasthenia gravis, familial infantile, 2
11081	Cornea plana congenita, recessive
11093	Shulman-Upshaw syndrome
11093	Thrombotic thrombocytopenic purpura, familial
11116	Myeloproliferative disorder
11132	Diabetes mellitus, non-insulin dependent, 1
11136	Cystinuria, type II
11136	Cystinuria, type III
11141	Mental retardation, X-linked, 34
11146	Glomuvenous malformations
11178	Esophageal squamous cell carcinoma
1118	Chitotriosidase deficiency
11192	Dyslexia, specific, 3
11200	Breast cancer, susceptibility to
11200	Li-Fraumeni syndrome
11200	Osteosarcoma, somatic
11200	Prostate cancer, familial
1121	Choroideremia
11234	Hermansky-pudlak syndrome
11236	Renal cell carcinoma
11285	Ehlers-Danlos syndrome, progeroid form
1130	Chediak-Higashi syndrome
11315	Parkinson disease 7, autosomal recessive early-onset
11322	Epidermodysplasia verruciformis
1134	Myasthenic syndrome, slow-channel congenital
1137	Epilepsy, nocturnal frontal lobe, 1
113876	Deafness, autosomal recessive 31
113879	Parkinson disease
1139	Schizophrenia, neurophysiologic defect in
1140	Myasthenic syndrome, slow-channel congenital
114050	Mental retardation syndrome, X-linked, Cabezas type
114086	Anemia, Diamond-Blackfan
1141	Epilepsy, nocturnal frontal lobe, 3
114293	Aneurysmal bone cysts
114333	Atrioventricular septal defect
1144	Myasthenic syndrome, slow-channel congenital
114477	Dermatitis, atopic
1145	Myasthenic syndrome, slow-channel congenital
114548	CINCA syndrome
114548	Cold-induced autoinflammatory syndrome, familial
114548	Muckle-Wells syndrome
114568	Thyroid carcinoma, nonmedullary, 1
1146	Myasthenia gravis, neonatal transient
114610	Spastic ataxia, autosomal dominant
114890	Mental retardation, X-linked, with short stature
1156	Creatine kinase, brain type, ectopic expression of
116085	Hypouricemia, renal
1161	Cockayne syndrome-1
1166	Cerebellar ataxia-2
116833	Aneurysm, intracranial berry
116908	Male infertility due to spermatogenic failure
117084	Candidiasis, familial chronic mucocutaneous, autosomal dominant, with thyroid disease
117156	Asthma, susceptibility to
117187	Dermatitis, atopic
117188	Dermatitis, atopic
117189	Graves disease, susceptibility to, X-linked
117190	Holoprosencephaly-6
117191	Hypertension, essential, susceptibility to, 1
117192	Meningioma, radiation-induced
117237	X inactivation, familial skewed, 2
117531	Deafness, autosomal dominant 36
117531	Deafness, autosomal recessive 7
118	Hypertension, essential, salt-sensitive
1180	Myotonia congenita, dominant
1180	Myotonia congenita, recessive
1180	Myotonia levior, recessive
1181	Epilepsy with grand mal seizures on awakening
1181	Epilepsy, childhood absence
1181	Epilepsy, juvenile absence
1181	Epilepsy, juvenile myoclonic
1184	Dent disease
1184	Hypophosphatemia, type III
1184	Nephrolithiasis, type I
1184	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
1186	Osteopetrosis, autosomal dominant, type II
1186	Osteopetrosis, recessive
1188	Bartter syndrome
1188	Bartter syndrome, antenatal
12	Alpha-1-antichymotrypsin deficiency
12	Cerebrovascular disease, occlusive
1200	Ceroid-lipofuscinosis, neuronal 2, classic late infantile
1201	Ceroid-lipofuscinosis, neuronal-3, juvenile
1203	Ceroid-lipofuscinosis, neuronal-5, variant late infantile
121774	Retinopathy, vascular, with cerebral and renal involvement
121775	Chordoma
121776	Myotonic myopathy, proximal
1218	Cardiomyopathy, familial dilated 1B
1219	Cardiomyopathy, dilated 1C
122	Albinism-deafness syndrome
1221	Cardiomyopathy, dilated, 1E
1222	Cardiomyopathy, dilated, 1F
1231	HIV infection, susceptibility/resistence to
1234	HIV infection, susceptibility/resistance to
1243	Malignant melanoma, cutaneous
1244	Dubin-Johnson syndrome
124590	Usher syndrome, type 1G
125	Alcoholism, susceptibility to
1253	Charcot-Marie-Tooth neuropathy, X-linked-2, recessive
1258	Retinitis pigmentosa, autosomal recessive
1259	Retinitis pigmentosa, autosomal recessive
1261	Achromatopsia-2
1275	Cone dystrophy, progressive X-linked, 2
127534	Erythrokeratodermia variabilis with erythema gyratum repens
1276	Cohen syndrome
1277	Dissection of cervical arteries
1277	Ehlers-Danlos syndrome, type I
1277	Ehlers-Danlos syndrome, type VII
1277	Osteogenesis imperfecta, type I
1277	Osteogenesis imperfecta, type II
1277	Osteogenesis imperfecta, type III
1277	Osteogenesis imperfecta, type IV
1277	Osteoporosis, idiopathic
1278	Ehlers-Danlos syndrome, type VIIA2
1278	Marfan syndrome, atypical
1278	Osteogenesis imperfecta, 3 clinical forms, 166200, 166210
1278	Osteoporosis, idiopathic
1280	Achondrogenesis-hypochondrogenesis, type II
1280	Epiphyseal dysplasia, multiple, with myopia and deafness
1280	Kniest dysplasia
1280	Osteoarthrosis
1280	SED congenita
1280	SMD
1280	SMED Strudwick type
1280	Spondyloperipheral dysplasia
1280	Stickler syndrome, type I
1280	Wagner syndrome
1281	Aneurysm, familial arterial
1281	Ehlers-Danlos syndrome, type III
1281	Ehlers-Danlos syndrome, type IV
1285	Alport syndrome, autosomal recessive
1286	Alport syndrome, autosomal recessive
1286	Hematuria, familial benign
1287	Alport syndrome
1288	Leiomyomatosis, diffuse, with Alport syndrome
1289	Ehlers-Danlos syndrome, type I
1289	Ehlers-Danlos syndrome, type II
1290	Ehlers-Danlos syndrome, type I
1291	Bethlem myopathy
1292	Bethlem myopathy
1292	Ullrich scleroatonic muscular dystrophy
1293	Bethlem myopathy
1293	Ullrich congenital muscular dystrophy
1294	EBD, Bart type
1294	EBD, localisata variant
1294	Epidermolysis bullosa dystrophica, AD
1294	Epidermolysis bullosa dystrophica, AR
1294	Epidermolysis bullosa pruriginosa
1294	Epidermolysis bullosa, pretibial
1294	Toenail dystrophy, isolated
1294	Transient bullous of the newborn
1297	Epiphyseal dysplasia, multiple, COL9A1-related
1298	Epiphyseal dysplasia, multiple, type 2
1298	Intervertebral disc disease, susceptibility to
1299	Epiphyseal dysplasia, multiple, 3
1299	Epiphyseal dysplasia, multiple, with myopathy
1299	Intervertebral disc disease, susceptibility to
1300	Metaphyseal chondrodysplasia, Schmid type
1300	Spondylometaphyseal dysplasia, Japanese type
1301	Marshall syndrome
1301	Stickler syndrome, type II
1302	Deafness, autosomal dominant 13
1302	OSMED syndrome
1302	Stickler syndrome, type III
1302	Weissenbacher-Zweymuller syndrome
1308	Epidermolysis bullosa, generalized atrophic benign
1311	Epiphyseal dysplasia, multiple 1
1311	Pseudoachondroplasia
1312	Schizophrenia, susceptibility to
1319	Cone-rod retinal dystrophy-1
1322	Cone dystrophy, progressive
1324	Cone-rod dystrophy-7
132884	Ellis-van Creveld syndrome
1352	Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency
1355	Cardiomyopathy, hypertrophic, early-onset fatal
1356	Cerebellar ataxia
1356	Hemosiderosis, systemic, due to aceruloplasminemia
1356	Hypoceruloplasminemia, hereditary
135656	Panbronchiolitis, diffuse
1369	Carboxypeptidase N deficiency
1371	Coproporphyria
1371	Harderoporphyrinuria
1373	Carbamoylphosphate synthetase I deficiency
1374	CPT deficiency, hepatic, type IA
1376	CPT deficiency, hepatic, type II
1376	Myopathy due to CPT II deficiency
1377	Cleft palate, X-linked
1378	CR1 deficiency
1378	Knops blood group system
1378	SLE susceptibility
1387	Rubenstein-Taybi syndrome
1392	ACTH deficiency
1403	Craniosynostosis, type 1
140452	Spinocerebellar ataxia 19
140560	Ichthyosis, lamellar, 5
1406	Cone-rod retinal dystrophy-2
1406	Leber congenital amaurosis
1406	Retinitis pigmentosa, late-onset dominant
140652	Systemic lupus erythematosus, vitiligo-related, susceptibility to, 1
140763	Charcot-Marie-Tooth disease, type 2F
140802	Longevity
140803	Hypomagnesemia with secondary hypocalcemia
140805	Hashimoto thyroiditis
140821	Silver-Russell syndrome
1409	Cataract, congenital progressive, autosomal recessive
1409	Cataract, zonular central nuclear, autosomal dominant
140907	Spastic paraplegia-19
1410	Cataract, posterior polar 2
1410	Myopathy, cardioskeletal, desmin-related, with cataract
1411	Cataract, congenital zonular, with sutural opacities
1415	Cataract, cerulean, type 2
1415	Cataract, sutural, with punctate and cerulean opacities
1420	Cataract, Coppock-like
1420	Cataract, variable zonular pulverulent
1421	Cataract, crystalline aculeiform
1421	Cataracts, punctate, progressive juvenile-onset
1428	Deafness, autosomal dominant 40
1433	Choreoathetosis/spasticity, episodic
1436	Myeloid malignancy, predisposition to
1438	Leukemia, acute myeloid, M2 type
1439	Pulmonary alveolar proteinosis
1442	Placental lactogen deficiency
145282	Mirror-image polydactyly
146059	Anemia, congenital dyserythropoietic, type I
146183	Deafness, autosomal recessive 22
1471	Cerebral amyloid angiopathy
147138	Epidermodysplasia verruciformis
1476	Epilepsy, progressive myoclonic 1
1482	Atrial septal defect with atrioventricular conduction defects
1482	Atrioventricular block, idiopathic second-degree
1482	Tetrology of Fallot
1484	Cataract, anterior polar-2
1491	Cystathioninuria
1494	Cataract, Marner type
1497	Cystinosis, atypical nephropathic
1497	Cystinosis, late-onset juvenile or adolescent nephropathic
1497	Cystinosis, nephropathic
1497	Cystinosis, ocular nonnephropathic
1499	Colorectal cancer
1499	Hepatoblastoma
1499	Hepatocellular carcinoma
1499	Ovarian carcinoma, endometrioid type
1499	Pilomatricoma
1501	Mental retardation in cri-du-chat syndrome
1513	Pycnodysostosis
152	Congestive heart failure, susceptibility to
1524	Rapid progression to AIDS from HIV1 infection
1528	Methemoglobinemia due to cytochrome b5 deficiency
153	Resting heart rate
153	congestive heart failure, susceptibility to
1535	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
1536	Chronic granulomatous disease, X-linked
154	Asthma, nocturnal, susceptibility to
154	Obesity, susceptibility to
1540	Cylindromatosis, familial
1545	Glaucoma 3A, primary congenital
1545	Glaucoma, early-onset, digenic
1545	Peters anomaly
1548	Coumarin resistance
1548	Nicotine addiction, protection from
1557	Mephenytoin poor metabolizer
1559	Tolbutamide poor metabolizer
1559	Warfarin sensitivity
1565	Debrisoquine sensitivity
1565	Parkinsonism, susceptibility to
158	Adenylosuccinase deficiency
158	Autism, succinylpurinemic
1584	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
1584	Aldosteronism, glucocorticoid-remediable
1585	Aldosterone to renin ratio raised
1585	Hypoaldosteronism, congenital, due to CMO I deficiency
1585	Hypoaldosteronism, congenital, due to CMO II deficiency
1585	Low renin hypertension, susceptibility to
1586	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
1588	Gynecomastia, familial, due to increased aromatase activity
1588	Virilization, maternal and fetal, from placental aromatase deficiency
1589	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
1593	Cerebrotendinous xanthomatosis
1594	Pseudovitamin D deficiency rickets 1
160176	Osteopathia striata with cranial sclerosis
1603	Temperature-sensitive apoptosis
1610	Schizophrenia
161497	Deafness, autosomal recessive 16
1621	Dopamine-beta-hydroxylase activity levels, plasma
1629	Maple syrup urine disease, type II
1630	Colorectal cancer
1636	Alzheimer disease, susceptibility to
1636	Myocardial infarction, susceptibility to
1637	Down syndrome
1639	Lower motor neuron disease, progressive, without sensory symptoms
1641	Lissencephaly, X-linked
1641	Subcortical laminal heteropia, X-linked
1642	Xeroderma pigmentosum, group E, subtype 2
1643	Xeroderma pigmentosum, group E, DDB-negative subtype
1649	Myxoid liposarcoma
166785	Methylmalonic aciduria, vitamin B12-responsive
1674	Cardiomyopathy, dilated, 1I
1674	Myopathy, desmin-related, cardioskeletal
1678	Deafness, X-linked 1, progressive
1678	Jensen syndrome
1678	Mohr-Tranebjaerg syndrome
1679	Deafness, X-linked 2, perceptive congenital
168	Acrodermatitis enteropathica, zinc-deficiency type
1680	Deafness, X-linked 4, congenital sensorineural
1682	Deafness, X-linked 6, sensorineural
1686	Deafness, autosomal dominant 4
1687	Deafness, autosomal dominant 5
1689	Deafness, autosomal dominant 7
1690	Deafness, autosomal dominant 9
1690	Meniere disease
1694	Deafness, autosomal dominant 16
1697	Deafness, autosomal recessive 5
170302	Infantile spasm syndrome, X-linked
170302	Lissencephaly, X-linked with ambiguous genitalia
170302	Myoclonic epilepsy, X-linked, with mental retardation and spasticity
170302	Partington syndrome
170474	Hemifacial microsomia
1705	Deafness, autosomal recessive 13
170508	Deafness, autosomal recessive 33
170534	Parkinson disease
170592	Melanoma, uveal, susceptibility to, 1
170593	Melanoma, uveal, susceptibility to, 2
170594	Waardenburg syndrome, type IIC
170595	Inflammatory bowel disease-8
1706	Deafness, autosomal recessive 14
170682	Systemic lupus erythematosus with hemolytic anemia
1707	Deafness, autosomal recessive 15
170795	Charcot-Marie-Tooth disease, type 1C
170814	Kufor-Rakeb syndrome
170815	Body mass index
1709	Deafness, autosomal recessive 17
171012	van der Woude syndrome 2
171013	Specific language impairment QTL, 1
171014	Specific language impairment QTL, 2
171025	Parkinson disease
171089	Dyslexia, specific, 5
171157	Split-hand/foot malformation 5
1713	Deafness, autosomal recessive 20
1714	DiGeorge syndrome
1714	Velocardiofacial syndrome
171511	Circulating adiponectin QTL
171512	Circulating adiponectin QTL
171513	Peripheral arterial occlusive disease 1
171514	Anorexia nervosa, susceptibility to
171515	Fetal hemoglobin QTL
1716	Mitochondrial DNA-depletion syndrome, hepatocerebral form
1717	Smith-Lemli-Opitz syndrome, type I
1717	Smith-Lemli-Opitz syndrome, type II
1718	Desmosterolosis
1727	Methemoglobinemia, type I
1727	Methemoglobinemia, type II
1728	Benzene toxicity, susceptibility to
1728	Leukemia, post-chemotherapy, susceptibility to
1729	Deafness, autosomal dominant 1
1730	Premature ovarian failure
1736	Dyskeratosis congenita-1
1736	Hoyeraal-Hreidarsson syndrome
1738	Lipoamide dehydrogenase deficiency
174	AFP deficiency, congenital
174	Hereditary persistence of alpha-fetoprotein
1747	Trichodontoosseous syndrome
175	Aspartylglucosaminuria
1755	Glioblastoma multiforme, somatic
1755	Medulloblastoma
1756	Becker muscular dystrophy
1756	Cardiomyopathy, dilated, X-linked
1756	Duchenne muscular dystrophy
1757	Sarcosinemia
1760	Myotonic dystrophy
1761	XY sex reversal
1767	Kartagener syndrome
1767	Primary ciliary dyskinesia
178	Glycogen storage disease IIIa
