format-version: 1.2
date: 16:02:2015 12:07
saved-by: smb
auto-generated-by: OBO-Edit 2.2
default-namespace: MGI_disease_ontology
remark: Filtered by ID contains "omim"
generated-by: $Id: MGIOBOFileGeneratorMgr.java
+ontology: doid/contrib/omimclusters

[Term]
id: DC:0000000
name: 46,XX Sex Reversal
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-29T15:18:27Z

[Term]
id: DC:0000002
name: 17-Hydroxysteroid Dehydrogenase Deficiency
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-29T15:22:20Z

[Term]
id: DC:0000004
name: 3-Methylglutaconic Aciduria
comment: OMIM series 250950.
xref: PS:250950
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-29T15:27:52Z

[Term]
id: DC:0000011
name: Adrenal Hypoplasia
comment: Based on text of OMIM 202155.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-29T16:05:16Z

[Term]
id: DC:0000017
name: Alopecia-Mental Retardation Syndrome
comment: OMIM series 203650.
xref: PS:203650
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-29T16:20:39Z

[Term]
id: DC:0000046
name: Atypical Mycobacteriosis, Familial
comment: OMIM 209950 lists 300636 and 300645 as other types of this disease.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T10:46:58Z

[Term]
id: DC:0000054
name: Bare Lymphocyte Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T11:10:04Z

[Term]
id: DC:0000057
name: Bleeding Disorder, Platelet-Type
comment: Phenotypic series in OMIM see OMIM 231200.
xref: PS:231200
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T11:12:30Z

[Term]
id: DC:0000074
name: Cerebral Cavernous Malformations
comment: Genetic heterogeneity of OMIM 116860 includes 603284 and 603285.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T11:45:12Z

[Term]
id: DC:0000076
name: Cerebrooculofacioskeletal Syndrome
comment: OMIM series 214150.
xref: PS:214150
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T11:48:36Z

[Term]
id: DC:0000080
name: Chondrodysplasia
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T12:58:02Z

[Term]
id: DC:0000083
name: Choreoathetosis
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T13:06:48Z

[Term]
id: DC:0000084
name: Choroidal Dystrophy
comment: OMIM series 215500.
xref: PS:215500
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T13:07:46Z

[Term]
id: DC:0000085
name: Chromosome Deletion Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T13:08:36Z

[Term]
id: DC:0000090
name: Colorblindness, Partial
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T13:25:19Z

[Term]
id: DC:0000112
name: Dent Disease
comment: OMIM series 300009.
xref: PS:300009
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T14:37:25Z

[Term]
id: DC:0000117
name: Diabetes Mellitus, Transient Neonatal
comment: See genetic heterogeneity of OMIM 601410.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T14:44:30Z

[Term]
id: DC:0000127
name: Myotonic Dystrophy
comment: OMIM series 160900.
xref: PS:160900
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T15:27:33Z

[Term]
id: DC:0000128
name: Ectodermal Dysplasia
comment: OMIM phenotypic series 305100.
xref: PS:305100
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T15:29:26Z

[Term]
id: DC:0000131
name: Short-Rib Thoracic Dysplasia
comment: OMIM phenotypic series 208500. Series name change in OMIM 2/17/14.
xref: PS:208500
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T15:39:28Z

[Term]
id: DC:0000133
name: Enuresis, Nocturnal
comment: See genetic heterogeneity of OMIM 600631.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T16:03:45Z

[Term]
id: DC:0000134
name: Liver Failure, Infantile
comment: OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb).
xref: PS:615438
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-11-18T13:32:10Z

[Term]
id: DC:0000138
name: Disease Cluster
created_by: smb
creation_date: 2013-09-17T14:32:14Z

[Term]
id: DC:0000146
name: Familial Cold Autoinflammatory Syndrome
comment: OMIM series 120100.
xref: PS:120100
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T16:30:26Z

[Term]
id: DC:0000149
name: Epilepsy, Absence
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T16:35:51Z

[Term]
id: DC:0000151
name: Epilepsy, Hot Water
comment: OMIM series 613339.
xref: PS:613339
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T16:38:11Z

[Term]
id: DC:0000153
name: Corticosterone Methyloxidase Deficiency
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-02T13:42:59Z

[Term]
id: DC:0000154
name: Epilepsy, Nocturnal Frontal Lobe
comment: OMIM series 600513.
xref: PS:600513
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-08-30T16:44:54Z

