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Preface
Causes of Disruptions in Children’s Growth
Scientific Evidence
Advancements in technology, clinical research, and high speed information sharing have collectively facilitated the discovery of an unprecedented amount of information pertaining to the genetic causes of children’s growth failure, overgrowth or other growth irregularities.
Consequentially, scientists have been busy mapping out all of the millions of genetic details in discovery. During this process they have identified some diseases/syndromes which will be apparent in a child who displays all of the characteristics (“classic” form) of that syndrome. Other children may have the same syndrome but in a “partial” form. Also, there may be multiple varieties of the partial form. To make matters more complicated, some children have issues which are (non-syndromic) and may not yet have a “name”.
The variation of characteristics within each syndrome means that growth irregularities may be the result of a variety of mechanisms. Thankfully, this very complicated issue is somewhat simplified as many causes for disturbances in a child’s growth can now be identified and proven by genetic testing.
What does this increase in knowledge do for families and growth affected children?
Potentially, genetic explanations can afford physicians an opportunity to identify causes for growth failure or overgrowth at a much younger age. If treatments are available for the identified medical cause, initiating therapies as soon as possible could change the child’s future and health for his/her entire lifetime.
Changing Public Misconceptions
There are many assumptions surrounding children’s growth. It is generally believed that if we “wait and see” … a child who is small will eventually catch up to his/her peers. The opposite side of growth issues pertains to a child who is exceptionally tall for his/her age, particularly if the child is male. Parents and other caregivers often consider overgrowth as a “benefit” rather than a health warning.
As a major sign of health, a child’s growth pattern is NOT simply a cosmetic or appearance issue. Children’s growth should be checked annually and regarded with serious consideration. NO irregular growth (too much or too little) is safe for children if it is caused by a hidden medical issue.
ICOSEP is a coalition of patient organizations representing various “growth” conditions. Governments, medical societies and others have endorsed and supported ICOSEP and our educational initiative. We have one goal: to share a simple truth about children’s growth so that children throughout the country may be identified with enough time to intervene for their best lifetime of health.
Join us! Each year, on September 20th, we share one message via our annual Children’s Growth Awareness educational initiative. Materials are downloadable and free for this campaign use.
Visit: http://icosep.org and click the Growth Awareness Day tab for more details.
Table of Contents
Section 1
Alphabetized list of Medical Conditions Impacting Children’s Growth
Section 2
Itemized Summary Search Lists for:
Decreased Serum IGF-1 Associated Diseases
IGF-1 Diseases
Disproportionate Short Limb Associated Diseases
Disproportionate Short Stature Diseases
Disproportionate Short Trunk Short Stature
Dysplasia’s
Proportionate Short Stature Associated Diseases
Growth Hormone Deficiency
Growth Hormone Deficiency (Monarch search example)
Secondary Growth Hormone Deficiency
Pituitary Dwarfism Associated Diseases
Growth Hormone Excess
Precocious Puberty
Section 3
Cross-referenced Master List of Conditions with URL Information and Notes
Section 4
Alphabetized Resources
Legal Notice
Alphabetized List of Growth Impacting Diagnoses
Contains all syndrome/condition names (including AKA names from the detailed list in Section 3).
1
10q Duplication
2
10q Trisomy
3
12q Duplication
4
12q Trisomy
5
13q Deletions (various) Overview
6
14q Deletions Between 14q22 and 14q32
7
14q Deletions Proximal to 14q22
8
14q22q23 Microdeletion Syndrome
9
15q13.3 Microdeletion Syndrome
10
16p13.11 Microdeletion Syndrome
11
17p13.3 Microduplication Syndrome
12
17q Deletion
13
17q Monosomy
14
17q11 Microdeletion Syndrome
15
17q11.2 Microduplication Syndrome
16
18q Deletion Syndrome; Deletions from 18q11.2 to 18q21.2