178	Glycogen storage disease IIIb
1789	Immunodeficiency-centromeric instability-facial anomalies syndrome
179	Agammaglobulinemia, type 2, X-linked
18	GABA-transaminase deficiency
1806	Fluorouracil toxicity, sensitivity to
1806	Thymine-uraciluria
1807	Dihydropyrimidinuria
181	Obesity, late-onset
1813	Dystonia, myoclonic
1814	Schizophrenia, susceptibility to
1815	Autonomic nervous system dysfunction
1815	Novelty seeking personality
1816	Blepharospasm, primary benign
1816	Dystonia, primary cervical
182	Alagille syndrome
182	Deafness, congenital heart defects, and posterior embryotoxon
182	Tetralogy of Fallot
1822	Dentatorubro-pallidoluysian atrophy
1828	Keratosis palmoplantaris striata I
183	Hypertension, essential, susceptibility to
183	Preeclampsia, susceptibility to
1832	Arrhythmogenic right ventricular dysplasia 8
1832	Dilated cardiomyopathy with woolly hair and keratoderma
1832	Keratosis palmoplantaris striata II
1832	Skin fragility-woolly hair syndrome
1834	Dentinogenesis imperfecta-1
1834	Dentinogenesis imperfecta-1 with deafness
1836	Achondrogenesis Ib
1836	Atelosteogenesis II
1836	Diastrophic dysplasia
1836	Diastrophic dysplasia, broad bone-platyspondylic variant
1836	Epiphyseal dysplasia, multiple
1837	Left ventricular noncompaction with congenital heart defects
1837	Left ventricular noncompaction, familial isolated
1839	Diphtheria, susceptibility to
185	Hypertension, essential
1861	Dystonia, early-onset atypical, with myoclonic features
1861	Dystonia-1, torsion
1863	Dystonia-3, torsion, with parkinsonism, Filipino type
1865	Dystonia-6, torsion
1866	Dystonia-7, torsion
1867	Dyslexia-1
1868	Dyslexia, specific, 2
1889	Hirschsprung disease, cardiac defects, and autonomic dysfunction
189	Hyperoxaluria, primary, type 1
1890	Myoneurogastrointestinal encephalomyopathy syndrome
1893	Lipoid proteinosis
1896	Ectodermal dysplasia-1, anhidrotic
19	Cerebral amyloid angiopathy
19	HDL deficiency, familial
19	Tangier disease
190	Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
190	Dosage-sensitive sex reversal
1908	Central hypoventilation syndrome, congenital
1908	Hirschsprung disease
1908	Shah-Waardenburg syndrome
1910	ABCD syndrome
1910	Hirschsprung disease-2
1914	Ectrodactyly, ectodermal dysplasia, cleft lip/palate-2
192	Aicardi syndrome
192115	Migraine with aura, susceptibility to
192116	Stroke, susceptibility to
192142	Restless legs syndrome
192143	Stature QTL 7
192144	HDL cholesterol level QTL 1
192149	Body mass index
193	Allan-Herndon syndrome
1941	Epilepsy, female restricted, with mental retardation
1957	Epilepsy, generalized, idiopathic
1959	Charcot-Marie-Tooth disease, type 1
1959	Dejerine-Sottas neuropathy
1959	Neuropathy, congenital hypomyelinating, 1
1967	Leukoencephalopathy with vanishing white matter
198	Ocular albinism, Forsius-Eriksson type
1988	Epilepsy, juvenile myoclonic
1991	Hematopoiesis, cyclic
1991	Neutropenia, congenital
1996	Neuropathy, paraneoplastic sensory
2	Alzheimer disease, susceptibility to
2	Emphysema due to alpha-2-macroglobulin deficiency
200	Amelogenesis imperfecta-2, hypoplastic local type
2006	Cutis laxa
2006	Supravalvar aortic stenosis
2006	Williams-Beuren syndrome
2010	Emery-Dreifuss muscular dystrophy
201163	Birt-Hogg-Dube syndrome
2018	Schizencephaly
2022	Hereditary hemorrhagic telangiectasia-1
2023	Enolase deficiency
203	Hemolytic anemia due to adenylate kinase deficiency
2031	Enuresis, nocturnal, 1
2032	Enuresis, nocturnal, 2
2033	Colorectal cancer
2035	Elliptocytosis-1
2038	Spherocytosis, hereditary, Japanese type
2055	Epilepsy, progressive, with mental retardation
2057	Erythrocytosis, familial
2068	Cerebrooculofacioskeletal syndrome
2068	Trichothiodystrophy
2068	Xeroderma pigmentosum, group D
2070	Deafness, autosomal dominant 10
2071	Trichothiodystrophy
2071	Xeroderma pigmentosum, group B
207114	Pancreatic cancer, 1
2072	Xeroderma pigmentosum, group F
2073	Cerebrooculofacioskeletal syndrome
2073	Xeroderma pigmentosum, group G
2074	Cerebrooculofacioskeletal syndrome
2074	Cockayne syndrome-2, type B
2074	De Sanctis-Cacchione syndrome
208	Ovarian carcinoma
2099	Breast cancer
2099	Estrogen resistance
2099	HDL response to hormone replacement, augmented
210	Lead poisoning, susceptibility to
210	Porphyria, acute hepatic
2108	Glutaricaciduria, type IIA
2109	Glutaricaciduria, type IIB
2110	Glutaricaciduria, type IIC
2111	Tremor, familial essential, 1
2112	Tremor, familial essential, 2
212	Anemia, sideroblastic/hypochromic
2120	Leukemia, acute lymphoblastic
2121	Ellis-van Creveld syndrome
2121	Weyers acrodental dysostosis
2122	3q21q26 syndrome
213	Analbuminemia
213	Dysalbuminemic hyperthyroxinemia
213	Dysalbuminemic hyperzincemia
2130	Chondrosarcoma, extraskeletal myxoid
2130	Ewing sarcoma
2130	Neuroepithelioma
2131	Chondrosarcoma
2131	Exostoses, multiple, type 1
2132	Exostoses, multiple, type 2
2133	Exostoses, multiple, type 3
2138	Anterior segment anomalies and cataract
2138	Branchiootic syndrome
2138	Branchiootorenal syndrome
2138	Branchiootorenal syndrome with cataract
2144	Eye color, brown
2147	Dysprothrombinemia
2147	Hyperprothrombinemia
2147	Hypoprothrombinemia
215	Adrenoleukodystrophy
215	Adrenomyeloneuropathy
2153	Hemorrhagic diathesis due to factor V deficiency
2153	Thromboembolism susceptibility due to factor V Leiden
2155	Factor VII deficiency
2155	Myocardial infarction, decreased susceptibility to
2157	Hemophilia A
2158	Hemophilia B
2158	Warfarin sensitivity
2159	Factor X deficiency
2160	Factor XI deficiency
2161	Factor XII deficiency
2162	Factor XIIIA deficiency
2165	Factor XIIIB deficiency
2166	Drug addiction, susceptibility to
217	Alcohol intolerance, acute
217	Fetal alcohol syndrome
2175	Fanconi anemia, complementation group A
2176	Fanconi anemia, complementation group C
2177	Fanconi anemia, complementation group D2
2178	Fanconi anemia, complementation group E
2182	Mental retardation, X-linked nonspecific, 63
2184	Tyrosinemia, type I
2188	Fanconi anemia, complementation group F
2189	Fanconi anemia, complementation group G
22	Anemia, sideroblastic, with ataxia
2200	Ectopia lentis, familial
2200	MASS syndrome
2200	Marfan syndrome
2200	Shprintzen-Goldberg syndrome
2201	Contractural arachnodactyly, congenital
2202	Doyne honeycomb degeneration of retina
2203	Fructose-bisphosphatase deficiency
2206	Asthma, atopic, susceptibility to
2209	IgG receptor I, phagocytic, familial deficiency of
2212	Lupus nephritis, susceptibility to
2213	Lymphoma, progression of
2214	Lupus erythematosus, systemic, susceptibility
2214	Neutropenia, alloimmune neonatal
2214	Viral infections, recurrent
2218	Muscular dystrophy, Fukuyama congenital
2221	Heterocellular hereditary persistence of fetal hemoglobin, Swiss type
2233	Convulsions, familial febrile, 1
2234	Convulsions, familial febrile, 2
2235	Protoporphyria, erythropoietic
2235	Protoporphyria, erythropoietic, recessive, with liver failure
224	Sjogren-Larsson syndrome
2240	Fibrosis of extraocular muscles, congenital, 1
2243	Afibrinogenemia
2243	Amyloidosis, hereditary renal
2243	Dysfibrinogenemia, alpha type, causing bleeding diathesis
2243	Dysfibrinogenemia, alpha type, causing recurrent thrombosis
2244	Afibrinogenemia, congenital
2244	Dysfibrinogenemia, beta type
2244	Thrombophilia, dysfibrinogenemic
2245	Aarskog-Scott syndrome
2245	Mental retardation, X-linked nonsyndromic
2259	Cerebellar ataxia, autosomal dominant, FGF14-related
226	Aldolase A deficiency
2260	Jackson-Weiss sydnrome
2260	Kallmann syndrome 2
2260	Pfeiffer syndrome
2261	Achondroplasia
2261	Bladder cancer
2261	Cervical cancer, somatic
2261	Colorectal cancer, somatic
2261	Crouzon syndrome with acanthosis nigricans
2261	Hypochondroplasia
2261	Muencke syndrome
2261	Thanatophoric dysplasia, types I and II
2263	Antley-Bixler syndrome
2263	Apert syndrome
2263	Beare-Stevenson cutis gyrata syndrome
2263	Craniofacial-skeletal-dermatologic dysplasia
2263	Craniosynostosis, nonspecific
2263	Crouzon syndrome
2263	Gastric cancer, somatic
2263	Jackson-Weiss syndrome
2263	Pfeiffer syndrome
2263	Saethre-Chotzen syndrome
2264	Cancer progression/metastasis
2266	Dysfibrinogenemia, gamma type
2266	Hypofibrinogenemia, gamma type
2266	Thrombophilia, dysfibrinogenemic
2269	FG syndrome
2270	FG syndrome
2271	Fumarase deficiency
2271	Leiomyomatosis and renal cell cancer
2271	Multiple cutaneous and uterine leiomyomata,
22800	Ovarian carcinoma
22811	Moebius syndrome-3
229	Fructose intolerance
22954	Muscular dystrophy, limb-girdle, type 2H
2296	Anterior segment mesenchymal dysgenesis
2296	Axenfeld anomaly
2296	Iridogoniodysgenesis
2296	Iris hypoplasia and glaucoma
2296	Rieger anomaly
2301	Anterior segment mesenchymal dysgenesis
2303	Lymphedema and ptosis
2303	Lymphedema, hereditary II
2303	Lymphedema-distichiasis syndrome
2303	Yellow nail syndrome
2304	Bamforth-Lazarus syndrome
2308	Rhabdomyosarcoma, alveolar
23092	Leukemia, juvenile myelomonocytic
23095	Charcot-Marie-Tooth neuropathy, type 2A
23111	Troyer syndrome
2316	Frontometaphyseal dysplasia
2316	Heterotopia, periventricular
2316	Melnick-Needles syndrome
2316	Otopalatodigital syndrome, type I, 311300, Otopalatodigital syndrome, type II
23209	Megalencephalic leukoencephalopathy with subcortical cysts
2322	Leukemia, acute myeloid
2322	Leukemia, acute myeloid, reduced survival in
23230	Choreoacanthocytosis
2324	Hemangioma, capillary infantile, somatic
2324	Lymphedema, hereditary I
2328	Fish-odor syndrome
23305	Myelodysplastic syndrome
23305	Myelogenous leukemia, acute
2332	Fragile X syndrome
2334	Mental retardation, X-linked, FRAXE type
23365	Leukemia, acute myeloid
23402	Simpson-Golabi-Behmel syndrome, type 2
23417	Malonyl-CoA decarboxylase deficiency
23418	Leber congenital amaurosis
23418	Retinitis pigmentosa-12, autosomal recessive
23442	Spastic paraplegia-11
23459	Cardiomyopathy, dilated, 1H
2348	Congenital anomalies, susceptibility to
23512	Endometrial stromal tumors
23562	Deafness, autosomal recessive 29
23600	Alpha-methylacyl-CoA racemase deficiency
23672	Thrombocytopenia-2
23675	Spastic paraplegia-12
23680	Retinitis pigmentosa-28
23691	Nanophthalmos-1
23695	Mental retardation, X-linked-72
23701	Microcephaly, primary autosomal recessive, 4
23702	Microcephaly, primary autosomal recessive, 3
23703	Osteosarcoma
23713	Deafness, autosomal recessive 27
23714	Deafness, autosomal recessive 26
23719	Deafness, autosomal dominant 30
23723	Deafness, autosomal dominant 24
23724	Deafness, autosomal dominant 23
23726	Deafness autosomal dominant 26
23726	Deafness, autosomal dominant 20
23745	Arrhythmogenic right ventricular dysplasia-5
23746	Cone-rod dystrophy
23746	Leber congenital amaurosis
23746	Retinitis pigmentosa, juvenile
23773	Charcot-Marie-Tooth disease, type 4B, form 2
23780	Schizophrenia
2395	Friedreich ataxia
2395	Friedreich ataxia with retained reflexes
24	Cone-rod dystrophy 3
24	Fundus flavimaculatus
24	Macular dystrophy, age-related, 2
24	Retinitis pigmentosa-19
24	Stargardt disease-1
2420	Friedreich ataxia
245969	Polymicrogyria, bilateral perisylvian
245971	Polymicrogyria, bilateral frontoparietal
246180	Cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities
246230	Capillary malformations, hereditary
246231	Weill-Marchesani syndrome
246259	Bone mineral density variability 3
246260	Brachydactyly, type A1
246319	Vitiligo, susceptibility to
246320	Inclusion body myopathy with Paget disease and frontotemporal dementia
246321	Hirschsprung disease, short-segment, 2
246322	Hirschsprung disease, short-segment, 3
246743	Fibrosis of extraocular muscles, congenital, 3A
246750	Myasthenia gravis with thymus hyperplasia
246751	Spinal muscular atrophy, chronic distal, autosomal recessive
2482	Mental retardation, X-linked, FRAXF type
2489	Facioscapulohumeral muscular dystrophy-1A
249	Hypophosphatasia, adult
249	Hypophosphatasia, childhood
249	Hypophosphatasia, infantile
2492	Ovarian sex cord tumors
2492	Premature ovarian failure
2492	Twinning, dizygotic
2495	Iron overload, autosomal dominant
25	Leukemia, Philadelphia chromosome-positive, resistant to imatinib
2512	Basal ganglia disease, adult-onset
2512	Hyperferritinemia-cataract syndrome
2516	Adrenocortical insufficiency without ovarian defect
2516	Sex reversal, XY, with adrenal failure
2517	Fucosidosis
2528	Fucosyltransferase-6 deficiency
252842	Aortic aneurysm, familial thoracic 1
252843	Aortic aneurysm, familial thoracic 2
252867	Deafness, sensorineural, autosomal-mitochondrial
253	Amyotrophic lateral sclerosis
2531	Lymphoma/leukemia, B-cell, variant
2532	Vivax malaria, susceptibility to
2538	Glycogen storage disease I
2539	Favism
2539	G6PD deficiency
2539	Hemolytic anemia due to G6PD deficiency
254	Amyotrophic lateral sclerosis-4, juvenile dominant
2542	Glycogen storage disease Ib
2542	Glycogen storage disease Ic
2548	Glycogen storage disease II
255	Amytrophic lateral sclerosis-5, juvenile recessive
2554	Epilepsy, juvenile myoclonic
2566	Epilepsy, childhood absence
2566	Epilepsy, generalized, with febrile seizures plus
2566	Myoclonic epilepsy, severe, of infancy
257641	Nasopharyngeal carcinoma 1
25788	Colon adenocarcinoma
25788	Lymphoma, non-Hodgkin
2581	Krabbe disease
2582	Galactose epimerase deficiency
2584	Galactokinase deficiency with cataracts
2588	Mucopolysaccharidosis IVA
2592	Galactosemia
259236	Deafness, autosomal recessive 6
259266	Microcephaly, primary autosomal recessive, 5
2593	GAMT deficiency
260	Arthrogryposis multiplex congenita, distal, type 1
260295	Moyamoya disease 2
260328	Allergic rhinitis
260402	Scoliosis, idiopathic 1
260403	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
260431	Pulmonary disease, chronic obstructive, severe early-onset
260432	Senior-Loken syndrome 3
26053	Autism-like syndrome
261	Arthrogryposis multiplex congenita, neurogenic
26119	Hypercholesterolemia, familial, autosomal recessive
26121	Retinitis pigmentosa-11
261727	Creatinine clearance QTL
261734	Nephronophthisis 4
261734	Senior-Loken syndrome 4
26176	Fibrosis of extraocular muscles, congenital, 3
26176	Fibrosis, congenital, of vertically acting extraocular muscles
26177	Meckel syndrome, type 2
26227	Phosphoglycerate dehydrogenase deficiency
2623	Dyserythropoietic anemia with thrombocytopenia, 300367Macrothrombocytopenia
2623	Leukemia, megakaryoglastic, of Down syndrome