[Term]
id: DC:0000158
name: Fatty Liver Disease, Nonalcoholic
comment: See genetic heterogeneity of OMIM 613282.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-03T15:51:22Z

[Term]
id: DC:0000159
name: Febrile Seizures, Familial
comment: OMIM series 121210.
xref: PS:121210
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-03T15:53:07Z

[Term]
id: DC:0000162
name: Gingival Fibromatosis
comment: OMIM series 135300.
xref: PS:135300
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-03T16:23:18Z

[Term]
id: DC:0000163
name: Fibrosis Of Extraocular Muscles, Congenital
comment: Based on OMIM disease listed in the general description on 135700.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-03T16:25:05Z

[Term]
id: DC:0000166
name: Frontonasal Dysplasia
comment: OMIM series 136760.
xref: PS:136760
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T11:34:18Z

[Term]
id: DC:0000174
name: Glomerulopathy with Fibronectin Deposits
comment: OMIM series 137950.
xref: PS:137950
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T11:47:37Z

[Term]
id: DC:0000175
name: Glucocorticoid Deficiency
comment: See text of OMIM 202200.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T11:48:34Z

[Term]
id: DC:0000181
name: Hemolytic Anemia, Nonspherocytic
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T14:23:02Z

[Term]
id: DC:0000184
name: Herpes Simplex Encephalitis, Susceptibility
comment: See heterogeneity section of OMIM 610551.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T14:29:21Z

[Term]
id: DC:0000192
name: Hyper-IgE Recurrent Infection Syndrome
comment: See text of OMIM 147060.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T17:21:51Z

[Term]
id: DC:0000194
name: Hypercalciuria, Absorptive
comment: See text of OMIM 143870.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T17:25:48Z

[Term]
id: DC:0000202
name: Hyperphenylalaninemia, BH4-Deficient
comment: See text of OMIM 261640.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T17:41:47Z

[Term]
id: DC:0000203
name: Hyperphosphatasia with Mental Retardation Syndrome
comment: OMIM series 239300.
xref: PS:239300
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T17:43:22Z

[Term]
id: DC:0000204
name: Hyperprolinemia
comment: See text of OMIM 239510.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T17:45:13Z

[Term]
id: DC:0000209
name: Hypocalciuric Hypercalcemia
comment: OMIM series 145980.
xref: PS:145980
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T17:59:52Z

[Term]
id: DC:0000212
name: Hypomagnesemia
comment: OMIM series 602014.
xref: PS:602014
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T18:02:52Z

[Term]
id: DC:0000217
name: Hypothyroidism, Congenital, Nongoitrous
comment: OMIM series 275200.
xref: PS:275200
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T18:07:21Z

[Term]
id: DC:0000219
name: Hypouricemia, Renal
comment: See text of OMIM 220150, does not include 307830.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-04T18:14:19Z

[Term]
id: DC:0000222
name: Immunodeficiency with Hyper-IgM
comment: OMIM series 308230.
xref: PS:308230
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T10:25:58Z

[Term]
id: DC:0000223
name: Immunoglobulin A Deficiency
comment: See genetic heterogeneity of OMIM 137100.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T10:28:43Z

[Term]
id: DC:0000227
name: Invasive Pneumococcal Disease, Recurrent Isolated
comment: OMIM series 610799.
xref: PS:610799
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T10:37:05Z

[Term]
id: DC:0000228
name: Iridogoniodysgenesis
comment: See genetic heterogeneity of OMIM 601631.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T10:38:28Z

[Term]
id: DC:0000229
name: Isolated Growth Hormone Deficiency
comment: See Inheritance of OMIM 262400.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T10:48:41Z

[Term]
id: DC:0000230
name: Jervell and Lange-Nielsen Syndrome
comment: See text of OMIM 220400.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T10:49:54Z

[Term]
id: DC:0000234
name: Keratoderma, Palmoplantar Striate
comment: See genetic heterogeneity of OMIM 148700.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T11:00:11Z

[Term]
id: DC:0000237
name: Left Ventricular Noncompaction
comment: OMIM series 604169.
xref: PS:604169
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T11:08:25Z

[Term]
id: DC:0000240
name: Leprosy, Susceptibility to
comment: See heteogeneity of OMIM 609888.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T11:13:52Z