17
19 XLMR
18
1p36 Deletion Syndrome
19
1q Duplication
20
1q Trisomy
21
1q21.1 Deletion Syndrome
22
1q21.1 Microdeletion
23
1q21.1 Microduplications
24
1q24q25 Microdeletion Syndrome
25
1q41-q42 Deletion Syndrome
26
1q41-q42 Microdeletion Syndrome
27
1-Spondylometaphyseal Dysplasia - Sutcliffe Type
28
20p12.3 Microdeletion Syndrome
29
21q Deletion Syndrome
30
22q11.2 Deletion Syndrome
31
22q13 Microdeletion Syndrome
32
22q13.3 Deletion Syndrome
33
2-Spondylometaphyseal Dysplasia Axial
34
3C Syndrome
35
3M Syndrome
36
3MC Syndrome
37
3-Methylglutaconic Aciduria Type II
38
3p Deletion
39
3p Duplication
40
3p Monosomy
41
3p- Syndrome
42
3p Trisomy
43
3q26.33‐3q28 Microdeletion
44
3-Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
45
4 H Syndrome
46
4p Deletion
47
4p Monosomy
48
4q Deletion Syndrome, Partial
49
4q Monosomy
50
4q28.1
51
5p Monosomy
52
5p Partial Monosomy Syndrome
53
5p Syndrome
54
5p13 Microduplication Syndrome
55
6-Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
56
8p Inverted Duplication/Deletion Syndrome
57
8p- Syndrome, Partial
58
8q Deletion
59
8q Monosomy
60
8q13 Microdeletion Syndrome
61
9p Partial Monosomy
62
9p13.3-p13.1 Interstitial Deletion
63
9q Deletion
64
9q Monosomy
65
Aarskog Syndrome
66
Aarskog-Like Syndrome
67
Aarskog–Scott Syndrome
68
Aase-Smith Syndrome II
69
Abetalipoproteinemia
70
Ablepharon Macrostomia Syndrome
71
Abnormal Facies, Mental Retardation, Ectomorphic Habitus
72
Abruzzo-Erickson Syndrome
73
Absence of Septum Pellucidum
74
Absence of Ulna and Fibula with Severe Limb Deficiency
75
Absent Thumb-Short Stature-Immunodeficienty Syndrome, TAR
76
Achalasia-Adrenal-Alacrima Syndrome
77
Achalasia-Microcephaly Syndrome
78
Achondrogenesis Type II
79
Achondroplasia
80
Achondroplasia and Severe Combined Immunodeficiency, Short-Limb Skeletal Dysplasia
with Severe Combined Immunodeficiency
81
Achondroplasia so-called and Severe Combined Immunodeficiency
82
Acquired GHD
83
Acquired Hypothyroidism
84
Acral Renal Ectodermal Dysplasia Lipoatrophic Diabetes
85
Acrocallosal Syndrome
86
Acrocallosal Syndrome, Schinzel Type
87
Acrocapitofemoral Dysplasia
88
Acrocephalopolysyndactyly, Type 4
89
Acrocephalo-Syndactyly Type 1
90
Acrocraniofacial Dysostosis
91
Acrodental Dysostosis of Weyers
92
Acrodysostosis
93
Acrodysplasia, Ossification Abnormalities, Short Stature, Fibular Hypoplasia
94
Acrofacial Dysostosis, Catania Type
95
Acrofacial Dysostosis, Cincinnati Type
96
Acrofacial Dysostosis, Rodriguez Type
97
Acro-Fronto-Facio-Nasal Dysostosis, Type 1
98
Acro-Fronto-Facio-Nasal Dysostosis, Type 2
99
Acromegaloid Features, Cutis Verticis Gyrata, Leukoma
100
Acromegaly
101
Acromesomelic Chondrodysplasia, Genital Anomalies
102
Acromesomelic Dwarfism, Ferraz Type
103
Acrometageria
104
Acromicric Dysplasia
105
Acro-Osteolysis
106
Acrorenal Field Defect, Ectodermal Dysplasia, and Lipoatrophic Diabetes
107
Acrorenal Mandibular Syndrome
108
Acro-Renal-Uterine-Mandibular Syndrome
109
ADA Deficiency
110
Adams-Oliver Syndrome
111
Adams-Oliver Syndrome 2
112
Adams-Oliver Syndrome 5
113
Adenosine Deaminase Deficiency
114
Adenosine Deaminase Deficient Severe Combined Immunodeficiency
115
Adenylosuccinase Deficiency
116
ADMIO1
117
ADNP-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
118
ADRA1B
119
Adrenal Hyperplasia I
120
ADRENAL HYPOPLASIA, CONGENITAL
121
Adrenal Hypoplasia, Gonadotrophin Deficiency, Deafness
122
ADSL Deficiency
123
AEXS
124
AFD Catania Type
125
AFFN Dysostosis 1 ( AFFND1)
126
AFFN Dysostosis 2 (AFFND2)
127
AGA Deficiency
128
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked
129
AGL Deficiency
130
AHC
131
AHDC1 (gene Mutations)
132
Aicardi Goutieres Syndrome 4
133
Aicardi Syndrome
134
Al Awadi Rass Rothschild Syndrome
135
Al Gazali Khidr Prem Chandran Syndrome
136
Alagille Syndrome
137
Alaninuria, Microcephaly, Dwarfism, Diabetes
138
Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome
139
Alazami Syndrome
140
Albright Hereditary Osteodystrophy
141
Albright Hereditary Osteodystrophy-Like Syndrome
142
Albright Hereditary Osteodystrophy-Like Syndrome, PRMT7 Mutations
143
Albright Syndrome
144
Aldoa Deficiency
145
Aldolase A Deficiency
146
Al-Gazali Syndrome
147
Alkuraya Syndrome
148
Alkydihydroxyacetonephosphate Synthase Deficiency
149
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