2625	Hypoparathyroidism, sensorineural deafness, and renal dysplasia
26278	Spastic ataxia, Charlevoix-Saguenay type
2628	AGAT deficiency
2629	Gaucher disease
2629	Gaucher disease with cardiovascular calcification
2632	Glycogen storage disease IV
2638	Graves disease, susceptibility to, 3
2639	Glutaricaciduria, type I
264	Acromesomelic dysplasia, Maroteaux type
2641	Hyperproglucagonemia
2642	Diabetes mellitus, noninsulin-dependent
2643	Dystonia, DOPA-responsive
2643	Phenylketonuria, atypical, due to GCH1 deficiency
2645	Diabetes mellitus, neonatal-onset
2645	Hyperinsulinism, familial
2645	MODY, type II
265	Amelogenesis imperfecta
26503	Salla disease
26503	Sialic acid storage disorder, infantile
2651	Ii blood group
26511	Leukemia, acute myeloid
26512	Nonsmall cell lung cancer
2652	Blue-cone monochromacy
2652	Colorblindness, deutan
2653	Glycine encephalopathy
26580	Berardinelli-Seip congenital lipodystrophy-2
2664	Mental retardation, X-linked nonspecific
266597	Mental retardation, nonsyndromic, autosomal recessive, 2A
266691	Dyslexia
266710	Oculomotor apraxia, congential, Cogan-type
266719	Radial ray deficiency
266788	Earwax, wet/dry
266789	Epilepsy, partial, with pericentral spikes
266790	Hypercalciuria, absorptive
266791	Asthma, susceptibility to
2668	Central hypoventilation syndrome
2668	Hirschsprung disease
266959	BRESHECK syndrome
266978	Microphthalmia with associated anomalies 2
266979	Cataract, nuclear progressive
2670	Alexander disease
267012	Schizophrenia
2677	Vitamin K-dependent coagulation defect
2678	Glutathioninuria
2679	Gamma-glutamyltransferase, familial high serum
268	Persistent Mullerian duct syndrome, type I
2683	Congenital disorder of glycosylation, type IId
2688	Isolated growth hormone deficiency, Illig type with absent GH and Kowarski type with bioinactive GH
269	Persistent Mullerian duct syndrome, type II
2690	Laron dwarfism
2690	Short stature, autosomal dominant, with normal serum growth hormone binding protein
2690	Short stature, idiopathic
2692	Growth hormone deficient dwarfism
2694	Anemia, pernicious, congenital, due to deficiency of intrinsic factor
2697	Oculodentodigital dysplasia
2697	Syndactyly, type III
27	Leukemia, acute myeloid, with eosinophilia
270	Myoadenylate deaminase deficiency
2700	Cataract, zonular pulverulent-3
27003	Aicardi-Goutieres syndrome 1
27011	Duane retraction syndrome 2
27019	Kartagener syndrome
27019	Primary ciliary dyskinesia
2703	Cataract, zonular pulverulent-1
27030	Colon cancer, hereditary nonpolypopsis
27030	Colorectal cancer, somatic
27031	Nephronophthisis, adolescent
27032	Hailey-Hailey disease
27038	Arrhythmogenic right ventricular dysplasia-6
2705	Charcot-Marie-Tooth neuropathy, X-linked-1, dominant
2706	Deafness, autosomal dominant 3
2706	Deafness, autosomal recessive 1
2706	Hystrix-like ichthyosis with deafness
2706	Keratitis-ichthyosis-deafness syndrome
2706	Keratoderma, palmoplantar, with deafness
2706	Vohwinkel syndrome
27066	Convulsions, familial febrile, 3
2707	Deafness, autosomal dominant 2
2707	Deafness, autosomal dominant, with peripheral neuropathy
2707	Deafness, autosomal recessive
2707	Erythrokeratodermia variabilis
2710	Glycerol kinase deficiency
2710	Hyperglycerolemia
2717	Fabry disease
27184	Schizophrenia
27185	Schizophrenia
2719	Simpson-Golabi-Behmel syndrome, type 1
2719	Wilms tumor, somatic
272	AMP deaminase deficiency, erythrocytic
2720	GM1-gangliosidosis
2720	Mucopolysaccharidosis IVB
2722	Glaucoma 1B, primary open angle, adult onset
2723	Glaucoma 1C, primary open angle
27232	Glycine N-methyltransferase deficiency
2724	Glaucoma 1D, primary open angle
27259	Hemophagocytic lymphohistiocytosis, familial, 1
2726	Glaucoma 1F
2728	Glaucoma 3, primary infantile, B
2729	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
2731	Glycine encephalopathy
2737	Greig cephalopolysyndactyly syndrome
2737	Pallister-Hall syndrome
2737	Polydactyly, postaxial, types A1 and B
2737	Polydactyly, preaxial, type IV
2741	Hyperekplexia and spastic paraparesis
2741	Startle disease, autosomal recessive
2741	Startle disease/hyperekplexia, autosomal dominant
2746	Hyperinsulinism-hyperammonemia syndrome
275	Glycine encephalopathy
2760	GM2-gangliosidosis, AB variant
2771	Pituitary ACTH-secreting adenoma
2771	Ventricular tachycardia, idiopathic
2776	Bleeding diathesis due to GNAQ deficiency
2778	McCune-Albright syndrome
2778	Osseous heteroplasia, progressive
2778	Pituitary ACTH secreting adenoma
2778	Pseudohypoparathyroidism, type Ia
2778	Somatotrophinoma
2779	Night blindness, congenital stationary
2780	Achromatopsia
2784	Hypertension, essential, susceptibility to
2795	Mucolipidosis II
2795	Mucolipidosis III
2798	Fertile eunuch syndrome
2798	Hypogonadotropic hypogonadism
2799	Mucopolysaccharidosis type IIID
2811	Bernard-Soulier syndrome
2812	Bernard-Soulier syndrome, type B
2812	Giant platelet disorder, isolated
2815	Bernard-Soulier syndrome, type C
2820	Diabetes mellitus, noninsulin-dependent
2821	Hemolytic anemia due to glucosephosphate isomerase deficiency
2821	Hydrops fetalis, one form
282548	Stature QTL 6
282549	Stature QTL 12
282550	Stature QTL 13
282551	Insulinoma
282552	Scoliosis, idiopathic 2
282553	Autism, susceptibility to, 3
282630	Meckel syndrome, type 3
282631	Glucocorticoid deficiency 2
282807	Obesity QTL
282808	Mental retardation, profound
283569	Microphthalmia, cataracts, and iris abnormalities
28515	Hyperlipidemia, combined, 2
286	Spherocytosis-2
287	Long QT syndrome 4
2876	Hemolytic anemia due to glutathione peroxidase deficiency
2908	Cortisol resistance
291	Progressive external ophthalmoplegia with mitochondrial DNA deletions
2933	Geniospasm
2934	Amyloidosis, Finnish type
2936	Hemolytic anemia due to glutathione reductase deficiency
2937	5-oxoprolinuria
2937	Hemolytic anemia due to glutathione synthetase deficiency
2954	Tyrosinemia, type Ib
2956	Cancer susceptibility
2956	Colorectal cancer, hereditary nonpolyposis, type 5
2956	Endometrial carcinoma
2956	Ovarian cancer, endometrial type
2973	Tourette syndrome
29760	Hypoglobulinemia and absent B cells
2978	Cone dystrophy-3
29851	ICOS deficiency
2989	Scurvy
2990	Mucopolysaccharidosis VII
29929	Congenital disorder of glycosylation, type Ic
2995	Malaria, falciparum, resistance to
29958	Dimethylglycine dehydrogenase deficiency
2997	Diabetes mellitus, noninsulin-dependent
2998	Glycogen storage disease, type 0
30	Pseudo-Zellweger syndrome
3000	Cone-rod dystrophy 6
3000	Leber congenital amaurosis, type I
30061	Hemochromatosis, type 4
3029	Glyoxalase II deficiency
3030	Fatty liver, acute, of pregnancy
3030	HELLP syndrome, maternal, of pregnancy
3030	LCHAD deficiency
3030	Trifunctional protein deficiency, type 1
3032	Trifunctional protein deficiency, type II
3034	Histidinemia
3039	Erythremias, alpha-
3039	Heinz body anemias, alpha-
3039	Methemoglobinemias, alpha-
3039	Thalassemias, alpha-
3040	Erythrocytosis
3040	Heinz body anemia
3040	Hemoglobin H disease
3040	Hypochromic microcytic anemia
3040	Thalassemia, alpha-
3043	Erythremias, beta-
3043	HPFH, deletion type
3043	Heinz body anemias, beta-
3043	Methemoglobinemias, beta-
3043	Sickle cell anemia
3043	Thalassemias, beta-
3045	Thalassemia due to Hb Lepore
3045	Thalassemia, delta-
3047	HPFH, nondeletion type A
3048	HPFH, nondeletion type G
3053	Thrombophilia due to heparin cofactor II deficiency
3057	Hair color, red
3058	Hair color, brown
3060	Narcolepsy
3064	Huntington disease
3073	GM2-gangliosidosis, several forms
3073	Hex A pseudodeficiency
3073	Tay-Sachs disease
3074	Sandhoff disease, infantile, juvenile, and adult forms
3074	Spinal muscular atrophy, juvenile
3075	Factor H deficiency
3075	Hemolytic-uremic syndrome
3075	Membroproliferative glomerulonephritis
3075	Nephropathy, chronic hypocomplementemic
3077	Hemochromatosis
3077	Porphyria variegata
3081	Alkaptonuria
30813	Corneal dystrophy, hereditary polymorphous posterior
30813	Keratoconus
30828	Leber congenital amaurosis
30829	Inflammatory bowel disease-3
3084	Schizophrenia, susceptibility to
3086	Hypocalciuric hypercalcemia, type II
3092	Prostate cancer, progression of
3098	Hemolytic anemia due to hexokinase deficiency
31	Acetyl-CoA carboxylase deficiency
3110	Currarino syndrome
3115	Beryllium disease, chronic, susceptibility to
3119	Creutzfeldt-Jakob disease, variant, resistance to
3123	Pemphigoid, susceptibility to
3141	Multiple carboxylase deficiency, biotin-responsive
3141	Multiple carboxylase deficiency, biotin-unresponsive
3145	Porphyria, acute intermittent
3145	Porphyria, acute intermittent, nonerythroid variant
3155	HMG-CoA lyase deficiency
3158	HMG-CoA synthase-2 deficiency
3162	Heme oxygenase-1 deficiency
3165	Homosexuality, male
3172	Diabetes mellitus, noninsulin-dependent
3172	MODY, type I
3176	Asthma, susceptibility to
317714	Dystonia, myoclonic
317773	Migraine with or without aura, susceptibility to
317773	Migraine, familial hemiplegic
3195	Leukemia, T-cell acute lymphocytic
3207	Radioulnar synostosis with amegakaryocytic thrombocytopenia
3209	Guttmacher syndrome
3209	Hand-foot-uterus syndrome
3239	Synpolydactyly, type II
324	Adenoma, periampullary
324	Adenomatous polyposis coli
324	Adenomatous polyposis coli, attenuated
324	Colorectal cancer
324	Desmoid disease, hereditary
324	Gardner syndrome
324	Gastric cancer
324	Turcot syndrome
3240	Anhaptoglobinemia
3240	Hypohaptoglobinemia
3242	Tyrosinemia, type III
3244	Holoprosencephaly-1
325	Amyloidosis, secondary, susceptibility to
3251	HPRT-related gout
3251	Lesch-Nyhan syndrome
3257	Hermansky-Pudlak syndrome
3258	Hypoparathyroidism, X-linked
326	Autoimmune polyglandular disease, type I
326335	FG syndrome 4
3265	Bladder cancer
326625	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
3273	Thrombophilia due to HRG deficiency
3273	Thrombophilia due to elevated HRG
3284	3-beta-hydroxysteroid dehydrogenase, type II, deficiency
3291	Apparent mineralocorticoid excess, hypertension due to
3291	Hypertension, mild low-renin
3293	Pseudohermaphroditism, male, with gynecomastia
3295	D-bifunctional protein deficiency
3299	Cataract, Marner type
3299	Cataract, lamellar
33	Acyl-CoA dehydrogenase, long chain, deficiency of
3329	Spastic paraplegia-13
3339	Dyssegmental dysplasia, Silverman-Handmaker type
3339	Schwartz-Jampel syndrome, type 1
3342	Hypertrichosis, congenital generalized
335	Amyloidosis, 3 or more types
335	ApoA-I and apoC-III deficiency, combined
335	Corneal clouding, autosomal recessive
335	Hypertriglyceridemia, one form
335	Hypoalphalipoproteinemia
336	Apolipoprotein A-II deficiency
336	Hypercholesterolemia, familial, modification of
3373	Mucopolysaccharidosis type IX
3378	Inflammatory bowel disease-2
337891	Mental retardation, X-linked, with epilepsy
337892	Migraine, familial typical
337893	Bulimia nervosa, susceptibility to
337894	Leprosy, susceptibility to
337895	Body mass index
338	Abetalipoproteinemia
338	Hypercholesterolemia, due to ligand-defective apo B
338	Hypobetalipoproteinemia
338026	Body mass index
338027	Bone mineral density variation 2
338030	Glioma of brain
3383	Malaria, cerebral, susceptibility to
338329	Hyperuricemic nephropathy, familial juvenile
338330	Charcot-Marie-Tooth disease, dominant intermediate 1
338331	Azoospremia, nonobstructive
338332	Gluten-sensitive enteropathy, susceptibility to
338333	Polydactyly, postaxial, type A3
338334	Coronary heart disease, susceptibility to
338335	Deafness, autosomal dominant 44
338340	Malignant mesothelioma, susceptibility to
338341	Vitamin D-dependent coagulation defect 2
338342	Migraine, susceptibility to, 4
338343	Psoriatic arthritis, susceptibility to
338378	Spastic paraplegia-15
338386	Handedness
338404	Gaze palsy, horizontal, with progressive scoliosis
338447	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
338464	Epilepsy, idiopathic generalized, susceptibility to
3387	Convulsions, infantile and paroxysmal choreoathetosis
3389	Ichthyosis, lamellar, type 2
34	Acyl-CoA dehydrogenase, medium chain, deficiency of
3401	Diabetes mellitus, insulin-dependent, 2
3402	Diabetes mellitus, insulin-dependent, 3
3403	Diabetes mellitus, insulin-dependent, 4
3404	Diabetes mellitus, insulin-dependent, 5
3405	Diabetes mellitus, insulin-dependent, 6
3406	Diabetes mellitus, insulin-dependent, 7
3407	Diabetes mellitus, insulin-dependent, 8
3409	Diabetes mellitus, insulin-dependent, 10
3410	Diabetes mellitus, insulin-dependent, 11
3411	Diabetes mellitus, insulin-dependent, 12
3412	Diabetes mellitus, insulin-dependent, 13
3414	Diabetes mellitus, insulin-dependent, 15
3423	Mucopolysaccharidosis II
3425	Mucopolysaccharidosis Ih
3425	Mucopolysaccharidosis Ih/s
3425	Mucopolysaccharidosis Is
3426	C3b inactivator deficiency
3439	Interferon, alpha, deficiency
344	Hyperlipoproteinemia, type Ib
345	Hypertriglyceridemia
3458	Interferon, immune, deficiency
3458	TSC2 angiomyolipomas, renal, modifier of
3459	BCG infection, generalized familial
3459	H. pylori infection, susceptibility to
3459	Mycobacterial infection, atypical, familial disseminated
3459	Tuberculosis, susceptibility to
3460	Mycobacterial infection, atypical, familial disseminated
3477	Atopy
3478	Allergy and asthma susceptibility
3479	Growth retardation with deafness and mental retardation
348	Hyperlipoproteinemia, type III
348	Myocardial infarction susceptibility
348	Sea-blue histiocyte disease
3482	Hepatocellular carcinoma
35	Acyl-CoA dehydrogenase, short-chain, deficiency of
350	Apolipoprotein H deficiency
3501	IgG2 deficiency, selective
3507	Agammaglobulinemia
3508	Spinal muscular atrophy with respiratory distress
351	Alzheimer disease-1, APP-related
351	Amyloidosis, cerebroarterial, Dutch type
351	Schizophrenia, chronic
3514	Kappa light chain deficiency
353	Urolithiasis, 2,8-dihydroxyadenine
3543	Agammaglobulinemia, autosomal recessive
355	Autoimmune lymphoproliferative syndrome
355	Squamous cell carcinoma, burn scar-related, somatic
3558	Severe combined immunodeficiency due to IL2 deficiency
3559	Interleukin-2 receptor, alpha chain, deficiency of
356	Systemic lupus erythematosus, susceptibility
3561	Combined immunodeficiency, X-linked, moderate
3561	Severe combined immunodeficiency, X-linked
3566	Atopy, susceptibility to
3569	Kaposi sarcoma, susceptibility to
3569	Osteopenia/osteoporosis
3575	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
358	Aquaporin-1 deficiency