[Term]
id: DC:0000241
name: Lethal Congenital Contractural Syndrome
comment: OMIM series 253310.
xref: PS:253310
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T11:15:43Z

[Term]
id: DC:0000245
name: Leukodystrophy, Hypomyelinating
comment: OMIM series 312080.
xref: PS:312080
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T11:25:54Z

[Term]
id: DC:0000259
name: Lymphoproliferative Syndrome
comment: OMIM series 308240.
xref: PS:308240
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T13:14:38Z

[Term]
id: DC:0000261
name: Macroglobulinemia, Waldenstrom
comment: See genetic heterogeneity for OMIM 153600.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T13:22:28Z

[Term]
id: DC:0000263
name: Macular Dystrophy
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T13:27:34Z

[Term]
id: DC:0000264
name: Major Affective Disorder
comment: See text for OMIM 125480.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T13:28:40Z

[Term]
id: DC:0000265
name: Malaria Susceptibility
comment: See mapping of OMIM 611162.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T13:29:44Z

[Term]
id: DC:0000267
name: Mandibuloacral Dysplasia with Lipodystrophy
comment: OMIM series 248370.
xref: PS:248370
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T13:32:13Z

[Term]
id: DC:0000268
name: Medullary Cystic Kidney Disease
comment: See genetic heterogeneity of OMIM 174000.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-05T13:42:04Z

[Term]
id: DC:0000274
name: Methylmalonic Aciduria and Homocystinuria
comment: See description of OMIM 277410, does not include 614857.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:08:14Z

[Term]
id: DC:0000276
name: Microcephalic Osteodysplastic Primordial Dwarfism
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:10:36Z

[Term]
id: DC:0000277
name: Microcephaly, Primary, Autosomal Recessive
comment: OMIM series 251200.
xref: PS:251200
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:11:27Z

[Term]
id: DC:0000278
name: Microphthalmia, Isolated
comment: OMIM series 251600.
xref: PS:251600
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:12:56Z

[Term]
id: DC:0000279
name: Molybdenum Cofactor Deficiency
comment: OMIM series 252150.
xref: PS:252150
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-11-18T13:36:42Z

[Term]
id: DC:0000280
name: Microphthalmia, Syndromic
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:14:27Z

[Term]
id: DC:0000281
name: Microvascular Complications of Diabetes, Susceptibility
comment: OMIM series 603933.
xref: PS:603933
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:16:54Z

[Term]
id: DC:0000283
name: Mitochondrial Complex Deficiency
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:20:42Z

[Term]
id: DC:0000284
name: Mitochondrial DNA Depletion Syndrome
comment: OMIM series 603041.
xref: PS:603041
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-06T15:22:32Z

[Term]
id: DC:0000291
name: Multiple Endocrine Neoplasia
comment: OMIM series 131100.
xref: PS:131100
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:08:30Z

[Term]
id: DC:0000292
name: Multiple Pterygium Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:09:17Z

[Term]
id: DC:0000297
name: Myasthenic Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:23:21Z

[Term]
id: DC:0000298
name: Mycobacterium Tuberculosis, Susceptibility
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:25:35Z

[Term]
id: DC:0000299
name: Myocardial Infarction, Susceptibility
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:31:33Z

[Term]
id: DC:0000302
name: Myopathy, Congenital
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:47:39Z

[Term]
id: DC:0000304
name: Myopathy, Lactic Acidosis, and Sideroblastic Anemia
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:49:35Z

[Term]
id: DC:0000305
name: Myopathy, Myofibrillar
comment: OMIM series 601419.
xref: PS:601419
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:51:15Z

[Term]
id: DC:0000306
name: Myopathy, Reducing Body, X-Linked
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:52:47Z

[Term]
id: DC:0000308
name: Myopathy, Inclusion Body
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T14:55:47Z

[Term]
id: DC:0000310
name: Nail Disorder, Nonsyndromic Congenital
comment: OMIM series 161050. Oddly many of the diseases with the disease title of Nail Disorder, Nonsyndromic Congenital are not included in the OMIM series list, including #1 which has the same ID as the series. #1 is now part of the series (2/13/15).
xref: PS:161050
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T15:00:15Z

[Term]
id: DC:0000318
name: Neural Tube Defects
comment: See description of OMIM 182940.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T15:29:25Z

[Term]
id: DC:0000320
name: Neurodegeneration with Brain Iron Accumulation
comment: OMIM series 234200.
xref: PS:234200
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T15:33:21Z