150
Alpers-Huttenlocher Syndrome (AHS)
151
Alpha Thalassaemia-Mental Retardation, X-Linked
152
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
153
ALPHA-1B-ADRENERGIC RECEPTOR
154
Alpha-2-Deficient Collagen Disease
155
Al-Raqad Syndrome
156
Alstrom Syndrome
157
Alves Syndrome
158
Amaurosis Congenita of Leber 1
159
Amblyopia, Mental and Growth Retardation
160
Aminopterin/Methotrexate Embryofetopathy, Fetal Aminopterin Syndrome
161
Ampola Syndrome
162
Andersen Cardiodysrhythmic Periodic Paralysis
163
Andersen-Tawil Syndrome
164
Andre Syndrome
165
ANDROGEN RECEPTOR
166
Anemia, Congenital Dyserythropoietic, Type 1b
167
Anemia, Dyserythropoietic, Congenital Type 1
168
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
169
ANES
170
Angel Shaped Phalangoepiphyseal Dysplasia
171
Angelman-Like Syndrome
172
Angelman-Like Syndrome, X-Linked
173
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
174
Ankyloblepharon Filiforme Adnatum
175
Ankyloblepharon, Ectodermal Dysplasia, Clefting
176
Anodontia-Hypotrichosis Syndrome
177
Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformations of the
Lung, Heart, and Diaphragm
178
Antenatal Bartter Syndrome Type 1
179
Anterior Chamber Cleavage Disorder, Short Stature, Mental Retardation
180
Antley-Bixler Syndrome
181
Apert Syndrome
182
Apert-Crouzon Disease
183
Aphalangia Partial with Syndactyly and Duplication of Metatarsal IV
184
Aplasia Cutis Congenita with Epibulbar Dermoids
185
Apparent Mineralocorticoid Excess
186
Apple Peel Intestinal Atresia
187
AR
188
Arachnodactyly, Contractural Beals Type
189
Aredyld Disease
190
Armfield X-Linked Mental Retardation Syndrome
191
AROMATASE DEFICIENCY
192
AROMATASE EXCESS SYNDROME
193
Arterial Calcification of Infancy
194
Arteriosclerosis, Severe Juvenile
195
Arthrogryposis
196
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
197
Arthrogryposis, Distal, Type 5d
198
Arthromyodysplasia, Dyscephaly, Sacral Agenesis, and Hypoplastic Digits
199
Arts Syndrome
200
Arylsulfatase E Deficiency
201
Aspartylglucosamidase (AGA) Deficiency
202
Asphyxiating Thoracic Dystrophy 4
203
Asphyxiating Thorasic Dystrophy 3
204
Asthma, Short Stature, and Elevated IGA
205
Astley-Kendall Dysplasia (syndrome)
206
Asymmetric Short Stature Syndrome
207
Ataxia, Mental Retardation, Short Stature, Yamagata Type
208
Ataxia, Ocular Telangiectasia, Chromosome Instability
209
Ataxia, Photosensitivity, Short Stature
210
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
211
Atkin Syndrome
212
Atkin-Flaitz Syndrome
213
ATR-16 Syndrome
214
ATR-X Syndrome
215
Auriculoosteodsplasia
216
AUTISM
217
Autoimmune Disease, Multisystem, Infantile-Onset, 1
218
Autoimmune Polyendocrine Syndrome Type 1
219
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
220
Autosomal Dominant Cutis Laxa 3 (ADCL3)
221
Autosomal Dominant Hypophosphatemia
222
Autosomal Dominant Hypophosphatemic Rickets
223
Autosomal Dominant Spondyloepiphyseal Dysplasia, Sellick-Smithson Type
224
Autosomal Recessive Complex Spastic Paraplegia Type 9B
225
Autosomal Recessive Congenital Ichthyosis 4A
226
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis
227
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type
228
Autosomal Recessive Form of Cleidocranial Dysostosis
229
Autosomal Recessive Microcephaly, MFSD2A Gene Mutations
230
Autosomal Recessive Omodysplasia
231
Autosomal Recessive Osteopetrosis Type 2
232
Awadi/Ras-Rothschild
233
Axenfeld-Rieger Syndrome Type 1
234
Axenfield-Rieger Anomaly, Hydrocephalus, Leptomeningeal Calcification
235
Axial Spondylometaphyseal Dysplasia
236
Ayme-Gripp Syndrome
237
Bainbridge-Ropers Syndrome
238
Baller-Gerold Syndrome
239
Bangstad Syndrome
240
Bannayan-Zonana Syndrome, Ruvalcaba
241
Baraitser–Winter Cerebrofrontofacial Syndrome
242
Baraitser-Winter Syndrome 2
243
Barber-Say Syndrome
244
Barth Syndrome (Disease)
245
Bartter Syndrome
246
Bartter Syndrome, Type 1, Antenatal
247
Bartter Syndrome, Type 2, Antenatal
248
Basal Ganglia Calcification, Idiopathic, 1
249
Baxova Syndrome
250
Beals Auriculo-Osteo Dysplasia (syndrome)
251
Beals Syndrome
252
Beals-Hecht Syndrome
253
Beckwith-Wiedemann Syndrome
254
Bellini Syndrome
255
Bent Bone Dysplasia, FGFR2 Type
256
Berardinelli-Seip Syndrome
257
Berk-Tabatznik Syndrome
258
Berlin Syndrome
259
Berman Syndrome
260