358	Colton blood group
359	Diabetes insipidus, nephrogenic, autosomal dominant
359	Diabetes insipidus, nephrogenic, autosomal recessive
3593	BCG and salmonella infection, disseminated
3594	Mycobacterial and salmonella infections, susceptibility to
3596	Asthma, susceptibility to
360	Blood group GIL
3614	Retinitis pigmentosa-10
3621	Squamous cell carcinoma, head and neck
3630	Diabetes mellitus, rare form
3630	MODY, one form
3640	Cryptorchidism, idiopathic
3643	Diabetes mellitus, insulin-resistant, with acanthosis nigricans
3643	Leprechaunism
3643	Rabson-Mendenhall syndrome
3648	Spinocerebellar ataxia, infantile-onset, with sensory neuropathy
3651	Diabetes mellitus, type II, susceptibility to
3651	MODY, type IV
3651	Pancreatic agenesis
3655	Epidermolysis bullosa, junctional, with pyloric stenosis
3659	Gastric cancer
3659	Macrocytic anemia, refractory, of 5q- syndrome
3659	Myelodysplastic syndrome, preleukemic
3659	Myelogenous leukemia, acute
3659	Nonsmall cell lung cancer
3662	Multiple myeloma
3664	Popliteal pterygium syndrome
3664	van der Woude syndrome
3667	Diabetes mellitus, noninsulin-dependent
367	Androgen insensitivity
367	Breast cancer, male, with Reifenstein syndrome
367	Perineal hypospadias
367	Prostate cancer
367	Prostate cancer, susceptibility to
367	Spinal and bulbar muscular atrophy of Kennedy
3673	Glycoprotein Ia deficiency
3673	Neonatal alloimmune thrombocytopenia
3674	Glanzmann thrombasthenia, type A
3674	Thrombocytopenia, neonatal alloimmune
3679	Myopathy, congenital
368	Pseudoxanthoma elasticum, autosomal dominant
368	Pseudoxanthoma elasticum, autosomal recessive
3689	Leukocyte adhesion deficiency
3690	Glanzmann thrombasthenia, type B
3691	Epidermolysis bullosa, generalized atrophic benign
3691	Epidermolysis bullosa, junctional, with pyloric atresia
37	VLCAD deficiency
3704	Inosine triphosphatase deficiency
3718	SCID, autosomal recessive, T-negative/B-positive type
3719	Jacobsen syndrome
3722	Periodontitis, juvenile
3728	Naxos disease
3730	Kallmann syndrome
3732	Prostate cancer, susceptibility to
3736	Episodic ataxia/myokymia syndrome
3753	Jervell and Lange-Nielsen syndrome
3753	Long QT syndrome-5
3757	Long QT syndrome-2
3758	Bartter syndrome, antenatal
3759	Long QT syndrome-7
3767	Persistent hyperinsulinemic hypoglycemia of infancy
3784	Atrial fibrillation, familial
3784	Jervell and Lange-Nielsen syndrome
3784	Long QT syndrome-1
3785	Epilepsy, benign, neonatal, type 1
3785	Myokymia with neonatal epilepsy
3786	Epilepsy, benign neonatal, type 2
3789	Leber congenital amaurosis
3791	Hemangioma, capillary infantile, somatic
3794	Keratosis follicularis spinulosa decalvans
3795	Fructosuria
3798	Spastic paraplegia 10
38	3-ketothiolase deficiency
3815	Gastrointestinal stromal tumors
3815	Germ cell tumors
3815	Mast cell leukemia
3815	Mastocytosis with associated hematologic disorder
3815	Piebaldism
3818	Fletcher factor deficiency
3827	Kininogen deficiency
383	Argininemia
3845	Colorectal adenoma
3845	Colorectal cancer
3848	Cyclic ichthyosis with epidermolytic hyperkeratosis
3848	Epidermolytic hyperkeratosis
3848	Ichthyosis histrix, Curth-Macklin type
3848	Keratosis palmoplantaria striata
3848	Keratosis palmoplantaris striata III
3848	Unna-Thost disease, nonepidermolytic
3849	Ichthyosis bullosa of Siemens
3850	Meesmann corneal dystrophy
3851	White sponge nevus
3852	Epidermolysis bullosa simplex with mottled pigmentation
3852	Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760
3853	Pachyonychia congenita, Jadassohn-Lewandowsky type
3854	Pachyonychia congenita, Jackson-Lawler type
3856	Cirrhosis, cryptogenic
3857	Epidermolytic palmoplantar keratoderma
3858	Epidermolytic hyperkeratosis
3858	Ichthyosis, cyclic, with epidermolytic hyperkeratosis
3858	Nevus, epidermal, epidermolytic hyperkeratotic type
3859	Meesmann corneal dystrophy
3860	White sponge nevus
3861	Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760
3861	Epidermolysis bullosa simplex, recessive
3868	Pachyonychia congenita, Jadassohn-Lewandowsky type
3868	Palmoplantar keratoderma, nonepidermolytic
3868	Palmoplantar verrucous nevus, unilateral
3872	Pachyonychia congenita, Jackson-Lawler type
3872	Steatocystoma multiplex
3875	Liver disease, susceptibility to, from hepatotoxins or viruses
3887	Monilethrix
3892	Monilethrix
3896	Keratolytic winter erythema
3897	CRASH syndrome
3897	Hydrocephalus due to aqueductal stenosis
3897	Hydrocephalus with Hirschsprung disease and cleft palate
3897	MASA syndrome
3908	Muscular dystrophy, cogenital, due to partial LAMA2 deficiency
3908	Muscular dystrophy, congenital merosin-deficient
3909	Epidermolysis bullosa, generalized atrophic benign
3909	Epidermolysis bullosa, junctional, Herlitz type
3914	Epidermolysis bullosa, Herlitz junctional type
3914	Epidermolysis bullosa, generalized atrophic benign
3918	Epidermolysis bullosa, Herlitz junctional type
3918	Epidermolysis bullosa, generalized atrophic benign
3920	Glycogen storage disease IIb
3930	Pelger-Huet anomaly
3931	Fish-eye disease
3931	Norum disease
3932	SCID due to LCK deficiency
3938	Hypolactasia, adult type
3939	Exertional myoglobinuria due to deficiency of LDH-A
3945	Lactate dehydrogenase-B deficiency
3949	Hypercholesterolemia, familial
3952	Obesity, morbid, with hypogonadism
3952	Obesity, severe, due to leptin deficiency
3953	Obesity, morbid, with hypogonadism
3966	Langer-Giedion syndrome
3968	Muscular dystrophy, limb-girdle, type 1B
3972	Hypogonadism, hypergonadotropic
3972	Male pseudohermaphroditism due to defective LH
3973	Hypogonadotropic hypogonadism
3973	Leydig cell adenoma, with precocious puberty
3973	Micropenis
3973	Precocious puberty, male
3973	Pseudohermaphroditism, male, with Leydig cell hypoplasia
3978	DNA ligase I deficiency
3981	LIG4 syndrome
3982	Cataract, cortical pulverulent, late-onset
3988	Cholesteryl ester storage disease
3988	Wolman disease
3990	Hepatic lipase deficiency
3998	Combined factor V and VIII deficiency
4000	Cardiomyopathy, dilated, 1A
4000	Charcot-Marie-Tooth disease, type 2B1
4000	Emery-Dreifuss muscular dystrophy, AD
4000	Emery-Dreifuss muscular dystrophy, AR
4000	Lipodystrophy, familial partial
4000	Mandibuloacral dysplasia
4000	Muscular dystrophy, limb-girdle, type 1B
4004	Leukemia, T-cell acute lymphoblastic
4005	Leukemia, acute T-cell
401	Fibrosis of extraocular muscles, congenital, 2
4010	Nail-patella syndrome
4010	Nail-patella syndrome with open-angle glaucoma
4014	Erythrokeratoderma, progressive symmetric
4014	Vohwinkel syndrome with ichthyosis
4015	Cutis laxa, recessive, type I
4018	Coronary artery disease, susceptibility to
4023	Chylomicronemia syndrome, familial
4023	Combined hyperlipemia, familial
4023	Hyperlipoproteinemia I
4023	Lipoprotein lipase deficiency
4026	Leukemia, myeloid
4026	Lipoma
404	Macular degeneration, age-related, 1
4041	Bone mineral density variability 1
4041	Hyperostosis, endosteal
4041	Osteopetrosis, autosomal dominant, type I
4041	Osteoporosis-pseudoglioma syndrome
4041	van Buchem disease, type 2
4044	Larsen syndrome, autosomal dominant
4049	Myocardial infarction, susceptibility to
405	Leukemia, acute myeloblastic
4056	Leukotriene C4 synthase deficiency
4066	Leukemia, T-cell acute lymphoblastoid
4068	Lymphoproliferative syndrome, X-linked
4069	Amyloidosis, renal
4070	Corneal dystrophy, gelatinous drop-like
4080	Lenz microphthalmia syndrome
4089	Pancreatic cancer
4089	Polyposis, juvenile intestinal
4095	Bipolar affective disorder
410	Metachromatic leukodystrophy
411	Maroteaux-Lamy syndrome, several forms
412	Ichthyosis, X-linked
412	Placental steroid sulfatase deficiency
4125	Mannosidosis, alpha-, types I and II
4126	Mannosidosis, beta-
4128	Brunner syndrome
4137	Dementia, Pick disease-like
4137	Dementia, frontotemporal, with parkinsonism
4137	Pallidopontonigral degeneration
4137	Parkinson disease, late-onset
4137	Supranuclear palsy, progressive
4137	Supranuclear palsy, progressive atypical
4143	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
4143	Methionine adenosyltransferase deficiency, autosomal recessive
4148	Epiphyseal dysplasia, multiple, 5
415	Chondrodysplasia punctata, X-linked recessive
4153	Chronic infections, due to opsonin defect
4153	Meningococcal disease, susceptibility to
4157	Red hair/fair skin
4157	UV-induced skin damage, vulnerability to
4158	Glucocorticoid deficiency, due to ACTH unresponsiveness
4159	Obesity, severe, susceptibility to
4160	Obesity, autosomal dominant
4163	Colorectal cancer
4166	Macular corneal dystrophy
4167	Macular dystrophy, North Carolina type
4169	Medullary cystic kidney disease 1
4179	Measles, susceptibility to
4181	Microcephaly, autosomal recessive 2
4183	Mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches
4186	Miller-Dieker lissencephaly syndrome
4195	Muscular dystrophy with rimmed vacuoles
4197	Myelodysplasia syndrome-1
420	Dombrock blood group
4202	Myopathy, X-linked, with excessive autophagy
4204	Angelman syndrome
4204	Mental retardation, X-linked, nonspecific
4204	Mental retardation, X-linked, with progressive spasticity
4204	PPM-X syndrome
4204	Rett syndrome
4204	Rett syndrome, preserved speech variant
4210	Familial Mediterranean fever
422	Arrhythmogenic right ventricular dysplasia-1
4221	Adrenal adenoma, sporadic
4221	Angiofibroma, sporadic
4221	Carcinoid tumor of lung
4221	Hyperparathyroidism, AD
4221	Lipoma, sporadic
4221	Multiple endocrine neoplasia I
4221	Parathyroid adenoma, sporadic
4221	Prolactinoma, hyperparathyroidism, carcinoid syndrome
423	Arrhythmogenic right ventricular dysplasia-2
4233	Hepatocellular carcinoma, childhood type
4233	Renal cell carcinoma, papillary, familial and sporadic
424	Arrhythmogenic right ventricular dysplasia-3
4243	Marfan-like connective tissue disorder
4247	Carbohydrate-deficient glycoprotein syndrome, type II
425	Arrhythmogenic right ventricular dysplasia-4
4251	Megalocornea, X-linked
4256	Keutel syndrome
426	Ankylosing spondylitis
4261	MHC class II deficiency, complementation group A
4264	Malignant hyperthermia susceptibility 2
4265	Malignant hyperthermia susceptibility 4
4266	Malignant hyperthermia susceptibility 6
427	Farber lipogranulomatosis
428	Bardet-Biedl syndrome 5
4281	Opitz G syndrome, type I
4284	Cataract, polymorphic and lamellar
4286	Tietz syndrome
4286	Waardenburg syndrome, type IIA
4286	Waardenburg syndrome/ocular albinism, digenic
4287	Machado-Joseph disease
4290	Meckel syndrome, type 1
4291	Leukemia, myeloid, acute
4292	Cafe-au-lait spots with glioma or leukemia
4292	Colorectal cancer, hereditary nonpolyposis, type 2
4292	Muir-Torre syndrome
4292	Turcot syndrome with glioblastoma
4297	Leukemia, myeloid/lymphoid or mixed-lineage
4306	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
4306	Pseudohypoaldosteronism type I, autosomal dominant
4307	Microphthalmia with linear skin defects
4307	Microphthalmia, dermal aplasia, and sclerocornea
431	Atrial septal defect, secundum type
4311	Membranous glomerulonephritis, antenatal
4311	Neutral endopeptidase deficiency
4313	Osteolysis, idiopathic, Saudi type
4314	Coronary heart disease, susceptibility to
4329	Methylmalonate semialdehyde dehydrogenase deficiency
4330	Meningioma
4333	Goiter, multinodular, 1
4337	Molybdenum cofactor deficiency, type A
4338	Molybdenum cofactor deficiency, type B
4347	Myopathy, distal
435	Argininosuccinicaciduria
4351	Carbohydrate-deficient glycoprotein syndrome, type Ib
4352	Thrombocytopenia, congenital amegakaryocytic
4353	Myeloperoxidase deficiency
4359	Charcot-Marie-Tooth neuropathy-1B
4359	Dejerine-Sottas disease, myelin P-zero-related
4359	Hypomyelination, congenital
4361	Ataxia-telangiectasia-like disorder
4364	Mental retardation-skeletal dysplasia
4365	Mental retardation, X-linked, 1
4367	Mental retardation, X-linked, 2
4373	Mental retardation, X-linked 9
4378	Mental retardation, X-linked 14
4384	Mental retardation, X-linked 20
4385	Mental retardation, X-linked, 21
4387	Mental retardation, X-linked 23, nonspecific
4393	Mental retardation, X-linked 29
4406	Mental retardation, X-linked nonspecific, 42
4412	Mental retardation, X-linked-49
4413	Mental retardation, X-linked nonspecific, type 50
4416	Mental retardation, X-linked-53
4421	Mental retardation, X-linked nonspecific, 58
4429	Mental retardation, X-linked, syndromic 7
443	Canavan disease
4436	Cafe-au-lait spots, multiple, with leukemia
4436	Colorectal cancer, hereditary nonpolyposis, type 1
4436	Glioblastoma, early-onset
4436	Lymphoma, T-cell
4436	Muir-Torre syndrome
4436	Ovarian cancer
4437	Endometrial carcinoma
445	Citrullinemia
4481	Prostate cancer, hereditary
4484	Basal cell carcinoma
4484	Epithelioma, self-healing, squamous 1, Ferguson-Smith type
4487	Hypodontia with orofacial cleft
4487	Hypodontia, autosomal dominant
4487	Witkop syndrome
4488	Craniosynostosis, type 2
4488	Parietal foramina 1
4522	Neural tube defects, maternal risk of
4522	Spina bifida
4524	Homocystinuria due to MTHFR deficiency
4534	Myotubular myopathy, X-linked
4547	Abetalipoproteinemia
4548	Methylcobalamin deficiency, cblG type
4548	Spina bifida, risk of}, 601634
4552	Homocystinuria-megaloblastic anemia, cbl E type
4552	Spina bifida, risk of}, 601634
4584	Ulcerative colitis, susceptibility to
4591	Mulibrey nanism
4594	Methylmalonicaciduria, mutase deficiency type
4595	Adenomas, multiple colorectal
4598	Hyper-IgD syndrome
4598	Mevalonicaciduria
4601	Neurofibrosarcoma
4601	Prostate cancer, susceptibility to
4607	Cardiomyopathy, familial hypertrophic, 4
4609	Burkitt lymphoma
4618	Becker muscular dystrophy modifier
4618	Myopathy, centronuclear
462	Antithrombin III deficiency
4620	Inclusion body myopathy-3
4624	Cardiomyopathy, familial hypertrophic
4625	Cardiomyopathy, dilated
4625	Cardiomyopathy, familial hypertrophic, 1
4625	Central core disease, one form
4627	Deafness, autosomal dominant 17
4627	Epstein syndrome
4627	Fechtner syndrome
4627	May-Hegglin anomaly
4627	Sebastian syndrome
4633	Cardiomyopathy, hypertrophic, mid-left ventricular chamber type
4634	Cardiomopathy, hypertrophic, mid-ventricular chamber type
464	Cerebellar ataxia, Cayman type
4644	Griscelli syndrome, type 1
4646	Deafness, autosomal dominant 22
4647	Deafness, autosomal dominant 11, neurosensory
4647	Deafness, autosomal recessive 2, neurosensory
4647	Usher syndrome, type 1B
4653	Glaucoma 1A, primary open angle, juvenile-onset