[Term]
id: DC:0000322
name: Neuronopathy, Distal Hereditary Motor
comment: See genetic heterogeneity of OMIM 182960.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T15:47:16Z

[Term]
id: DC:0000328
name: Nystagmus
comment: OMIM series 310700.
xref: PS:310700
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-09T15:54:55Z

[Term]
id: DC:0000331
name: Acrocephalopolysyndactyly
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-03T14:59:49Z

[Term]
id: DC:0000341
name: Nephrolithiasis/Osteoporosis, Hypophosphatemic
comment: OMIM series 612286.
xref: PS:612286
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T14:10:44Z

[Term]
id: DC:0000342
name: Oto-Palato-Digital Syndrome
comment: See description of OMIM 311300. Based on OMIM text I've included 305620 and 309350 in this series. "Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum.".
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T14:17:12Z

[Term]
id: DC:0000345
name: Ovarian Dysgenesis
comment: OMIM series 233300.
xref: PS:233300
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T16:10:00Z

[Term]
id: DC:0000354
name: Pelvic Organ Prolapse
comment: Text of OMIM 613088 points to OMIM 176780 for disease description.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T16:24:24Z

[Term]
id: DC:0000356
name: Griscelli Syndrome
comment: See description of OMIM 214450.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T16:27:43Z

[Term]
id: DC:0000358
name: Pituitary Hormone Deficiency, Combined
comment: OMIM series 613038.
xref: PS:613038
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T16:32:06Z

[Term]
id: DC:0000362
name: Polydactyly, Preaxial
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T16:39:13Z

[Term]
id: DC:0000363
name: Polymicrogyria
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T16:40:39Z

[Term]
id: DC:0000367
name: Precocious Puberty
comment: OMIM series 176400.
xref: PS:176400
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T16:54:59Z

[Term]
id: DC:0000371
name: Age-Related Hearing Impairment
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T17:02:21Z

[Term]
id: DC:0000373
name: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
comment: OMIM series 157640.
xref: PS:157640
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T17:04:44Z

[Term]
id: DC:0000374
name: Progressive Familial Heart Block
comment: OMIM series 113900.
xref: PS:113900
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T17:05:20Z

[Term]
id: DC:0000381
name: Pyloric Stenosis, Infantile
comment: OMIM series 179010.
xref: PS:179010
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-11T17:18:11Z

[Term]
id: DC:0000398
name: Schistosoma mansoni Infection, Susceptibility
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-12T12:56:52Z

[Term]
id: DC:0000409
name: Spastic Ataxia
comment: OMIM series 108600.
xref: PS:108600
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-13T10:13:22Z

[Term]
id: DC:0000416
name: Split-Hand/Foot Malformation
comment: OMIM series 183600.
xref: PS:183600
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-13T16:03:56Z

[Term]
id: DC:0000431
name: Testicular Germ Cell Tumor
comment: See genetic heterogeneity of OMIM 273300.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T13:06:40Z

[Term]
id: DC:0000436
name: Thyroid Dyshormonogenesis
comment: The general description for OMIM 274400 includes 274500, 274700, 274800, 274900, ad 607200. It also includes 274600 (Pendred Syndrome) but as this includes additional phenotypes I've left it out of the cluster.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T13:10:33Z

[Term]
id: DC:0000438
name: Thyrotoxic Periodic Paralysis
comment: Genetic heterogeneity of OMIM 188580 lists 613239 and 614834.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T13:12:45Z

[Term]
id: DC:0000442
name: Trichoepithelioma, Multiple Familial
comment: See text of OMIM 601606.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T13:22:02Z

[Term]
id: DC:0000443
name: Trichorhinophalangeal Syndrome
comment: See OMIM 190350.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T13:23:01Z

[Term]
id: DC:0000445
name: Tumoral Calcinosis
comment: See clinical features of OMIM 610455.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T13:25:05Z

[Term]
id: DC:0000452
name: Vertigo
comment: See text of OMIM 193007.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T14:23:19Z

[Term]
id: DC:0000457
name: Wilms Tumor
comment: OMIM 194070 lists 194071, 194090, 601363, and 601583 as other loci associated with this disease.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-09-16T15:29:04Z

[Term]
id: DC:0000463
name: Acrofacial Dysostosis
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-03T15:03:09Z