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
261
Beta-Hexosaminidase-Beta-Subunit Deficiency
262
Beta-Thalassemia
263
Biemond Syndrome Il
264
Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic appearance
265
Bile Acid Synthesis Defect, Congenital, 5
266
Bilginturan Syndrome
267
Bindewald Ulmer Muller Syndrome
268
Bird-headed Dwarfism with Progressive Ataxia, Insulin-Resistant Diabetes, Goiter and
Primary Gonadal Insufficiency
269
Bird-Headed Dwarfism, Montreal Type
270
Bird-Headed Dwarfism, Seckel Type
271
Bixler-Christian-Gorlin Syndrome
272
Blepharofacioskeletal Syndrome
273
Blepharophimosis
274
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
275
Blepharophimosis, Coloboma, Deafness, Polydactyly
276
Blepharophimosis, Deafness, Mental Retardation, Short Stature, Camptodactyly
277
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
278
Blepharophimosis, Ptosis, Syndactyly, Short Stature, Autosomal Recessive
279
Blepharophimosis-Ptosis-Intellectual Disability Syndrome, UBE3B Deficiency
280
Blepharoptosis, Cleft Lip-Palate, Ectrodactyly, Dental Anomalies
281
Blomstrand Chondrodysplasia
282
Blomstrand Lethal Chondrodysplasia
283
Bloom Syndrome
284
Bloom-Torre-Machacek Syndrome
285
BOD Syndrome
286
BOFS Syndrome
287
Bohring Syndrome
288
Bohring-Opitz Syndrome
289
Bone Dysplasia Lethal Holmgren Type
290
Bone Dysplasia, Osteoporosis, Bowing, Fractures
291
Bone Dysplasia, Rosenberg-Lohr Type
292
Bone Fragility, Contractures, Arterial Rupture, Deafness
293
Bonnemann Meinecke Reich Syndrome
294
Boomerang Dysplasia
295
Boomerang-Like Skeletal Dysplasia
296
Borjeson Syndrome
297
Borjeson-Forssman-Lehmann Syndrome
298
Borrone Dermatocardioskeletal Syndrome
299
Borrone Di Rocco Crovato Syndrome
300
BOS Syndrome
301
Boucher-Neuhauser Syndrome
302
Boudhina Yedes Khiari Syndrome
303
Bowed Long Bones, Dysmorphic Facies, Cystic Hygroma
304
Bowed Tibiae, Radial Ray Defects, Osteopenia
305
Bowen Hutterite Syndrome (formerly)
306
Bowen-Conradi Hutterite Syndrome
307
Bowen-Conradi Syndrome
308
Bowing of Legs, Anterior, with Dwarfism
309
BPES
310
Brachmann-De Lange Syndrome (BdLS)
311
Brachydactyly
312
Brachydactyly and Hypertension Syndrome
313
Brachydactyly Mental Retardation Syndrome (BDMR)
314
Brachydactyly Syndrome
315
Brachydactyly Type E
316
Brachydactyly, Coloboma, Anterior Segment Dysgenesis
317
Brachydactyly, Distal Symphalangism, Talipes
318
Brachydactyly, HAWS Type
319
Brachydactyly, Mononen Type
320
Brachydactyly, Short Stature, Facial Anomalies
321
Brachydactyly, Syndactyly, Short Stature, Microcephaly, Mental Retardation
322
Brachydactyly, Type A1
323
Brachydactyly, Type A4
324
Brachydactyly, Type C
325
Brachydactyly, Type E
326
Brachydactyly, Type E1
327
Brachydactyly, Type E2
328
Brachydactyly-Distal Symphalangism Syndrome
329
Brachymelic Primordial Dwarfism
330
Brachymesomelia and Peters' Anomaly
331
Brachymesophalangy with Mesomelic Short Limbs and Carpal and Tarsal Osseous Abnormalities
332
Brachymetapody, Anodontia, Hypotrichosis
333
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
334
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
335
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes
336
Brachyolmia Maroteaux Type
337
Brachyolmia Type 2
338
Brachyolmia Type 3
339
Brachyolmia, Amelogenesis Imperfecta
340
Brachyolmia, Autosomal Dominant
341
Brachyolmia, Hobaek Type
342
Brachyolmia, Maroteaux Type
343
Brachyolmia, Toledo Type
344
Brachyolmia, Type 4
345
Brachyphalangy, Tibial Aplasia, Polydactyly
346
Brachytelephalangic Chondrodysplasia Punctata
347
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
348
Brain Malformations and Urinary Tract Defects
349
Branchial Arch Syndrome, X-Linked
350
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate
Nasolacrimal Duct and Premature Aging
351
Branchiogenic-Deafness Syndrome
352
Branchiooculofacial Syndrome
353
Branchiootic Syndrome 1
354
Branchio-Oto-Cardio-Skeletal Syndrome
355
Branchiootorenal Syndrome
356
Branchio-Skeleto-Genital Syndrome
357
BRESEK Syndrome
358
Breunzell Syndrome, Berardinelli-Seip Congenital, Type 2
359
Brittle Bone Disorder, Nishimura Type
360
Brittle Cornea Syndrome 1
361
Broad Thumb-Hallux Syndrome
362
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
363
Brooks Wisniewski Brown Syndrome
364
Bruck Syndrome 1
365
Bruck Syndrome 2
366