4653	Glaucoma 1A, primary open angle, recessive
4653	Glaucoma, early-onset, digenic
4657	Bornholm eye disease
4657	Myopia-1
4658	Myopia-2
4668	Kanzaki disease
4668	NAGA deficiency, mild
4668	Schindler disease
4669	Sanfilippo syndrome, type B
4672	Cowchock syndrome
4683	Leukemia, acute lymphoblastic
4683	Nijmegen breakage syndrome
4687	Chronic granulomatous disease due to deficiency of NCF-1
4688	Chronic granulomatous disease due to deficiency of NCF-2
4692	Prader-Willi syndrome
4693	Coats disease
4693	Exudative vitreoretinopathy, X-linked
4693	Norrie disease
470	Atherosclerosis, susceptibility to
4703	Nemaline myopathy 2, autosomal recessive
4719	Lactic acidosis due to defect in iron-sulfur cluster of complex I
4719	Mitochondrial complex I deficiency
472	Ataxia-telangiectasia
472	Breast cancer, susceptibility to
472	Lymphoma, B-cell non-Hodgkin, somatic
472	Lymphoma, mantle cell
472	T-cell prolymphocytic leukemia, sporadic
4723	Alexander disease
4723	Leigh syndrome
4724	Complex I deficiency
4724	Leigh syndrome
4727	Leigh syndrome
4728	Leigh syndrome
4729	Parkinson disease, susceptibility to
4744	Amyotrophic lateral sclerosis, susceptibility to
4747	Charcot-Marie-Tooth disease, type 2E
4758	Sialidosis, type I
4758	Sialidosis, type II
4760	Diabetes mellitus, noninsulin-dependent
4763	Leukemia, juvenile myelomonocytic
4763	Melanoma, desmoplastic neurotropic
4763	Neurofibromatosis, familial spinal
4763	Neurofibromatosis, type 1
4763	Watson syndrome
477	Migraine, familial hemiplegic, 2
4771	Meningioma, NF2-related, somatic
4771	Neurofibromatosis, type 2
4771	Schwannomatosis
4795	Rheumatoid arthritis, susceptibility to
4810	Nance-Horan syndrome
4813	Diabetes mellitus, noninsulin-dependent, 2
4830	Neuroblastoma
4838	Situs ambiguus
4843	Hypertension, susceptibility to
4843	Malaria, resistance to
4846	Coronary spasm, susceptibility to
4846	Preeclampsia, susceptibility to
4851	Leukemia, T-cell acute lymphoblastic
4854	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
486	Hypomagnesemia-2, renal
4860	Nucleoside phosphorylase deficiency, immunodeficiency due to
4864	Niemann-Pick disease, type C1
4864	Niemann-Pick disease, type D
4867	Nephronophthisis, juvenile
4867	Senior-Loken syndrome-1
4868	Nephrosis-1, congenital, Finnish type
4869	Leukemia, acute promyelocytic, NPM/RARA type
487	Brody myopathy
488	Acrokeratosis verruciformis
488	Darier disease
4893	Colorectal cancer
4901	Retinitis pigmentosa, autosomal dominant
4902	Hirschsprung disease
4914	Insensitivity to pain, congenital, with anhidrosis
4914	Medullary thyroid carcinoma, familial
4920	Brachydactyly, type B1
4920	Robinow syndrome, autosomal recessive
4926	Leukemia, acute promyelocytic, NUMA/RARA type
4928	Leukemia, lymphycytic, acute T-cell
4929	Parkinson disease
4932	Nystagmus 1, congenital
4933	Nystagmus-2, autosomal dominant
4935	Ocular albinism, Nettleship-Falls type
4937	Osteoarthritis susceptibility, female-specific
4941	Ocular albinism with sensorineural deafness
4942	Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive
4948	Albinism, brown oculocutaneous,
4948	Albinism, ocular, autosomal recessive
4948	Albinism, oculocutaneous, type II
4952	Lowe syndrome
4963	Orofacial cleft-1
4964	Orofacial cleft-2
4965	Orofacial cleft-3
4967	Alpha-ketoglutarate dehydrogenase deficiency
4968	Renal cell carcinoma, clear cell
4976	Glaucoma, normal tension, susceptibility to
4976	Optic atrophy 1
4977	Optic atrophy, X-linked
4979	Otopalatodigital syndrome, type I
4979	Otopalatodigital syndrome, type II
4982	Paget disease, juvenile
4983	Mental retardation, X-linked, 60
4988	Response to morphine-6-glucuronide
5002	Breast cancer
5002	Lung cancer
5002	Rhabdomyosarcoma
5009	Ornithine transcarbamylase deficiency
5012	Otosclerosis 1
5019	Ketoacidosis due to SCOT deficiency
5023	Bleeding due to platelet ADP receptor defect
5027	Leukemia, chronic lymphatic, susceptibility to
5048	Lissencephaly-1
5048	Subcortical laminar heterotopia
50485	Schimke immunoosseous dysplasia
50506	Hypothyroidism, congenital, due to DUOX2 deficiency
50514	Esophageal squamous cell carcinoma
5053	Hyperphenylalaninemia, mild
5053	Phenylketonuria
5054	Hemorrhagic diathesis due to PAI1 deficiency
5054	Thrombophilia due to excessive plasminogen activator inhibitor
50608	Inflammatory bowel disease-4
50615	Lymphoma, diffuse large B-cell
50617	Renal tubular acidosis, distal, autosomal recessive
5063	Mental retardation, X-linked 30
50644	Mental retardation, X-linked, Shashi type
5071	Parkinson disease, juvenile, type 2
50715	Epilepsy, juvenile myoclonic
5072	Parkinson disease, familial
5076	Optic nerve coloboma with renal disease
5076	Renal hypoplasia, isolated
5077	Craniofacial-deafness-hand syndrome
5077	Rhabdomyosarcoma, alveolar
5077	Waardenburg syndrome, type I
5077	Waardenburg syndrome, type III
5079	Lymphoplasmacytoid lymphoma
5080	Aniridia, type II
5080	Cataract, congenital, with late-onset corneal dystrophy
5080	Ectopia pupillae
5080	Eye anomalies, multiplex
5080	Foveal hypoplasia, isolated
5080	Keratitis
5080	Peters anomaly
5081	Rhabdomyosarcoma, alveolar
50814	CHILD syndrome
50818	Paroxysmal kinesigenic choreoathetosis
50819	Brachydactyly, type A1
50820	Cleft palate, isolated
50821	Somatotrophinoma
50822	HDR syndrome
50823	Hypotrichosis, Marie Unna type
50826	Triphalangeal thumb-polysyndactyly syndrome
50828	Chorioathetosis with mental retardation and abnormal behavior
50829	Hodgkin disease susceptibility, pseudoautosomal
5083	Hypodontia
5083	Oligodontia
50830	Testicular germ cell tumor
50846	Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy
5087	Leukemia, acute pre-B-cell
5091	Pyruvate carboxylase deficiency
5092	Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase deficiency
50941	Inflammatory bowel disease-5
50942	Inflammatory bowel disease-6
50943	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
50945	Cleft palate with ankyloglossia
50946	Fibrodysplasia ossificans progressiva
50947	Hip dysplasia, Beukes type
50948	Orthostatic hypotensive disorder of Streeten
50949	Hyper-IgE syndrome
5095	Propionicacidemia
50951	Mitral valve prolapse, familial
50952	Motor neuronopathy, distal hereditary, with vocal cord paralysis
50955	Joubert syndrome-1
50956	Hydatidiform mole
50957	Hydrolethalus syndrome
5096	Propionicacidemia
50960	Moyamoya disease
50963	Bruck syndrome
50964	Sclerosteosis
50966	Epilepsy, childhood absence, 1
50968	Epilepsy, myoclonic, benign adult familial
50969	Cataract, polymorphic congenital
50970	Nonsmall cell lung cancer
50971	Epilepsy, nocturnal frontal lobe, type 2
50973	Pseudohypoparathyroidism, type IB
50975	Thyroid carcinoma, nonmedullary, with cell oxyphilia
50976	Graves disease, susceptibility to, 2
50977	Spastic cerebral palsy, symmetric
50979	Mental health wellness-2
50980	Prostate cancer-brain cancer susceptibility
50981	Myopathy, proximal, with early respiratory muscle involvement
50982	Diabetes mellitus, noninsulin-dependent
50983	Hypercholesterolemia, familial, 3
50984	Congenital cataract, facial dysmorphism, and neuropathy syndrome
50986	Hypertension, essential, susceptibility to, 2
50987	Epilepsy, partial, with variable foci
50988	Welander distal myopathy
50989	Neuropathy, hereditary motor and sensory, Okinawa type
50990	Ichthyosis, lamellar, type 3
50991	Chanarin-Dorfman syndrome
50992	Ichthyosis, nonlamellar and nonerythrodermic, congenital
51	Adrenoleukodystrophy, pseudoneonatal
5104	Protein C inhibitor deficiency
51062	Spastic paraplegia-3A
5108	Thyroid carcinoma, papillary
51119	Shwachman-Diamond syndrome
51151	Oculocutaneous albinism, type IV
51168	Deafness, autosomal recessive 3
5122	Obestiy with impaired prohormone processing
51251	Anemia, hemolytic, due to UMPH1 deficiency
51422	Cardiomyopathy, hypertrophic, with WPW
51422	Wolff-Parkinson-White syndrome
5145	Retinitis pigmentosa, autosomal recessive
5155	Dermatofibrosarcoma protuberans
5155	Giant-cell fibroblastoma
5155	Meningioma, SIS-related
5157	Colorectal cancer
5157	Hepatocellular cancer
5158	Night blindness, congenital stationary, type 3
5158	Retinitis pigmentosa, autosomal recessive
5159	Myelomonocytic leukemia, chronic
5159	Myeloproliferative disorder with eosinophilia
51592	Thyroid carcinoma, papillary
5160	Pyruvate dehydrogenase deficiency
5167	Ossification of posterior longitudinal ligament of spine
51684	Medulloblastoma, desmoplastic
5171	Partington syndrome II
5172	Deafness, autosomal recessive 4
5172	Enlarged vestibular aqueduct
5172	Pendred syndrome
51738	Obesity, susceptibility to
51741	Esophageal squamous cell carcinoma
5177	Preeclampsia
51785	Schizophrenia
5184	Prolidase deficiency
5189	Adrenoleukodystrophy, neonatal
5189	Refsum disease, infantile
5189	Zellweger syndrome-1
5190	Peroxisomal biogenesis disorder, complementation group 4
5190	Peroxisomal biogenesis disorder, complementation group 6
5191	Refsum disease
5191	Rhizomelic chondrodysplasia punctata, type 1
5192	Adrenoleukodystrophy, neonatal
5192	Zellweger syndrome
5193	Peroxisome biogenesis factor 12
5194	Adrenoleukodystrophy, neonatal
5194	Zellweger syndrome
5199	Properdin deficiency, X-linked
5205	Cholestasis, benign recurrent intrahepatic
5205	Cholestasis, progressive familial intrahepatic-1
5211	Hemolytic anemia due to phosphofructokinase deficiency
5213	Glycogen storage disease VII
5224	Myopathy due to phosphoglycerate mutase deficiency
5230	Hemolytic anemia due to PGK deficiency
5230	Myoglobinuria/hemolysis due to PGK deficiency
5235	Paragangliomas, familial nonchromaffin, 2
5242	Mental retardation, X-linked, syndromic-5, with Dandy-Walker malformation, basal ganglia disease, and seizures
5243	Colchicine resistance
5244	Cholestasis, familial intrahepatic, of pregnancy
5244	Cholestasis, progressive familial intrahepatic, type III
5245	Breast cancer, sporadic
525	Renal tubular acidosis with deafness
5251	Hypophosphatemia, hereditary
5255	Muscle glycogenosis
5256	Glycogenosis, X-linked hepatic, type I
5256	Glycogenosis, X-linked hepatic, type II
5257	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
5261	Glycogenosis, hepatic, autosomal
5263	Panhypopituitarism, X-linked
5264	Refsum disease
5265	Emphysema
5265	Emphysema-cirrhosis
5265	Hemorrhagic diathesis due to \`antithrombin' Pittsburgh
5274	Encephalopathy, familial, with neuroserpin inclusion bodies
5277	Paroxysmal nocturnal hemoglobinuria
5290	Ovarian cancer
5308	Iridogoniodysgenesis syndrome-2
5308	Rieger syndrome
5309	Anterior segment mesenchymal dysgenesis and cataract
5309	Cataract, congenital
5310	Polycystic kidney disease, adult type I
5311	Polycystic kidney disease, adult, type II
5313	Anemia, hemolytic, due to PK deficiency
5314	Polycystic kidney and hepatic disease
5317	Ectodermal dysplasia/skin fragility syndrome
5320	Colorectal cancer, resistance to
5325	Diabetes mellitus, transient neonatal
5327	Plasminogen activator deficiency
5330	Platelet PLC beta-2 deficiency
53341	Microhydranencephaly
53360	Oculodigitoesophagoduodenal syndrome
53361	Basal ganglia calcification, idiopathic
53362	Mental retardation, X-linked, South African type
53366	Hepatic fibrosis susceptibility due to Schistosoma mansoni infection
53368	Muscular dystrophy, congenital, 1B
53369	Huntington disease-like 3
5339	Epidermolysis bullosa simplex, Ogna type
5339	Muscular dystrophy with epidermolysis bullosa simplex
5340	Conjunctivitis, ligneous
5340	Plasminogen Tochigi disease
5340	Plasminogen deficiency, types I and II
5340	Thrombophilia, dysplasminogenemic
5345	Plasmin inhibitor deficiency
5351	Ehlers-Danlos syndrome, type VI
5354	Pelizaeus-Merzbacher disease
5354	Spastic paraplegia-2
53589	Dystonia-12
5371	Leukemia, acute promyelocytic, PML/RARA type
5373	Carbohydrate-deficient glycoprotein syndrome, type I
5376	Charcot-Marie-Tooth disease with deafness
5376	Charcot-Marie-Tooth neuropathy-1A
5376	Dejerine-Sottas disease
5376	Neuropathy, recurrent, with pressure palsies
5378	Colorectal cancer, hereditary nonpolyposis, type 3
538	Cutis laxa, neonatal
538	Menkes disease
538	Occipital horn syndrome
53904	Deafness, autosomal recessive 30
5395	Colorectal cancer, hereditary nonpolyposis, type 4
5395	Turcot syndrome with glioblastoma
540	Wilson disease
5405	Choreoathetosis, familial paroxysmal
5406	Pancreatic lipase deficiency
54109	Cone-rod dystrophy 8
54113	Vesicoureteral reflux
54114	Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula
54115	Ptosis, hereditary congenital 2
54117	Wolfram syndrome 2
54118	Colorectal cancer, hereditary nonpolyposis, type 7
54119	Epilepsy, myoclonic, infantile
54209	Presenile dementia with bone cysts
5421	Ovarian failure, premature
54222	Hypobetalipoproteinemia, familial, 2
5428	Progressive external ophthalmoplegia with mitochondrial DNA deletions
5429	Xeroderma pigmentosum, variant type
54332	Charcot-Marie-Tooth neuropathy-4A
54332	Neuropathy, axonal, with vocal cord paresis, autosomal recessive
54361	XY female
54362	Deafness, nonsyndromic, modifier 1
54413	Asperger syndrome
54413	Autism, X-linked
5443	ACTH deficiency
5443	Obesity, adrenal insufficiency, and red hair
5444	Coronary artery disease, susceptibility to
5444	Coronary artery spasm, susceptibility to
5445	Coronary artery disease, susceptibility to
5448	Porphyria, Chester type
5449	Pituitary hormone deficiency, combined
545	Seckel syndrome
54500	Spiegler-Brooke syndrome
5456	Deafness, X-linked 3, conductive, with stapes fixation
5459	Deafness, autosomal dominant 15
546	Alpha-thalassemia/mental retardation syndrome
546	Juberg-Marsidi syndrome
546	Smith-Fineman-Myers syndrome
546	Sutherland-Haan syndrome
54658	Crigler-Najjar syndrome, type I
54658	Crigler-Najjar syndrome, type II
54658	Gilbert syndrome
54658	Hyperbilirubinemia, familial transcient neonatal
5468	Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension
5468	Glioblastoma, susceptibility to
5468	Insulin resistance, severe, digenic
5468	Lipodystrophy, familial partial
5468	Obesity, resistance to
5468	Obesity, severe
54714	Achromatopsia-3
54719	Retinal nonattachment, nonsyndromic congenital
5476	Galactosialidosis
54808	Dyggve-Melchior-Clausen disease
54808	Smith-McCort dysplasia
54840	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
549	3-methylglutaconic aciduria, type I
54904	Leukemia, acute myeloid
5498	Porphyria variegata