[Term]
id: DC:0000465
name: Acrorenal Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-03T15:05:58Z

[Term]
id: DC:0000469
name: Anemia, Hypochromic Microcytic with Iron Overload
comment: OMIM series 206100.
xref: PS:206100
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-03T15:25:00Z

[Term]
id: DC:0000475
name: Auriculocondylar Syndrome
comment: OMIM series 602483.
xref: PS:602483
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-03T16:09:56Z

[Term]
id: DC:0000476
name: Bacteremia, Susceptibility
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-03T17:13:40Z

[Term]
id: DC:0000479
name: Bifid Nose
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-03T17:21:19Z

[Term]
id: DC:0000486
name: Camptodactyly Syndrome, Guadalajara
comment: Text for OMIM 211910 includes 211920 and 611929 as other types.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T13:44:12Z

[Term]
id: DC:0000488
name: Cardioencephalomyopathy, Fatal Infantile
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T13:56:33Z

[Term]
id: DC:0000490
name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome
comment: OMIM series 224050.
xref: PS:224050
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T14:24:28Z

[Term]
id: DC:0000491
name: Cerebelloparenchymal Disorder
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T14:31:20Z

[Term]
id: DC:0000492
name: Chiari Malformation
comment: Nomenclature of OMIM 118420 includes 207950 as another type.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T14:35:00Z

[Term]
id: DC:0000493
name: Chilblain Lupus
comment: OMIM series 610448.
xref: PS:610448
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T14:36:17Z

[Term]
id: DC:0000495
name: Chromosome Duplication Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T14:44:37Z

[Term]
id: DC:0000498
name: Cortical Dysplasia, Complex, with Other Brain Malformations
comment: OMIM series 614039.
xref: PS:614039
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T15:19:07Z

[Term]
id: DC:0000503
name: Diarrhea, Congenital
comment: OMIM series 214700.
xref: PS:214700
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T16:30:27Z

[Term]
id: DC:0000504
name: Reticulate Pigment Disorder
comment: OMIM series 179850.
xref: PS:179850
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-04T16:53:32Z

[Term]
id: DC:0000506
name: Congenital Heart Defects, Multiple Types
comment: Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T11:28:34Z

[Term]
id: DC:0000511
name: Ectopia Lentis, Isolated
comment: See OMIM 129600 text.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T11:47:28Z

[Term]
id: DC:0000512
name: Emphysema
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T11:50:42Z

[Term]
id: DC:0000516
name: Facial Paresis, Hereditary Congenital
comment: OMIM series 601471.
xref: PS:601471
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T12:04:45Z

[Term]
id: DC:0000517
name: Factor V and Factor VIII, Combined Deficiency of
comment: Genetic heterogeneity of OMIM 227300 lists 613625.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T12:08:12Z

[Term]
id: DC:0000519
name: Fibrochondrogenesis
comment: OMIM series 228520.
xref: PS:228520
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:22:02Z

[Term]
id: DC:0000521
name: Focal Facial Dermal Dysplasia
comment: OMIM series 136500.
xref: PS:136500
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:26:25Z

[Term]
id: DC:0000522
name: Fundus Dystrophy, Pseudoinflammatory
comment: See text of OMIM 264420.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:30:42Z

[Term]
id: DC:0000523
name: Gastric Cancer
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:32:30Z

[Term]
id: DC:0000524
name: Geleophysic Dysplasia
comment: OMIM series 231050.
xref: PS:231050
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:34:02Z

[Term]
id: DC:0000525
name: Giant Axonal Neuropathy
comment: See genetic heterogeneity of OMIM 256850.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:37:07Z

[Term]
id: DC:0000526
name: Glutaric Aciduria
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:42:25Z

[Term]
id: DC:0000527
name: Heart-Hand Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T13:47:15Z

[Term]
id: DC:0000532
name: Humeroradial Synostosis
comment: See text of OMIM 143050.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T14:35:03Z

[Term]
id: DC:0000536
name: Hypercarotenemia And Vitamin A Deficiency
comment: See OMIM text for 115300.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T14:43:09Z

[Term]
id: DC:0000537
name: Hyperekplexia
comment: See genetic heterogeneity section of OMIM 149400.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T14:46:36Z

[Term]
id: DC:0000540
name: Hyperpigmentation, Familial Progressive
comment: See genetic heterogeneity of OMIM 614233.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T14:54:41Z