Bullous Dystrophy, Hereditary Macular Type
367
Burn-Mckeown Syndrome
368
Burton Skeletal Dysplasia
369
Buschke-Ollendorff Syndrome
370
C Syndrome
371
C3ORF5
372
CABEZAS Syndrome
373
Café-Au-Lait Macules with Pulmonary Stenosis
374
Calvarial Hyperostosis
375
CAMFAK Syndrome
376
CAMOS Syndrome
377
Campomelia, Cumming Type
378
Campomelic Dysplasia
379
Camptodactyly
380
Camptodactyly Syndrome Guadalajara Type 1
381
Camptodactyly Syndrome Guadalajara Type 2
382
Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases
383
Camptodactyly, Joint Contractures, Facial, Skeletal Defects
384
Camptodactyly, Tall Stature, Hearing Loss Syndrome
385
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
386
Camptodactyly-Ichthyosis Syndrome
387
Camptodactyly-Limited Jaw Excursion, Dutch-Kennedy Syndrome, Mouth, Inability to
Open Completely and Short Finger-Flexor Tendons
388
CAMRQ1
389
CAMRQ2
390
CAMTA1
391
Camurati-Engelmann Disease
392
Camurati-Engelmann Disease, Type 2
393
Cancer
394
Candidiasis, Familial, 7
395
CANPMR Syndrome
396
Cantalamessa Baldini Ambrosi Syndrome
397
Cantu Syndrome
398
Cantu-Sanchez-Corona Hernandez Syndrome
399
Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck,
Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth
400
Capillary Malformation Syndrome
401
CAPOS Syndrome
402
Carbohydrate Deficient Glycoprotein Syndrome Type 2
403
Carbohydrate Deficient Glycoprotein Syndrome Type 2a
404
CARBOHYDRATE SULFOTRANSFERASE 8
405
Carcinoid Syndrome
406
Cardiac Disease
407
Cardiocranial Syndrome
408
Cardiofacial Syndrome
409
Cardiofacial Syndrome, Short Limbs
410
Cardiofaciocutaneous Syndrome
411
Cardiofaciocutaneous Syndrome 1
412
Cardiofaciocutaneous Syndrome 4
413
Cardiomelic Syndrome, Stratton-Koehler Type
414
Cardiomyopathic Mitochondrial DNA Depletion Syndrome 10
415
Cardiomyopathy
416
Cardiomyopathy and Cataract
417
Cardiomyopathy, Familial Hypertrophic
418
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
419
Cardio-Skeletal Syndrome
420
Cardioskeletal Syndrome, Kuwaiti Type
421
Cardiospondylocarpofacial Syndrome
422
Carey-Fineman-Ziter Syndrome
423
Carnevale Syndrome
424
Carnevale, Mingarelli, Malpuech and Michels Syndromes
425
Carney Complex
426
Carpenter Syndrome
427
Carpenter-Waziri Syndrome
428
Cartilage-Derived Morphogenetic Protein 1
429
Cartilage-Hair Hypoplasia (CHH)
430
CASK-Related Disorders
431
CASM Syndrome
432
Caspase-8 Deficiency
433
Castleman Disease
434
Castleman's Syndrome
435
Cat Eye Syndrome
436
Cataract
437
Cataract and Cardiomyopathy
438
Cataract, Aberrant Oral Frenula, and Growth Retardation
439
Cataract, Ataxia, Mental Retardation, Deafness, Polyneuropathy
440
Cataract, Mental Retardation, Dentate Gyrus Atrophy
441
Cataract-Ataxia-Deafness-Retardation Syndrome
442
Cataract-Deafness-Hypogonadism Syndrome
443
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-ensorineural Hearing
Loss-Skeletal Dysplasia Syndrome
444
Cataracts, Aniridia, Anophthalmia-Microphthalmia, CNS Defects
445
Cataracts, Ataxia, Short Stature, and Mental Retardation
446
Cataracts, Contractures, Cortical Dysplasia, Cerebellar Atrophy, Osteoporosis, Growth
& Mental Retardation
447
Cataracts, Deafness, Short Stature, Hypertrichosis, Hypogonadism
448
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss,
and Skeletal Dysplasia
449
Cataracts, Malabsorption, Respiratory and Renal Disease
450
Cataracts, Motor System Disorder, Short Stature, Learning Difficulties, and Skeletal
Abnormalities
451
Cataracts, Short Stature, Motor Neuronopathy
452
Catel-Manzke Syndrome
453
CATMANS
454
CATSHL
455
Catshl Syndrome
456
Caudal Appendage-Deafness Syndrome
457
Caudal Appendage-Short Terminal Phalanges-Deafness Syndrome
458
Cavum Septum Pellucidum, Seizures, Mental Retardation
459
Cayler Cardiofacial Syndrome
460
cblC
461
CblJ Defects
462
CCA
463
CCDS1
464
CCHS
465
CCM Syndrome
466
CDG Syndrome Type IIa
467
CDG Syndrome Type IIk
468
CDG In
469
CDG1Q
470
CDG2A
471
CDG2M
472
CDG2N
473
CDGIa
474
CDGIIa
475
CDG-IIa
476
CDGIIc
477
CDGIIg
478
CDGIIk
479
CDGIIn
480
CDGIn
481
CDGIt
482
CDGS2
483
CDGS2, FORMERLY
484
CDKL5
485
CDKL5 Early-Onset Encephalopathy
486
CDKL5 Gene Duplication
487
CDMP1
488
Cecato De Lima Pinheiro Syndrome
489
Celiac Disease
490
Cenani Syndactylism
491
Cenani-Lenz Type Syndactyly Syndrome
492
Central Hypothyroidism, Testicular Enlargement
493