54982	Ceroid-lipofuscinosis, neuronal-6, variant late infantile
5506	Insulin resistance, severe, digenic
551	Diabetes insipidus, neurohypophyseal
5519	Lung cancer
5521	Spinocerebellar ataxia 12
55212	Bardet-Biedl syndrome
55343	Congenital disorder of glycosylation, type IIc
5538	Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits
5538	Ceroid lipofuscinosis, neuronal-1, infantile
554	Diabetes insipidus, nephrogenic
5546	Renal cell carcinoma, papillary, 1
5551	Hemophagocytic lymphohistiocytosis, familial, 2
55624	Muscle-eye-brain disease
55630	Acrodermatitis enteropathica
55717	Glioblastoma
5573	Carney complex, type 1
5573	Myxoma, intracardiac
5573	Pigmented adrenocortical disease, primary isolated
5573	Thyroid carcinoma, papillary
55775	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
5578	Pituitary tumor, invasive
55806	Alopecia universalis
55806	Atrichia with papular lesions
55811	Hypercalciuria, absorptive, susceptibility to
5589	Polycystic liver disease
55997	Double-outlet right ventricle
55997	Heterotaxy, visceral
55997	Transposition of great arteries, dextro-looped
56002	Cardiomyopathy, dilated, 1J
56162	Ciliary diskinesia, primary, 2
56170	Nephrotic syndrome, idiopathic, steroid-resistant
56172	Chondrocalcinosis 2
56172	Craniometaphyseal dysplasia
56179	Systemic lupus erythematosus, susceptibility to, 2
5621	Creutzfeldt-Jakob disease
5621	Gerstmann-Straussler disease
5621	Huntington disease-like 1
5621	Insomnia, fatal familial
5621	Prion disease with protracted course
5624	Purpura fulminans, neonatal
5624	Thrombophilia due to protein C deficiency
5625	Hyperprolinemia, type I
5625	Schizophrenia, susceptibility to
5626	Pituitary hormone deficiency, combined
5627	Protein S deficiency
5631	Phosphoribosyl pyrophosphate synthetase-related gout
5640	Mental retardation, X-linked, syndromic-2, with dysmorphism and cerebral atrophy
5644	Pancreatitis, hereditary
5644	Trypsinogen deficiency
5649	Lissencephaly syndrome, Norman-Roberts type
5651	Enterokinase deficiency
5660	Combined SAP deficiency
5660	Gaucher disease, variant form
5660	Metachromatic leukodystrophy due to deficiency of SAP-1
5663	Alzheimer disease, familial, with spastic paraparesis and unusual plaques
5663	Alzheimer disease-3
5663	Alzheimer disease-3, early onset
5663	Dementia, frontotemporal
5664	Alzheimer disease-4
56652	Progressive external ophthalmoplegia with mitochondrial DNA deletions
56694	Obesity, susceptibility to
567	Hemodialysis-related amyloidosis
5674	Psoriasis, susceptibility to
56797	Hypertriglyceridemia, susceptibility to
56798	Hypotrichosis simplex of scalp
56800	Renal cell carcinoma, papillary, 3
56801	Hypoalphalipoproteinemia, primary
56830	Usher syndrome, type 2C
56922	3-Methylcrotonylglycinuria I
57013	Spinocerebellar ataxia-14
57042	Inflammatory bowel disease-7
57043	Spinocerebellar ataxia 16
57044	Diabetes mellitus, insulin-dependent, 18
57061	Diabetes mellitus, transient neonatal
57096	Leber congenital amaurosis
57152	Meleda disease
57167	Duane-radial ray syndrome
57190	Muscular dystrophy, rigid spine, 1
57192	Mucolipidosis IV
5722	Psoriasis, susceptibility to
5726	Phenylthiocarbamide tasting
5727	Basal cell carcinoma, somatic
5727	Basal cell nevus syndrome
5727	Holoprosencephaly-7
5728	Bannayan-Riley-Ruvalcaba syndrome
5728	Bannayan-Zonana syndrome
5728	Cowden disease
5728	Endometrial carcinoma
5728	Lhermitte-Duclos syndrome
5728	Meningioma
5728	Oligodendroglioma
5728	Prostate cancer
5728	Proteus-like syndrome
5728	Thyroid carcinoma, follicular
5728	VATER association with hydrocephalus
57306	Syndactyly, type 1
57309	Spastic paraplegia 14, autosomal recessive
57311	Carney complex, type II
57338	Huntington disease-like 2
57363	Spinocereballar ataxia-13
57379	Immunodeficiency with hyper-IgM, type 2
5740	Hypertension, essential
5741	Hypoparathyroidism, autosomal dominant
5741	Hypoparathyroidism, autosomal recessive
5745	Enchondromatosis, Ollier type
5745	Metaphyseal chondrodysplasia, Murk Jansen type
57502	Asperger syndrome
57502	Autism, X-linked
57591	Megakaryoblastic leukemia, acute
5765	Ptosis, hereditary congenital, 1
57679	Amyotrophic lateral sclerosis, juvenile
57679	Primary lateral sclerosis, juvenile
57679	Spastic paralysis, infantile onset ascending
5770	Insulin resistance, susceptibility to
57716	Dejerine-Sottas neuropathy, autosomal recessive
57760	Spastic paraplegia-16, X-linked, complicated
57788	Roifman syndrome
57789	Tuberculosis, susceptibility to
57790	Mental retardation syndrome, X-linked, Lubs type
57791	Mental retardation syndrome, X-linked, Armfield type
57792	Mental retardation syndrome, X-linked, Abidi type
57793	Mental retardation syndrome, X-linked, Siderius type
5781	Cardiofaciocutaneous syndrome
5781	Leopard syndrome
5781	Noonan syndrome 1
57817	Hemochromatosis, juvenile
5782	Colon cancer
5788	Multiple sclerosis, susceptibility to
5788	Severe combined immunodeficiency due to PTPRC deficiency
5795	Colon cancer, somatic
58	Myopathy, actin
58	Myopathy, nemaline, 161800
5803	H. pylori infection, susceptibility to
5805	Phenylketonuria due to PTS deficiency
581	Colorectal cancer
581	T-cell acute lymphoblastic leukemia
58156	Optic atrophy-4
5817	Polio, susceptibility to
5818	Cleft lip/palate ectodermal dysplasia syndrome
5818	Ectodermal dysplasia, Margarita Island type
5818	Zlotogora-Ogur syndrome
582	Bardet-Biedl syndrome 1
5821	Prader-Willi syndrome
5824	Zellweger syndrome
5825	Zellweger syndrome-2
5828	Refsum disease, infantile form
5828	Zellweger syndrome-3
583	Bardet-Biedl syndrome 2
5830	Adrenoleukodystrophy, neonatal
5830	Zellweger syndrome
5836	Glycogen storage disease VI
5837	McArdle disease
584	Bardet-Biedl syndrome 3
585	Bardet-Biedl syndrome 4
5860	Phenylketonuria due to dihydropteridine reductase deficiency
5873	Griscelli syndrome, type 2
5880	Neutrophil immunodeficiency syndrome
5888	Breast cancer, susceptibility to
5896	Omenn syndrome
5896	Reticulosis, familial histiocytic
5896	Severe combined immunodeficiency, B cell-negative
5897	Omenn syndrome
5897	Severe combined immunodeficiency, B cell-negative
58984	Angioneurotic edema, hereditary, X-linked
590	Apnea, postanesthetic
59081	Goiter, multinodular, 2
5910	Lymphocytic leukemia, acute T-cell
5913	Myasthenia syndrome, congenital
5914	Leukemia, acute promyelocytic
5921	Basal cell carcinoma
5925	Bladder cancer
5925	Osteosarcoma
5925	Pinealoma with bilateral retinoblastoma
5925	Retinoblastoma
593	Maple syrup urine disease, type Ia
59330	Gastroesophageal reflux
59331	Nephropathy-hypertension
59332	Turner syndrome-associated neurocognitive phenotype
59332	Visuospatial/perceptual abilities
59333	Neuropathy, motor and sensory, Russe type
59344	Ichthyosiform erythroderma, congenital, nonbullous, 1
594	Maple syrup urine disease, type Ib
595	Centrocytic lymphoma
595	Colorectal cancer, susceptibility to
595	Leukemia/lymphoma, B-cell, 1
595	Multiple myeloma
595	Parathyroid adenomatosis 1
595	von Hippel-Lindau disease, modification of
5950	Retinol binding protein, deficiency of
5956	Blue-cone monochromacy
5956	Colorblindness, protan
5959	Fundus albipunctatus
596	Leukemia/lymphoma, B-cell, 2
5961	Butterfly dystrophy, retinal
5961	Foveomacular dystrophy, adult-onset, with choroidal neovascularization
5961	Macular dystrophy
5961	Macular dystrophy, vitelliform
5961	Pattern dystrophy of retina
5961	Retinitis pigmentosa with bull's-eye maculopathy
5961	Retinitis pigmentosa, digenic
5961	Retinitis pigmentosa-7, peripherin-related
5961	Retinitis punctata albescens
5972	Hyperproreninemia
5974	Renpenning syndrome-1
5979	Central hypoventilation syndrome, congenital
5979	Colonic aganglionosis, total, with small bowel involvement
5979	Hirschsprung disease
5979	Medullary thyroid carcinoma
5979	Multiple endocrine neoplasia IIA
5979	Multiple endocrine neoplasia IIB
5993	Bare lymphocyte syndrome, type II, complementation group C
5993	Bare lymphocyte syndrome, type II, complementation group E
5994	Bare lymphocyte syndrome, type II, complementation group D
5995	Retinitis pigmentosa, autosomal dominant
5995	Retinitis pigmentosa, autosomal recessive
6005	Anemia, hemolytic, Rh-null, regulator type
6005	Rh-mod syndrome
6006	Rhesus blood group
6010	Night blindness, congenital stationery, rhodopsin-related
6010	Retinitis pigmentosa, autosomal recessive
6010	Retinitis pigmentosa-4, autosomal dominant
6011	Oguchi disease-2
6012	Rieger syndrome, type 2
6017	Bothnia retinal dystrophy
6017	Fundus albipunctatus
6017	Newfoundland rod-cone dystrophy
6017	Retinitis pigmentosa, AR
6017	Retinitis punctata albescens
602	Leukemia/lymphoma, B-cell, 3
6021	Achromatopsia-1
6022	Rippling muscle disease-1
6023	Cartilage-hair hypoplasia
6023	Metaphyseal dysplasia without hypotrichosis
60386	Microcephaly, Amish type
604	Lymphoma, B-cell
6041	Prostate cancer 1, 176807
60454	Parkinson disease 4, autosomal dominant, Lewy body
6049	Esophageal carcinoma, somatic
60497	Amyotrophic lateral sclerosis with frontotemporal dementia
60498	Nephropathy, IgA type
605	B-cell non-Hodgkin lymphoma, high-grade
60501	Cataract, posterior polar-3
60502	Cerebral palsy, ataxic, autosomal recessive
60503	Hypotrichosis simplex
60506	Night blindness, congenital stationary, type 1
60528	Prostate cancer, susceptibility to
60529	Parietal foramina 2
606	Lymphoma, diffuse large cell
6094	Retinitis pigmentosa, digenic
6100	Retinitis pigmentosa-9
6101	Retinitis pigmentosa-1
6102	Retinitis pigmentosa-2
6103	Cone dystrophy-1
6103	Cone-rod dystrophy
6103	Macular degeneration, X-linked atrophic
6103	Retinitis pigmentosa, X-linked, with recurrent respiratory infections
6103	Retinitis pigmentosa-3
6105	Retinitis pigmentosa-10
611	Colorblindness, tritan
6111	Retinitis pigmentosa-17
6114	Retinitis pigmentosa-22
6115	Retinitis pigmentosa 23
6116	Retinitis pigmentosa-24
6121	Leber congenital amaurosis-2
6121	Retinal dystrophy, autosomal recessive, childhood-onset
6121	Retinitis pigmentosa-20
613	Leukemia, chronic myeloid, Leukemia, acute lymphocytic
617	GRACILE syndrome
617	Tubulopathy, encephalopathy, and liver failure due to complex III deficiency
6197	Coffin-Lowry syndrome
6197	Mental retardation, X-linked nonspecific, type 19
6223	Anemia, Diamond-Blackfan
6247	Retinoschisis
626	Brachydactyly-mental retardation syndrome
6261	Central core disease
6261	Malignant hyperthermia susceptibility 1
6262	Arrhythmogenic right ventricular dysplasia 2
6262	Ventricular tachycardia, stress-induced polymorphic
627	Central hypoventilation syndrome, congenital
627	Memory impairment, susceptibility to
6295	Oguchi disease-1
6296	Hypertension, essential
6299	Townes-Brocks syndrome
6303	Keratosis follicularis spinulosa decalvans
6309	Lathosterolosis
6310	Spinocerebellar ataxia-1
6311	Spinocerebellar ataxia-2
6312	Spinocerebellar ataxia-4
6313	Spinocerebellar ataxia-5
6314	Spinocerebellar ataxia-7
6315	Spinocerebellar ataxia 8
6323	Epilepsy, generalized, with febrile seizures plus, type 2
6323	Myoclonic epilepsy, severe, of infancy
6324	Generalized epilepsy with febrile seizures plus
6325	Seizures, afebrile
6325	Seizures, benign familial neonatal-infantile
6329	Cramps, familial, potassium-aggravated
6329	Hyperkalemic periodic paralysis
6329	Hypokalemic periodic paralysis
6329	Myotonia congenita, atypical, acetazolamide-responsive
6329	Paramyotonia congenita
6331	Brugada syndrome
6331	Heart block, nonprogressive
6331	Heart block, progressive, type I
6331	Long QT syndrome-3
6331	Ventricular fibrillation, idiopathic
6337	Pseudohypoaldosteronism, type I
6338	Liddle syndrome
6338	Pseudohypoaldosteronism, type I
6340	Liddle syndrome
6340	Pseudohypoaldosteronism, type I
6341	Hepatic failure, early onset, and neurologic disorder
6352	HIV-1 disease, delayed progression of
6352	HIV-1 disease, rapid progression of
6365	Schizophrenia
6377	Schizophrenia
6378	Schizophrenia
6379	Schizophrenia
6380	Schizophrenia
63869	Psoriasis, susceptibility to
6387	AIDS, resistance to
63870	Psoriasis, susceptibility to
6389	Leigh syndrome
6390	Paraganglioma, familial malignant
6390	Pheochromocytoma, extraadrenal, and cervical paraganglioma
6391	Paragangliomas, familial nonchromaffin, 3
6392	Carcinoid tumors, intestinal
6392	Merkel cell carcinoma, somatic
6392	Paragangliomas, familial central nervous system
6392	Paragangliomas, familial nonchromaffin, 1, with and without deafness
6392	Pheochromocytoma
63944	Schizophrenia
6399	Spondyloepiphyseal dysplasia tarda
6401	Atherosclerosis, susceptibility to
6403	Platelet alpha/delta storage pool deficiency
64069	Dermatitis, atopic
64072	Deafness, autosomal recessive 12
64072	Usher syndrome, type 1D
64087	3-Methylcrotonylglycinuria II
641	Bloom syndrome
64127	Blau syndrome
64127	Crohn disease
642	Alzheimer disease, susceptibility to
64239	Radiation sensitivity/chromosome instability syndrome, autosomal dominant
64240	Sitosterolemia
64241	Sitosterolemia
64324	Leukemia, acute myeloid
64324	Sotos syndrome
64324	Weaver syndrome
64327	Acheiropody
6438	Klippel-Feil syndrome with laryngeal malformation
6439	Pulmonary alveolar proteinosis, congenital
6440	Pneumonitis, desquamative interstitial
64408	Spastic paraplegia-17
64414	Epilepsy, pyridoxine-dependent
6442	Adhalinopathy, primary
6442	Muscular dystrophy, Duchenne-like, type 2
6442	Muscular dystrophy, limb-girdle, type 2D
64421	Severe combined immunodeficiency, Athabascan type
6443	Muscular dystrophy, limb-girdle, type 2E
6444	Cardiomyopathy, dilated, 1L
6444	Muscular dystrophy, limb-girdle, type 2F
6445	Muscular dystrophy, limb-girdle, type 2C
6452	Cherubism
6455	Leukemia, acute myeloid
64585	Branchiootic syndrome 2
64587	Bietti crystalline corneoretinal dystrophy
64588	Craniometaphyseal dysplasia, autosomal recessive
64589	IMAGE syndrome
6463	Split hand/foot malformation, type 2
64644	Fibromatosis, gingival, 2
6467	Split hand/foot malformation, type 1
6468	Split hand/foot malformation, type 3
6469	Coloboma, ocular
6469	Holoprosencephaly-3
6469	Solitary median maxillary central incisor
64695	Systemic lupus erythematosus, susceptibility to, 3
64699	Deafness, autosomal recessive 10, congenital
64699	Deafness, autosomal recessive 8, childhood onset
6473	Langer mesomelic dysplasia
6473	Leri-Weill dyschondrosteosis
6473	Short stature, idiopathic familial
6476	Sucrose intolerance
64783	Megakaryoblastic leukemia, acute