[Term]
id: DC:0000541
name: Hypocalcemia
comment: OMIM series 601198.
xref: PS:601198
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T14:58:21Z

[Term]
id: DC:0000544
name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
comment: OMIM series 242860.
xref: PS:242860
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T15:08:32Z

[Term]
id: DC:0000547
name: Kabuki Syndrome
comment: OMIM series 147920.
xref: PS:147920
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T15:28:04Z

[Term]
id: DC:0000548
name: Kala-Azar, Susceptibility
comment: OMIM series 608207.
xref: PS:608207
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T15:30:18Z

[Term]
id: DC:0000549
name: Kenny-Caffey Syndrome
comment: OMIM series 127000.
xref: PS:127000
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T15:31:57Z

[Term]
id: DC:0000550
name: Keratosis Follicularis Spinulosa Decalvans
comment: See text of OMIM 612843.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T15:37:07Z

[Term]
id: DC:0000556
name: Leukoencephalopathy, Megalencephalic
comment: OMIM series 604004.
xref: PS:604004
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T16:42:41Z

[Term]
id: DC:0000558
name: Metaphyseal Chondrodysplasia
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-09T16:58:26Z

[Term]
id: DC:0000563
name: Mirror Movements
comment: OMIM series 157600.
xref: PS:157600
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-10T16:32:56Z

[Term]
id: DC:0000564
name: Mosaic Variegated Aneuploidy Syndrome
comment: OMIM series 257300.
xref: PS:257300
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-10T16:40:35Z

[Term]
id: DC:0000565
name: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
comment: OMIM series 614080.
xref: PS:614080
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-10T16:43:49Z

[Term]
id: DC:0000566
name: Multiple Mitochondrial Dysfunctions Syndrome
comment: OMIM series 605711.
xref: PS:605711
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-10T16:45:02Z

[Term]
id: DC:0000567
name: Myofibromatosis, Infantile
comment: OMIM series 228550.
xref: PS:228550
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-10T16:48:39Z

[Term]
id: DC:0000568
name: Myoglobinuria
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-10T16:51:08Z

[Term]
id: DC:0000572
name: Omphalocele
comment: See text of OMIM 310980.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-11T16:02:06Z

[Term]
id: DC:0000580
name: Pregnancy Loss, Recurrent, Susceptibility
comment: See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-11T16:44:59Z

[Term]
id: DC:0000581
name: Premature Aging Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-11T16:47:55Z

[Term]
id: DC:0000583
name: Progeroid Syndrome
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-11T16:50:54Z

[Term]
id: DC:0000587
name: Polyposis
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T11:23:59Z

[Term]
id: DC:0000590
name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related
comment: See genetic heterogeneity of OMIM 614742.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T11:34:57Z

[Term]
id: DC:0000592
name: Retinopathy
comment: See text of OMIM 268060.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T14:27:38Z

[Term]
id: DC:0000598
name: Spondylometaphyseal Dysplasia
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T14:42:26Z

[Term]
id: DC:0000600
name: Thiamine-Responsive Dysfunction Syndrome
comment: OMIM series 249270.
xref: PS:249270
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T14:50:56Z

[Term]
id: DC:0000602
name: Transposition of the Great Arteries
comment: OMIM series 608808.
xref: PS:608808
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T14:59:39Z

[Term]
id: DC:0000604
name: Trichohepatoenteric Syndrome
comment: See genetic heterogeneity of OMIM 222470.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T15:03:22Z

[Term]
id: DC:0000605
name: Triglyceride Storage Disease
comment: See text of OMIM 190430.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T15:05:03Z

[Term]
id: DC:0000606
name: Trigonocephaly
comment: OMIM series 190440.
xref: PS:190440
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-10-16T15:06:05Z

[Term]
id: DC:0000615
name: Immunodeficiency
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-12-04T11:44:59Z

[Term]
id: DC:0000616
name: Episodic Pain Syndrome, Familial
comment: OMIM series 615040.
xref: PS:615040
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2013-12-09T10:13:49Z

[Term]
id: DC:0000618
name: Developmental Dysplasia of the Hip
comment: OMIM series 142700.
xref: PS:142700
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-02-03T10:16:48Z

[Term]
id: DC:0000621
name: Bone Marrow Failure Syndrome
comment: Genetic heterogeneity of OMIM 614675 includes 615715.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-04-02T12:03:09Z