Central Precocious Puberty
494
Central Sclerosis, Bamboo Hair, Ichthyosis
495
Centromeric Instability of Chromosomes 1,9 and 16 and Immunodeficiency
496
Centronuclear Myopathy, Hypertelorism, Cafe Au Lait Spots
497
Cephaloskeletal Dysplasia
498
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
499
Cerebellar Ataxia, Developmental Deletionay, Failure to Thrive
500
Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive
501
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1
502
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2
503
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion
504
Cerebellar Hypoplasia with Endosteal Sclerosis
505
Cerebellar Hypoplasia, Congenital Lymphoedema
506
Cerebellar Hypoplasia, Endosteal Sclerosis, Mental Retardation
507
Cerebellar Hypoplasia, Nonprogressive Norman Type
508
Cerebellar Hypoplasia, VLDLR-Associated
509
Cerebellofaciodental Syndrome
510
Cerebello-Oculo-Renal Syndrome, Male Infertility, NPHP4 Mutations
511
Cerebellooculorenal Syndrome, Type 1
512
Cerebello-Trigeminal-Dermal Dysplasia
513
Cerebral Aneurysm-Cirrhosis Syndrome
514
Cerebral Calcification, Opalescent Teeth, Phosphaturia
515
Cerebral Calcification-Cerebellar Hypoplasia
516
Cerebral Calcifications, Kahn-Markowitz Type
517
Cerebral Creatine Deficiency Syndrome 1
518
Cerebral Dysgenesis, Neuropathy, Ichthyosis, Palmoplantar Keratoderma Syndrome
519
Cerebral Gigantism
520
Cerebral Gigantism Jaw Cysts
521
Cerebral Lactic Acidosis
522
Cerebral Palsy
523
Cerebral Palsy Spastic Diplegic
524
Cerebral, Ocular, Dental Auricular, and Skeletal Anomalies Syndrome
525
Cerebro Facio Thoracic Dysplasia
526
Cerebro Oculo Skeleto Renal Syndrome
527
Cerebroarthrodigital Syndrome
528
Cerebro-Cerebellar Lissencephaly Variant
529
Cerebro-Costo-Mandibular Syndrome
530
Cerebrofacioarticular Syndrome
531
Cerebrofaciothoracic Dysplasia
532
Cerebrofrontofacial Syndrome
533
Cerebrohepatoeenal Syndrome
534
Cerebro-Oculo-Facio-Skeletal Syndrome
535
Cerebro-Oculo-Facio-Skeletal Syndrome 4
536
Cerebro-Oculo-Hepato-Renal Syndrome
537
Cerebro-Oculo-Skeletal-Renal Syndrome
538
Cerebro-Renal-Digital Syndrome, Lurie (G) Type
539
Cerebro-Renal-Digital Syndrome, Piantanida Type
540
Cerebro-Reno Digital Syndrome
541
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
542
Cerebroretinal Microangiopathy with Calcifications and Cysts 1
543
Cerebroretinal Microangiopathy, Calcification, Cysts 2
544
Cervicooculoacoustic Syndrome
545
CF
546
Chadarevian-Kaplan Syndrome
547
Chagas Disease
548
Chanarin Dorfman Syndrome
549
Char Douglas Dungan Syndrome
550
Charcot-Marie-Tooth
551
Charcot-Marie-Tooth Disease Type 2C
552
Charcot-Marie-Tooth Disease with Other Defects
553
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C
554
Charcot-Marie-Tooth Neuropathy, Type 2C
555
CHARGE Syndrome
556
Charlie M Syndrome
557
Cherubism, Gingival Fibrsis, and Short Stature
558
Cherubism, Optic Atrophy, Short Stature
559
CHILD Syndrome
560
Childhood Multiple Sclerosis
561
Childhood-Onset Choreoathetosis with Spasticity, Postnatal Microcephaly, Growth and
Mental Retardation, Ophthalmoplegia, and Deafness
562
Childhood-Onset Hypophosphatasia
563
Childhood-Onset Nemaline Myopathy
564
Childhood-Onset Neurodegeneration, Ataxia, Dystonia, Gaze Palsy
565
Childhood-Onset Phosphoethanolaminuria
566
Childhood-Onset Rathburn Disease
567
CHIME Syndrome
568
Chitayat-Hall Syndrome
569
Chitty Hall Baraitser Syndrome
570
Chitty-Baraitser Syndrome
571
Choanal Atresia, Hypothelia, Speech Deletionay
572
Choanal Atresia, Hypothelia-Athelia, Hypoplastic Thyroid
573
Choanal Atresia, Maxillary Hypoplasia, Prognathism, Hypodontia
574
Cholestasis, Progressive Familial Intrahepatic
575
Cholestasis, Progressive Familial Intrahepatic 2
576
Chondrodyslasia
577
Chondrodyslasia, Megarbane-Dagher-Melki Type
578
Chondrodysplasia Calcificans Congenita
579
Chondrodysplasia Calcificans Metaphysealis
580
Chondrodysplasia Grebe Type
581
Chondrodysplasia Lethal Recessive
582
Chondrodysplasia Ossificans Metaphysealis
583
Chondrodysplasia Pseudohermaphroditism Syndrome
584
Chondrodysplasia Punctata 1, X-Linked Recessive
585
Chondrodysplasia Punctata 2, X-Linked Dominant
586
Chondrodysplasia Punctata Brachytelephalangic
587
Chondrodysplasia Punctata Congenita
588
Chondrodysplasia Punctata, Autosomal Dominant
589