64805	Platelet ADP receptor defect
64851	Alzheimer disease 6
6492	Obesity, severe
64944	Deafness, autosomal dominant 25
6496	Holoprosencephaly-2
6497	1p36 deletion syndrome
65014	Cardiomyopathy, dilated, 1K
65076	Abdominal obesity-metabolic syndrome
65077	Abdominal obesity-metabolic syndrome
65125	Pseudohypoaldosteronism, type IIC
6513	Glucose transport defect, blood-brain barrier
6514	Diabetes mellitus, noninsulin-dependent
6514	Fanconi-Bickel syndrome
6517	Diabetes mellitus, noninsulin-dependent
6519	Cystinuria
6519	Homozygous 2p16 deletion syndrome
6521	Acanthocytosis, one form
6521	Diego blood group
6521	Elliptocytosis, Malaysian-Melanesian type
6521	Hemolytic anemia due to band 3 defect
6521	Renal tubular acidosis, distal
6521	Spherocytosis, hereditary
65211	Fanconi renotubular syndrome
65215	Charcot-Marie-Tooth disease, type 2B2
65217	Usher syndrome, type 1F
6523	Glucose/galactose malabsorption
6524	Renal glucosuria
65245	Psoriasis, susceptibility to
65266	Pseudohypoaldosteronism type II
6528	Hypothyroidism, congenital
6530	Orthostatic intolerance
6531	Attention-deficit hyperactivity disorder, susceptibility to
6532	Anxiety-related personality traits
6535	Creatine deficiency syndrome, X-linked
6535	Mental retardation, X-linked, with seizures and carrier manifestations
6555	Bile acid malabsorption, primary
6556	Resistance/susceptibility to TB, etc.
6557	Bartter syndrome, antenatal
6559	Gitelman syndrome
657	Cowden-like syndrome
657	Polyposis, juvenile intestinal
6584	Carnitine deficiency, systemic primary
659	Pulmonary hypertension, familial primary
6598	Rhabdoid predisposition syndrome, familial
6598	Rhabdoid tumors
6606	Spinal muscular atrophy-1
6606	Spinal muscular atrophy-2
6606	Spinal muscular atrophy-3
6608	Basal cell carcinoma, sporadic
6622	Parkinson disease, familial
6638	Prader-Willi syndrome
6647	Amytrophic lateral sclerosis, due to SOD1 deficiency
6654	Fibromatosis, gingival
6657	Anophthalmia 3
6658	Mental retardation, X-linked, with isolated growth hormone deficiency
6662	Acampomelic campolelic dysplasia
6662	Campomelic dysplasia
6662	Campomelic dysplasia with autosomal sex reversal
6663	Waardenburg-Shah syndrome
6663	Waardenburg-Shah syndrome, neurologic variant
6663	Yemenite deaf-blind hypopigmentation syndrome
668	Blepharophimosis, epicanthus inversus, and ptosis, type 1
668	Blepharophimosis, epicanthus inversus, and ptosis, type 2
6683	Spastic paraplegia-4
6684	Spastic paraplegia-5A
6686	Spastic paraplegia-6
6687	Spastic paraplegia-7
669	Hemolytic anemia due to bisphosphoglycerate mutase deficiency
6690	Fibrocalculous pancreatic diabetes, susceptibility to
6690	Pancreatitis, hereditary
6697	Sepiapterin reductase deficiency
6708	Elliptocytosis-2
6708	Pyropoikilocytosis
6708	Spherocytosis, recessive
6710	Anemia, neonatal hemolytic, fatal and near-fatal
6710	Elliptocytosis-3
6710	Spherocytosis-1
6714	Colon cancer, advanced
6716	Pseudovaginal perineoscrotal hypospadias
672	Breast cancer-1
672	Breast-ovarian cancer
672	Ovarian cancer
672	Papillary serous carcinoma of the peritoneum
673	Adenocarcinoma of lung, somatic
673	Colorectal cancer, somatic
673	Melanoma, melignant, somatic
673	Nonsmall cell lung cancer, somatic
6735	Mental retardation, Snyder-Robinson type
6736	Gonadal dysgenesis, XY type
675	Breast cancer 2, early onset
675	Breast cancer, male, susceptibility to
675	Fanconi anemia, complementation group B
675	Fanconi anemia, complementation group D1
675	Pancreatic cancer
675	Prostate cancer
6756	Sarcoma, synovial
6757	Sarcoma, synovial
6759	Sarcoma, synovial
6760	Sarcoma, synovial
6762	Cervical carcinoma
6765	Ovarian cancer, serous
6766	Prostate adenocarcinoma
6770	Lipoid adrenal hyperplasia
6772	Mycobacterial infection, atypical, familial disseminated
6772	STAT1 deficiency, complete
6777	Leukemia, acute promyeloyctic, STAT5B/RARA type
6785	Macular dystrophy, autosomal dominant, chromosome 6-linked
6785	Stargardt disease 3
6794	Melanoma, malignant sporadic
6794	Pancreatic cancer, sporadic
6794	Peutz-Jeghers syndrome
682	Blood group OK
6821	Sulfite oxidase deficiency
6833	Persistent hyperinsulinemic hypoglycemia of infancy
6834	Leigh syndrome, due to COX deficiency
686	Biotinidase deficiency
6886	Leukemia-1, T-cell acute lymphocytic
6887	Leukemia-2, T-cell acute lymphoblastic
6888	Transaldolase deficiency
6891	Bare lymphocyte syndrome, type I, due to TAP2 deficiency
6892	Bare lymphocyte syndrome, type I
6893	Total anomalous pulmonary venous return
6898	Tyrosinemia, type II
6901	Barth syndrome
6901	Cardiomyopathy, X-linked dilated
6901	Endocardial fibroelastosis-2
6901	Noncompaction of left ventricular myocardium, isolated
6905	Hypoparathyroidism-retardation-dysmorphism syndrome
6905	Kenny-Caffey syndrome-1
6906	Euthyroidal hyper- and hypothyroxinemia
6908	Complex neurologic disorder
6908	Spinocerebellar ataxia 17
6910	Holt-Oram syndrome
6915	Bleeding disorder due to defective thromboxane A2 receptor
6916	Thromboxane synthase deficiency
6926	Ulnar-mammary syndrome
6927	Diabetes mellitus, insulin-dependent
6927	Diabetes mellitus, noninsulin-dependent, 2
6927	Hepatic adenoma
6927	MODY, type III
6928	Diabetes mellitus, noninsulin-dependent
6928	Glomerulocystic kidney disease, hypoplastic
6928	MODY, type V
6928	MODY5 with nephron agenesis
6928	MODY5 with non-diabetic renal disease and Mullerian aplasia
6929	Leukemia, acute lymphoblastic
6946	Leukemia/lymphoma, T-cell
6948	Transcobalamin II deficiency
6949	Treacher Collins mandibulofacial dysostosis
695	Agammaglobulinemia, type 1, X-linked
695	XLA and isolated growth hormone deficiency
6955	Leukemia/lymphoma, T-cell
699	Colorectal cancer with chromosomal instability
6997	Forebrain defects
70	Cardiomyopathy, dilated
70	Cardiomyopathy, familial hypertrophic
7007	Deafness, autosomal dominant 12
7007	Deafness, autosomal dominant 8
7007	Deafness, autosomal recessive 21
7010	Venous malformations, multiple cutaneous and mucosal
7012	Aplastic anemia
7012	Dyskeratosis congenita, autosomal dominant
7018	Atransferrinemia
7018	Iron deficiency anemia, susceptibility to
7021	Char syndrome
7030	Renal cell carcinoma, papillary, 1
7036	Hemochromatosis, type 3
7038	Goiter, adolescent multinodular
7038	Goiter, nonendemic, simple
7038	Hypothyroidism, hereditary congenital
7040	Camurati-Engelmann disease
7044	Left-right axis malformation
7045	Corneal dystrophy, Avellino type
7045	Corneal dystrophy, Groenouw type I
7045	Corneal dystrophy, Reis-Bucklers type
7045	Corneal dystrophy, lattice type I
7045	Corneal dystrophy, lattice type IIIA
7048	Colon cancer
7048	Colorectal cancer, hereditary nonpolyposis, type 6
7048	Esophageal cancer
7050	Holoprosencephaly-4
7051	Ichthyosiform erythroderma, congenital
7051	Ichthyosis, lamellar, autosomal recessive
7051	Self-healing collodion baby
7054	Segawa syndrome, recessive
7055	Thoracoabdominal syndrome
7056	Myocardial infarction, susceptibility to
7056	Thrombophilia due to thrombomodulin defect
7066	Thrombocythemia, essential
7068	Thyroid hormone resistance, 274300
7078	Sorsby fundus dystrophy
7080	Chorea, hereditary benign
7080	Goiter, familial, due to TTF-1 defect
7085	Goeminne TKCR syndrome
7086	Wernicke-Korsakoff syndrome, susceptibility to
7099	Endotoxin hyporesponsiveness
710	Angioedema, hereditary
7102	Mental retardation, X-linked nonspecific
712	C1q deficiency, type A
7124	Malaria, cerebral, susceptibility to
7124	Septic shock, susceptibility to
713	C1q deficiency, type B
7132	Periodic fever, familial
7136	Arthrogryposis multiplex congenita, distal, type 2B
7137	Cardiomyopathy, familial hypertrophic
7138	Nemaline myopathy, Amish type
7139	Cardiomyopathy, dilated, 1D
7139	Cardiomyopathy, familial hypertrophic, 2
714	C1q deficiency, type C
7148	Ehlers-Danlos-like syndrome
7149	Tylosis with esophageal cancer
715	C1r/C1s deficiency, combined
7157	Adrenal cortical carcinoma
7157	Breast cancer
7157	Colorectal cancer
7157	Hepatocellular carcinoma
7157	Histiocytoma
7157	Li-Fraumeni syndrome
7157	Multiple malignancy syndrome
7157	Nasopharyngeal carcinoma
7157	Osteosarcoma
7157	Pancreatic cancer
7157	Thyroid carcinoma
716	C1r/C1s deficiency, combined
716	C1s deficiency, isolated
7167	Hemolytic anemia due to triosephosphate isomerase deficiency
7168	Cardiomyopathy, familial hypertrophic, 3
7169	Arthrogryposis multiplex congenita, distal, type 1
717	C2 deficiency
7170	Nemaline myopathy 1, autosomal dominant
7172	6-mercaptopurine sensitivity
7173	Goiter, congenital
7173	Hyperthyroidism, congenital
7173	Thyroid hormone organification defect IIA
7173	Total iodide organification defect
718	C3 deficiency
720	C4 deficiency
7200	Thyrotropin-releasing hormone deficiency
721	C4 deficiency
7227	Trichorhinophalangeal syndrome, type I
7227	Trichorhinophalangeal syndrome, type III
7248	Focal cortical dysplasia, Taylor balloon cell type
7248	Lymphangioleiomyomatosis
7248	Tuberous sclerosis-1
7249	Lymphangioleiomyomatosis, somatic
7249	Tuberous sclerosis-2
7251	Breast cancer
7252	Hypothyroidism, nongoitrous
7253	Graves disease
7253	Hyperthroidism, congenital
7253	Hypothyroidism, congenital, due to TSH resistance
7253	Hypothyroidism, subclinical
7253	Thyroid adenoma, hyperfunctioning
727	C5 deficiency
7273	Cardiomyopathy, dilated, 1G, 604145, Tibial muscular dystrophy, tardive
7273	Cardiomyopathy, familial hypertrophic, 9
7274	Ataxia with isolated vitamin E deficiency
7276	Amyloid neuropathy, familial, several allelic types
7276	Amyloidosis, senile systemic
7276	Carpal tunnel syndrome, familial
7276	Dystransthyretinemic hyperthyroxinemia
7287	Retinitis pigmentosa-14
729	C6 deficiency
729	Combined C6/C7 deficiency
7291	Saethre-Chotzen syndrome
7291	Saethre-Chotzen syndrome with eyelid anomalies
7299	Albinism, oculocutaneous, type IA
7299	Albinism, oculocutaneous, type IB
7299	Waardenburg syndrome/albinism, digenic
730	C7 deficiency
7303	Huriez syndrome
7305	Presenile dementia with bone cysts
7306	Albinism, brown
7306	Albinism, rufous
731	C8 deficiency, type I
732	C8 deficiency, type II
7337	Angelman syndrome
7345	Parkinson disease, familial
735	C9 deficiency
735	C9 deficiency with dermatomyositis
7351	Obesity, susceptibility to
7354	Urofacial syndrome
7372	Oroticaciduria
7377	Urate oxidase deficiency
7389	Porphyria cutanea tarda
7389	Porphyria, hepatoerythropoietic
7390	Porphyria, congenital erythropoietic
7393	Usher syndrome, type 1A
7396	Usher syndrome, type 1E
7399	Retinitis pigmentasa, AR, without hearing loss
7399	Usher syndrome, type 2A
7400	Usher syndrome, type IIB
7401	Usher syndrome, type 3
7421	Osteoporosis, involutional
7421	Rickets, vitamin D-resistant
7428	Hemangioblastoma, cerebellar, somatic
7428	Pheochromocytoma
7428	Polycythemia, benign familial
7428	Renal cell carcinoma, somatic
7428	von Hippel-Lindau syndrome
7438	Macular dystrophy, atypical vitelliform
7439	Macular dystrophy, vitelliform type
7439	Maculopathy, 'bull's-eye'
7445	Vitreoretinopathy, neovascular inflammatory
7446	Atrioventricular canal defect
7450	von Willebrand disease
7454	Neutropenia, severe congenital, X-linked
7454	Thrombocytopenia, X-linked
7454	Thrombocytopenia, X-linked, intermittent
7454	Wiskott-Aldrich syndrome
7466	Hearing loss, low-frequency sensorineural
7466	Wolfram syndrome
7467	Wolf-Hirschhorn syndrome
7486	Werner syndrome
7488	Waardenburg syndrome, type 2B
7489	Waisman parkinsonism-mental retardation syndrome
7490	Denys-Drash syndrome
7490	Frasier syndrome
7490	Mesangial sclerosis, isolated diffuse
7490	WAGR syndrome
7490	Wilms tumor, type 1
7491	Adrenocortical carcinoma, hereditary
7491	Wilms tumor, type 2
7492	Mental retardation, X-linked, syndromic-6, with gynecomastia and obesity
7493	Wieacker-Wolff syndrome
7498	Xanthinuria, type I
7503	X-inactivation, familial skewed
7504	McLeod phenotype
7507	Xeroderma pigmentosum, group A
7508	Xeroderma pigmentosum, group C
7517	Breast cancer, susceptibility to
7517	Melanoma, cutaneous malignant, susceptibility to
7535	Selective T-cell defect
7546	Holoprosencephaly-5
7547	Heterotaxy, X-linked visceral
7555	Myotonic dystrophy, type 2
7555	PROMM
760	Renal tubular acidosis-osteopetrosis syndrome
7704	Leukemia, acute promyelocytic, PL2F/RARA type
772	Choroidal dystrophy, central areolar
773	Cerebellar ataxia, pure
773	Episodic ataxia, type 2
773	Hemiplegic migraine, familial
773	Spinocerebellar ataxia-6
7750	Stem-cell leukemia/lymphoma syndrome
778	Night blindness, congenital stationary, X-linked, type 2
779	Hypokalemic periodic paralysis
779	Malignant hyperthermia susceptibility 5
7792	Cataract, congenital, Volkmann type
7794	Neuroblastoma
7797	Breast cancer, ductal
7801	Corneal dystrophy, crystalline, Schnyder
7808	Acute insulin response
7809	Bartter syndrome, infantile, with sensorineural deafness
7817	Pheochromocytoma
7821	Hyperlipidemia, familial combined, 1
7827	Nephrotic syndrome, steroid-resistant
7828	Epidermolysis bullosa inversa, junctional
7830	Pseudohypoaldosteronism, type II
7833	Systemic lupus erythematosus, susceptibility to, 1
7834	Prostate cancer, susceptibility to
7840	Alstrom syndrome
7841	Glucosidase I deficiency
7849	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
785	Ataxia, episodic
785	Epilepsy, generalized idiopathic
785	Epilepsy, juvenile myoclonic
7854	Wrinkly skin syndrome
7856	Bjornstad syndrome
7864	Small-cell cancer of lung
7873	Pancreatic cancer
7877	Dementia, familial, nonspecific
7878	Hypoparathyroidism, familial
7879	Charcot-Marie-Tooth disease, type 2B
788	Carnitine-acylcarnitine translocase deficiency
7880	Moebius syndrome-2
7885	Craniosynostosis, Adelaide type
7888	Dentin dysplasia, type II
7889	Psoriasis, susceptibility to
7895	Neutropenia, neonatal alloimmune
7902	Erosive vitreoretinopathy
7902	Wagner syndrome
79051	Retinitis pigmentosa, Y-linked
79052	Thyroid carcinoma, papillary, with papillary renal neoplasia
79058	Alveolar soft-part sarcoma
7906	Charcot-Marie-Tooth neuropathy, demyelinating
7907	Bronchial asthma
7908	Eosinophilia, familial
79087	Congenital disorder of glycosylation, type Ig
7909	Hemangioma, capillary infantile
7910	Plasmodium falciparum parasitemia, intensity of
7911	Schistosoma mansoni infection, susceptibility/resistance to
7913	Leukemia, acute nonlymphocytic
79147	Muscular dystrophy, congenital, 1C
79147	Muscular dystrophy, limb-girdle, type 2I