[Term]
id: DC:0000623
name: Desbuquois Dysplasia
comment: OMIM series 251450.
xref: PS:251450
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-05-12T13:54:32Z

[Term]
id: DC:0000624
name: Epilepsy, Familial Adult Myoclonic
comment: OMIM series 601068.
xref: PS:601068
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-05-12T14:00:01Z

[Term]
id: DC:0000632
name: Autoimmune Disease, Susceptibility to
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-19T11:31:36Z

[Term]
id: DC:0000634
name: Autoimmune Thyroid Disease, Susceptibility to
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-19T11:35:15Z

[Term]
id: DC:0000644
name: Corneal Dystrophy, Posterior Polymorphous
comment: OMIM series 122000.
xref: PS:122000
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-23T17:31:19Z

[Term]
id: DC:0000645
name: Ectodermal Dysplasia-Syndactyly Syndrome
comment: OMIM series 613573.
xref: PS:613573
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-24T14:15:35Z

[Term]
id: DC:0000646
name: Encephalopathy, Acute, Infection-Induced
comment: OMIM series 601551.
xref: PS:601551
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-24T14:56:29Z

[Term]
id: DC:0000649
name: Huntington Disease-Like
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-26T10:27:55Z

[Term]
id: DC:0000652
name: Ichthyosis, Congenital, Autosomal Recessive
comment: OMIM series 242300.
xref: PS:242300
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-26T13:48:39Z

[Term]
id: DC:0000653
name: Keratoderma, Palmoplantar Punctate
comment: See description of OMIM 148600.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-26T14:52:07Z

[Term]
id: DC:0000657
name: Microphthalmia, Isolated, with Cataract
comment: OMIM series 156850.
xref: PS:156850
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-27T14:56:22Z

[Term]
id: DC:0000658
name: Microphthalmia, Isolated, with Coloboma
comment: OMIM series 300345.
xref: PS:300345
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-27T14:57:57Z

[Term]
id: DC:0000659
name: Muscular Dystrophy-Dystroglycanopathy, Type A
comment: OMIM series 236670.
xref: PS:236670
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-30T11:11:11Z

[Term]
id: DC:0000660
name: Muscular Dystrophy-Dystroglycanopathy, Type B
comment: OMIM series 613155.
xref: PS:613155
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-30T11:12:03Z

[Term]
id: DC:0000661
name: Muscular Dystrophy-Dystroglycanopathy, Type C
comment: OMIM series 609308.
xref: PS:609308
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-06-30T11:13:02Z

[Term]
id: DC:0000663
name: Split-Hand/Foot Malformation with Long Bone Deficiency
comment: OMIM 119100 is used as the general description for 610685 and 612576.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-07-08T15:28:11Z

[Term]
id: DC:0000665
name: Ventricular Tachycardia, Catecholaminergic Polymorphic
comment: OMIM series 604772.
xref: PS:604772
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-07-09T11:42:46Z

[Term]
id: DC:0000667
name: Myopathy, Tubular Aggregate
comment: OMIM series 160565.
xref: PS:160565
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-07-21T16:08:22Z

[Term]
id: DC:0000668
name: Ataxia-Telangiectasia-Like Disorder
comment: OMIM series 604391.
xref: PS:604391
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-08-11T10:38:49Z

[Term]
id: DC:0000669
name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
comment: See genetic heterogeneity of OMIM 603387.
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-08-25T15:55:17Z

[Term]
id: DC:0000670
name: Laryngeal Abductor Paralysis
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-09-10T11:47:31Z

[Term]
id: DC:0000671
name: Breasts and/or Nipples, Aplasia or Hypoplasia of
comment: OMIM series 113700.
xref: PS:113700
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-09-15T13:01:37Z

[Term]
id: DC:0000672
name: Neu-Laxova Syndrome
comment: OMIM series 256520.
xref: PS:256520
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-10-15T16:09:22Z

[Term]
id: DC:0000674
name: Inflammatory Skin and Bowel Disease, Neonatal
comment: OMIM series 614328.
xref: PS:614328
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2014-11-10T10:32:23Z

[Term]
id: DC:0000676
name: Microcephaly and Chorioretinopathy
comment: OMIM series 251279.
xref: PS:251279
is_a: DC:0000138 ! Disease Cluster
created_by: smb
creation_date: 2015-01-12T10:30:11Z