Chondrodysplasia Punctata, Brachytelephalangic, Zizka Type
590
Chondrodysplasia Punctata, Humero-Metacarpal Type
591
Chondrodysplasia Punctata, Mild-Symmetrical Type
592
Chondrodysplasia Punctata, Mortier Type
593
Chondrodysplasia Punctata, MT Type
594
Chondrodysplasia Punctata, Rhizomelic, Type 1
595
Chondrodysplasia Punctata, Rhizomelic, Type 2
596
Chondrodysplasia Punctata, Rhizomelic, Type 3
597
Chondrodysplasia Punctata, Tibia-Metacarpal Type
598
Chondrodysplasia Punctata, Toriello Type
599
Chondrodysplasia Punctata, Toriello-Miller Type
600
Chondrodysplasia Punctata, X-Linked Dominant Type
601
Chondrodysplasia Punctata, X-Linked Recessive
602
Chondrodysplasia with Hemangioma
603
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly and
Microphthalmia
604
Chondrodysplasia, Blomstrand Type
605
Chondrodysplasia, Joint Dislocations, Grapp Type
606
Chondrodysplasia, Joint Dislocations, IMPAD1 Mutations
607
Chondrodysplasia, Joint Dislocations, Megarbane-Ghanem Type
608
Chondrodysplasia, Megarbane-Dagher-Melki Type
609
Chondrodysplasia-Pseudohermaphroditism Syndrome
610
Chondrodystrophia Calcificans Congenita
611
Chondrodystrophic Myotonia
612
Chondroectodermal Dysplasia with Night Blindness
613
Chondroectodermal Dysplasia-Like Syndrome
614
CHOPS Syndrome
615
Choreoacanthocytosis
616
Choreoathetosis with Mental Retardation X- linked
617
Chorioamnionitis
618
Chorioretinal Dysplasia, Microcephaly, Mental Retardation
619
Chorioretinal Dystrophy, Cerebellar Ataxia, Hypogonadism
620
Choroideremia Hypopituitarism
621
Choroideremia, Deafness, Obesity
622
Christian Syndrome
623
Chrome 1q Duplication Disorders
624
Chromophobe Renal Cell Carcinoma
625
Chromosomal Disease
626
Chromosome 1, Deletion 1p(p21-p32)
627
Chromosome 1, Deletion 1p(p32.1p32.3)
628
Chromosome 1, Deletion 1p32-1p31
629
Chromosome 1, Deletion 1p34
630
Chromosome 1, Deletion 1p36
631
Chromosome 1, Deletion 1q(q25q32)
632
Chromosome 1, Deletion 1q24-q25
633
Chromosome 1, Deletion 1q43-q44 Syndrome
634
Chromosome 1, Distal 1q Trisomy
635
Chromosome 1, Duplication 1(q23.1q31.1)
636
Chromosome 1, Duplication 1p
637
Chromosome 1, Duplication 1q
638
Chromosome 1, Duplication 1q(q12q22)
639
Chromosome 1, Duplication 1q(q25q32)
640
Chromosome 1, Duplication 1q21.1
641
Chromosome 1, Duplication 1q41-qter
642
Chromosome 1, Interstitial Deletion 1p
643
Chromosome 1, Interstitial Deletion 1q(q24.1q25.3)
644
Chromosome 1, Microdeletion 1q21.1
645
Chromosome 1, Microdeletion 1q41q42
646
Chromosome 1, Microdeletion 1q41-q42
647
Chromosome 1, Microduplication 1p34.1
648
Chromosome 1, Mosaic Trisomy 1
649
Chromosome 1, Proximal 1p36 Deletion
650
Chromosome 10, Deletion 10p11-p12
651
Chromosome 10, Distal Deletion 10q
652
Chromosome 10, Distal Trisomy 10
653
Chromosome 10, Distal Trisomy 10q
654
Chromosome 10, Duplication 10(q11-q22)
655
Chromosome 10, Duplication 10q
656
Chromosome 10, Interstitial Deletion 10q
657
Chromosome 10, Monosomy 10p
658
Chromosome 10, Partial Deletion 10p
659
Chromosome 10p Deletion
660
Chromosome 10q Deletion (10)(q26.1q26.3)
661
Chromosome 10q26 Deletion Syndrome
662
Chromosome 11 Deletion 11p13 Syndrome
663
Chromosome 11 Deletion 11q14.3q21
664
Chromosome 11 Deletion 11q23.3qtr
665
Chromosome 11, Interstitial Deletion 11q
666
Chromosome 11, Microduplication 11p15.4
667
Chromosome 11, Microtriplication 11q24.1
668
Chromosome 11, Mosaic Trisomy 11
669
Chromosome 11, Partial Deletion 11p
670
Chromosome 11, Partial Monosomy 11q
671
Chromosome 11, Partial Trisomy 11q
672
Chromosome 11, Terminal Duplication 11q
673
Chromosome 12, De Novo Trisomy 12q23.1q24.33
674
Chromosome 12, Deletion 12p
675
Chromosome 12, Deletion 12q24.31 -q24.33
676
Chromosome 12, Duplication 12p
677
Chromosome 12, Interstitial Deletion 12q
678
Chromosome 12, Microdeletion 12q13.13
679
Chromosome 12, Microdeletion 12q14
680
Chromosome 12, Microdeletion 12q21.31q21.32
681
Chromosome 12, Mosaic Partial Duplication 12q
682
Chromosome 12, Mosaic Trisomy 12
683
Chromosome 12, Partial Duplication 12q
684
Chromosome 12p Duplication
685
Chromosome 12q Duplication
686
Chromosome 12q13.13q13.13 Microduplication and Microdeletion
687
Chromosome 13 Deletion 13q12.1-14.1
688
Chromosome 13, Deletion 13q14
689
Chromosome 13, Deletion 13q33-q34
690
Chromosome 13, Interstitial Deletion 13q
691
Chromosome 13, Microduplication 13q31.3