7915	Succinic semialdehyde dehydrogenase deficiency
79179	Hyperaldosteronism, familial, type II
7924	Diabetes mellitus, insulin-dependent-1
7941	Asthma and atopy, susceptibility to
7941	Platelet-activating factor acetylhydrolase deficiency
7945	Pelviureteric junction obstruction
7946	Celiac disease
7947	Mixed polyposis syndrome, hereditary
7948	Chorioretinal atrophy, progressive bifocal
7952	Diabetes mellitus, transient neonatal
7954	Hereditary persistence of fetal hemoglobin, heterocellular
7957	Epilepsy, myoclonic, Lafora type
79577	Hyperparathyroidism, familial primary
79577	Hyperparathyroidism-jaw tumor syndrome
79577	Parathyroid adenoma with cystic changes
796	Osteoporosis
79648	Microcephaly, autosomal recessive 1
7966	Macular dystrophy, dominant cystoid
7968	Wilms tumor susceptibility-5
7969	Charcot-Marie-Tooth neuropathy, type 2D
7972	Spinal muscular atrophy, distal, with upper limb predominance
7977	Malignant hyperthermia susceptibility 3
79803	Hermansky-Pudlak syndrome
7981	Cardiomyopathy, familial hypertrophic with Wolff-Parkinson-White syndrome
7986	Pigment dispersion syndrome
799	Osteoporosis, postmenopausal, susceptibility
7991	Prostate cancer, susceptibility to
7996	Salivary gland pleomorphic adenoma
8	Atrophia areata
80025	HARP syndrome
80025	Neurodegeneration, pantothenate kinase-associated
8003	XY sex reversal
8004	Ovarian carcinoma
8008	Diaphyseal medullary stenosis with malignant fibrous histiocytoma
8009	Leukemia, acute lymphoblastic
8010	Trichoepithelioma, multiple familial
8012	Lethal congenital contracture syndrome
8013	Chondrosarcoma, extraskeletal myxoid
8014	Nephronophthisis, infantile
80207	3-methylglutaconicaciduria, type III
8021	Leukemia, acute myeloid
8022	Pituitary hormone deficiency, combined, with rigid cervical spine
8024	Refsum disease, adult, with increased pipecolicacidemia
8026	DiGeorge syndrome/velocardiofacial syndrome complex-2
80275	Split hand/foot malformation type 1 with deafness
8028	Leukemia, acute T-cell lymphoblastic
8028	Leukemia, acute myeloid
8029	Megaloblastic anemia-1, Finnish type
8030	Thyroid papillary carcinoma
8031	Thyroid carcinoma, papillary
8037	Endometrial carcinoma
8044	Arthrogryposis multiplex congenita, distal, type 2B
8048	Cardiomyopathy, dilated, 1M
8050	Lacticacidemia due to PDX1 deficiency
8051	Leukemia, acute T-cell
8062	Hartnup disorder
8068	Breast cancer, 11:22 translocation associated
8072	Faisalabad histiocytosis
8074	Hypophosphatemic rickets, autosomal dominant
8074	Osteomalacia, tumor-induced
80766	Porokeratosis, disseminated superficial actinic
80767	Multiple mitochondrial dysfunctions syndrome
80768	Neuropathy, distal hereditary motor, Jerash type
80770	Cataract, central saccular, with sutural opacities
80771	Nanophthalmos 2
80781	Knobloch syndrome
8080	Hypertension with brachydactyly
8081	Alzheimer disease-5
80832	Schizophrenia
8084	Palmoplantar keratoderma, Bothnia type
8086	Achalasia-addisonianism-alacrimia syndrome
80870	Dyskeratosis, hereditary benign intraepithelial
80871	Anisomastia
8089	Glioma
8090	Scapuloperoneal syndrome, myopathic type
8091	Lipoma
8091	Lipomatosis, mutiple
8091	Salivary adenoma
8091	Uterine leiomyoma
8093	Male germ cell tumor
8094	Spinal muscular atrophy, congenital nonprogressive, of lower limbs
8097	Spinal muscular atrophy-4
8098	Scapuloperoneal spinal muscular atrophy, New England type
81	Glomerulosclerosis, focal segmental, 1
8101	Leukemia, chronic lymphocytic, B-cell
8103	Postaxial polydactyly, type A2
8104	Microcoria, congenital
8105	Breast cancer, ductal
8106	Oculopharyngeal muscular dystorphy
8106	Oculopharyngeal muscular dystrophy, autosomal recessive
8113	Microphthalmia, autosomal recessive
8115	Leukemia/lymphoma, T-cell
8126	Mental retardation, severe, with spasticity and tapetoretinal degeneration
8129	Alpha-thalassemia/mental retardation syndrome, type 1
8130	Cataract, congenital, with microphthalmia
8132	Polycystic kidney disease, infantile severe, with tuberous sclerosis
8136	Wilms tumor, type 3
8137	Hypodontia, autosomal recessive
8139	Giant axonal neuropathy-1
8142	Breast cancer
8145	Retinal cone dsytrophy 2
8148	Chondrosarcoma, extraskeletal myxoid
8149	Van Buchem disease
8151	Wilms tumor, type 4
8152	Parkinsonism-dementia with pallidopontonigral degeneration
8156	Gliosis, familial progressive subcortical
8162	Neuralgic amyotrophy with predilection for brachial plexus
81693	Megaloblastic anemia-1, Norwegian type
8173	Carnosinemia
8177	Liposarcoma
8181	Convulsions, benign familial infantile
8184	Heart block, progressive familial, type I
81861	Leprosy, paucibacillary type, susceptibility to
81863	Cataract, autosomal recessive, early-onset, pulverulent
81864	Exudative vitreoretinopathy-3
81865	Convulsions, benign familial infantile, 2
81866	Nail dysplasia, isolated congenital
8195	Bardet-Biedl syndrome 6
8195	McKusick-Kaufman syndrome
8197	Congenital hereditary endothelial dystrophy of cornea, autosomal dominant
8200	Acromesomelic dysplasia, Hunter-Thompson type
8200	Brachydactyly, type C
8200	Chondrodysplasia, Grebe type
8200	Fibular hypoplasia and complex brachydactyly
8203	Obesity/hyperinsulinism, susceptibility to
8205	Leukemia, transient, of Down syndrome
8221	Opitz G syndrome, type II
8231	Dermoids of cornea
8232	Gonadal dysgenesis, XY female type
8240	Arthrogryposis, X-linked (spinal muscular atrophy, infantile, X-linked)
8245	Diabetes mellitus, insulin-dependent, X-linked
8247	Spinal muscular atrophy, X-linked lethal infantile
8249	Migraine, familial typical, susceptibility to, 1
825	Muscular dystrophy, limb-girdle, type 2A
8254	Arts syndrome
8255	Bazex syndrome
8258	Gustavson syndrome
8259	Wood neuroimmunologic syndrome
8262	Cardiac valvular dysplasia-1
8268	Intestinal pseudoobstruction, neuronal, X-linked
8277	Wernicke-Korsakoff syndrome, susceptibility to
8287	Azoospermia
8288	Eosinophil peroxidase deficiency
8291	Miyoshi myopathy
8291	Muscular dystrophy, limb-girdle, type 2B
8291	Myopathy, distal, with anterior tibial onset
8292	Endplate acetylcholinesterase deficiency
8301	Leukemia, acute T-cell lymphoblastic
8301	Leukemia, acute myeloid
8311	Autism, susceptibility to
8312	Hepatocellular carcinoma
8313	Colorectal cancer
8322	Exudative vitreoretinopathy
83405	Myasthenia gravis, familial infantile, 1
83406	Dermatitis, atopic
83407	Dermatitis, atopic
8379	Lymphoma, somatic
8379	Prostate cancer, somatic
83990	Breast cancer, early-onset
8400	Schizophrenia
8401	Schizophrenia
84059	Convulsions, familial febrile, 4
84062	Schizophrenia
841	Caspase 8 deficiency
8414	Retinitis pigmentosa-25
8419	Cataract, congenital
8419	Cataract, juvenile-onset
8422	MEHMO syndrome
84295	Borjeson-Forssman-Lehmann syndrome
843	Autoimmune lymphoproliferative syndrome, type II
843	Gastric cancer, somatic
843	Non-Hodgkin lymphoma, somatic
8431	Obesity, mild, early-onset
84343	Hermansky-Pudlak syndrome
8438	Breast cancer, invasive intraductal
8438	Colon adenocarcinoma
8438	Lymphoma, non-Hodgkin
8443	Chondrodysplasia punctata, rhizomelic, type 2
84434	Thrombocytosis, familial X-linked
84441	Mucoepidermoid salivary gland carcinoma
845	Ventricular tachycardia, stress-induced polymorphic
8456	T-cell immunodeficiency, congenital alopecia, and nail dystrophy
84565	Cholestasis-lymphedema syndrome
846	Hyperparathyroidism, neonatal
846	Hypocalcemia, autosomal dominant
846	Hypocalcemia, autosomal dominant, with Bartter syndrome
846	Hypocalciuric hypercalcemia, type I
847	Acatalasemia
8481	Oral-facial-digital syndrome 1
84916	Cirrhosis, North American Indian childhood type
8492	Mental retardation, nonsyndromic, autosomal recessive
84925	Renal cell carcinoma
8493	Breast cancer
8504	Zellweger syndrome, complementation group G
8517	Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency
8517	Ectodermal dysplasia, hypohidrotic, with immune deficiency
8517	Incontinentia pigmenti, type II
8518	Dysautonomia, familial
85358	Chromosome 22q13.3 deletion syndrome
85366	Cardiomyopathy, hypertrophic, midventricular, digenic
8540	Rhizomelic chondrodysplasia punctata, type 3
8542	Schizophrenia
8546	Hermansky-Pudlak syndrome
85501	Polydactyly, preaxial II
85502	Spinocerebellar ataxia with blindness and deafness
85503	Microphthalmia, colobomatous
85504	Bleeding disorder, east Texas type
85505	Acropectoral syndrome
85506	Spinocerebellar ataxia, recessive, non-Friedreich type 1
85507	Deafness, autosomal dominant 18
8557	Cardiomyopathy, dilated, 1N
8557	Muscular dystrophy, limb-girdle, type 2G
859	Creatine phosphokinase, elevated serum
859	Muscular dystrophy, limb-girdle, type IC
859	Rippling muscle disease
860	Cleidocranial dysplasia
860	Dental anomalies, isolated
861	Leukemia, acute myeloid
861	Platelet disorder, familial, with associated myeloid malignancy
8625	MHC class II deficiency, complementation group B
8626	ADULT syndrome
8626	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
8626	Hay-Wells syndrome
8626	Limb-mammary syndrome
8626	Split-hand/foot malformation, type 4
8643	Basal cell carcinoma, somatic
8643	Medulloblastoma
8647	Progressive intrahepatic cholestasis-2
865	Myeloid leukemia, acute, M4Eo subtype
8659	Hyperprolinemia, type II
866	Transcortin deficiency
8660	Diabetes mellitus, noninsulin-dependent
8671	Renal tubular acidosis, proximal, with ocular abnormalities
8691	Diabetes mellitus, insulin-dependent, 17
8701	Kartagener syndrome
8701	Situs inversus viscerum
875	Homocystinuria, B6-responsive and nonresponsive types
875	Thrombosis, hyperhomocysteinemic
878	Cataract, cerulean, type 1
8782	Myopia-3
8792	Osteolysis, familial expansile
8792	Paget disease of bone
8795	Squamous cell carcinoma, head and neck
8805	Thyroid carcinoma, papillary
8806	Schizophrenia
882	Chondrocalcinosis with early-onset osteoarthritis
8820	Septooptic dysplasia
8830	Patella aplasia or hypoplasia
8833	Leukemia, acute myelogenous
8838	Arthropathy, progressive pseudorheumatoid, of childhood
8842	Retinal degeneration, autosomal recessive, prominin-related
8864	Advanced sleep phase syndrome, familial
8878	Paget disease of bone
889	Cavernous malformations of CNS and retina
889	Cerebral cavernous malformations-1
889	Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
8890	Leukoencephaly with vanishing white matter
8891	Leukoencephalopathy with vanishing white matter
8892	Leukoencephalopathy with vanishing white matter
8893	Leukoencephalopathy with vanishing white matter
8898	Charcot-Marie-Tooth disease, type 4B
8910	Dystonia, myoclonic
8915	Colon cancer
8915	Germ cell tumor
8915	Lymphoma, MALT
8915	Lymphoma, follicular
8915	Mesothelioma
8915	Sezary syndrome
8929	Central hypoventilation syndrome, congenital
89781	Hermansky-Pudlak syndrome
89878	Nephrolithiasis, uric acid
89879	Myopathy, distal
89884	Short stature, pituitary and cerebellar defects, and small sella turcica
9051	Arthritis, familial recurrent
9051	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
9056	Lysinuric protein intolerance
9060	SEMD, Pakistani type
9077	Ovarian cancer
9095	Adrenocorticotropic hormone deficiency
91	Pancreatic cancer, somatic
9129	Retinitis pigmentosa-18
9132	Deafness, autosomal dominant 2
9151	Hypercalciuric hypercalcemia, type III
916	Immunodeficiency, T-cell receptor/CD3 complex
9163	Leukemia, acute myelogenous
917	Immunodeficiency due to defect in CD3-gamma
9186	Muscular dystrophy, limb-girdle, type 1D
919	CD3, zeta chain, deficiency
9193	Spastic paraplegia-9
9195	Spastic paraplegia-8
920	CD4+ lymphocyte deficiency
920	Lupus erythematosus, susceptibility to
9211	Epilepsy, partial, with auditory features
9211	Glioblastoma, somatic
9225	Cerebral cavernous malformations-2
9226	Cerebral cavernous malformations-3
9227	Retinal dystrophy, early-onset severe
9241	Stapes ankylosis syndrome without symphalangism
9241	Symphalangism, proximal
9241	Synostoses syndrome, multiple, 1
9241	Tarsal-carpal coalition syndrome
9244	Cold-induced sweating syndrome
9258	Malignant fibrous histiocytoma
9370	Adiponectin deficiency
9380	Hyperoxaluria, primary, type II
9381	Deafness, autosomal recessive 9
93955	Erythermalgia, primary
93956	Acromegaloid features, overgrowth, cleft palate, and hernia
93976	Corneal dystrophy and perceptive deafness 1
93985	FG syndrome
93986	Speech-language disorder-1
93999	Otosclerosis-2
94	Hereditary hemorrhagic telangiectasia-2
94002	Paget disease of bone
94003	Paget disease of bone
9401	Rothmund-Thomson syndrome
9409	Zellweger syndrome, complementation group 9
94159	Mucoepidermoid salivary gland carcinoma
9420	Giant cell hepatitis, neonatal
94312	Convulsions, benign familial infantile, 3
94313	Phrase speech delay, autism-related
94314	Endometrial stromal tumors
94337	Goiter, multinodular, 3
9445	Dementia, familial British
9445	Dementia, familial Danish
9451	Wolcott-Rallison syndrome
9459	Mental retardation, X-linked nonspecific, type 46
9479	Diabetes mellitus, noninsulin-dependent
948	Macrothrombocytopenia
948	Malaria, cerebral, reduced risk of
948	Malaria, cerebral, susceptibility to
948	Platelet glycoprotein IV deficiency
9490	Spinocerebellar ataxia-10
9499	Muscular dystrophy, limb-girdle, type 1A
9509	Ehlers-Danlos syndrome, type VIIC
9516	Charcot-Marie-Tooth disease, type 1C
9566	Prostate cancer, susceptibility to
9574	Congenital hereditary endothelial dystrophy of cornea, autosomal recessive
958	Immunodeficiency with hyper-IgM, type 3
959	Immunodeficiency, X-linked, with hyper-IgM
9623	Leukemia/lymphoma, T-cell
9634	Stargardt disease 4
966	CD59 deficiency
980	Congenital dyserythropoietic anemia II
981	Dyserythropoietic anemia, congenital, type III
982	Corneal dystrophy, Thiel-Behnke type
9821	Breast cancer, somatic
9839	Hirschsprung disease-mental retardation syndrome
9839	Hirschsprung disease-mental retardation syndrome without Hirschsprung disease
99	Alzheimer disease-2, late onset
9940	Esophageal cancer
9940	Lung cancer
9949	Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
9950	Thyroid carcinoma, papillary
9974	Hemochromatosis, type 2A
999	Breast cancer, lobular
999	Endometrial carcinoma
999	Gastric cancer, familial diffuse
999	Listeria monocytogenes, susceptibility to
999	Ovarian carcinoma
9990	Agenesis of the corpus callosum with peripheral neuropathy
9992	Long QT syndrome-6
9997	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