692
Chromosome 13, Partial Duplication 13p
693
Chromosome 13, Partial Duplication 13q
694
Chromosome 13, Trisomy 13
695
Chromosome 13q Duplication
696
Chromosome 13q14 Deletion Syndrome
697
Chromosome 14 Interstitial Deletion 14q24-q32
698
Chromosome 14, Deletion 14q11.22
699
Chromosome 14, Deletion 14q12
700
Chromosome 14, Deletion 14q23
701
Chromosome 14, Deletion 14q31 and 14q32.12
702
Chromosome 14, Interstitial Deletion 14q(q22q23)
703
Chromosome 14, Microdeletion 14q12
704
Chromosome 14, Microdeletion 14q12, Rett Syndrome-Like PhenoType
705
Chromosome 14, Mosaic Trisomy 14
706
Chromosome 14, Proximal 14q Duplication
707
Chromosome 14, Ring Chromosome 14
708
Chromosome 14, Trisomy Mosaic
709
Chromosome 14q11-q22 Deletion Syndrome
710
Chromosome 15, Deletion 15q(q15q22.1)
711
Chromosome 15, Deletion 15q11.2
712
Chromosome 15, Deletion 15q11–q14
713
Chromosome 15, Deletion 15q21
714
Chromosome 15, Deletion 15q26-qter
715
Chromosome 15, Distal Trisomy 15
716
Chromosome 15, Distal Trisomy 15q
717
Chromosome 15, Duplication 15q
718
Chromosome 15, Interstitial Deletion 15q(q21q25)
719
Chromosome 15, Microdeletion 15q13.3
720
Chromosome 15, Microdeletion 15q24
721
Chromosome 15, Microdeletion 15q25.2
722
Chromosome 15, Microdeletion 15q26.1
723
Chromosome 15, Proximal Deletion 15q
724
Chromosome 15, Tetrasomy 15q
725
Chromosome 15, Trisomy 15q2
726
Chromosome 15q11q13 Duplication Syndrome
727
Chromosome 15q14 Deletion Syndrome
728
Chromosome 15q21.1 Deletion
729
Chromosome 15q24 Deletion Syndrome
730
Chromosome 15q24 Duplication Syndrome, Included
731
Chromosome 15q25 Deletion Syndrome
732
Chromosome 15q26-qter Deletion Syndrome
733
Chromosome 16 [Deletion(16)(q23.1q24.2)
734
Chromosome 16, Duplication 16p11.2-p12.2
735
Chromosome 16, Interstitial Deletion 16q
736
Chromosome 16, Microdeletion 16p11.2, Autism Spectrum Disorder
737
Chromosome 16, Microdeletion 16p12.1
738
Chromosome 16, Microdeletion 16q11.2q12.2
739
Chromosome 16, Microdeletion 16q24.3
740
Chromosome 16, Microduplication 16p11.2
741
Chromosome 16, Microduplication 16p13.3
742
Chromosome 16, Partial Duplication 16p
743
Chromosome 16, Trisomy 16
744
Chromosome 16p12.2-p11.2 Deletion Syndrome, 7.1- to 8.7-MB
745
Chromosome 16p13.3 Deletion Syndrome
746
Chromosome 16p13.3 Deletion Syndrome, Proximal
747
Chromosome 16p13.3 Duplication Syndrome
748
Chromosome 16q22 Deletion Syndrome
749
Chromosome 16-Related Alpha-Thalassemia/Mental Retardation Syndrome
750
Chromosome 17 Trisomy Mosaicism
751
Chromosome 17, Deletion 17p13.1-p11.2
752
Chromosome 17, Duplication 17p11.2
753
Chromosome 17, Duplication 17p12
754
Chromosome 17, Duplication 17q21.2
755
Chromosome 17, Microdeletion 17q12
756
Chromosome 17, Microdeletion 17q21.31
757
Chromosome 17, Microdeletion 17q23.1q23.2
758
Chromosome 17, Microduplication 17q11.2
759
Chromosome 17, Microduplication 17q21.31
760
Chromosome 17, Microduplication 17q23.2
761
Chromosome 17, Microduplication 17q25.3
762
Chromosome 17, Mosaic Trisomy 17
763
Chromosome 17, Partial Duplication 17p
764
Chromosome 17, Partial Duplication 17q
765
Chromosome 17p Duplication
766
Chromosome 17p13.1 Deletion Syndrome
767
Chromosome 17p13.3 Deletion Syndrome, INCLUDED
768
Chromosome 17p13.3 Duplication Syndrome
769
Chromosome 17p13.3, Centromeric, Duplication Syndrome
770
Chromosome 17q Deletion
771
Chromosome 17q11.2 Deletion Syndrome, 1.4Mb
772
Chromosome 17q12 Deletion Syndrome
773
Chromosome 17q21.31 Duplication Syndrome
774
Chromosome 17q23.1-q23.2 Duplication Syndrome
775
Chromosome 18 Distal 18q Deletion Syndrome
776
Chromosome 18, Deletion 18p11.3
777
Chromosome 18, Interstitial Deletion 18q
778
Chromosome 18, Microdeletion 18q11.2
779
Chromosome 18, Monosomy 18p
780
Chromosome 18, Partial Deletion 18q
781
Chromosome 18, Proximal Deletion 18q
782
Chromosome 18, Trisomy 18
783
Chromosome 18, Trisomy 18p
784
Chromosome 18p Deletion Syndrome
785
Chromosome 18p Duplication
786
Chromosome 18q- Syndrome
787
Chromosome 19- Trisomy 19q
788
Chromosome 19, Deletion 19p13.3 Microdeletion
789
Chromosome 19, Deletion 19p13.3, Deletion of MAP2K2/MEK2
790
Chromosome 19, Deletion 19q12q13.1
791
Chromosome 19, Deletion/Duplication 19p13.13
792
Chromosome 19, Interstitial Duplication 19p
793
Chromosome 19, Microduplication Terminal 19p
794
Chromosome 19, Mosaic Trisomy 19
795
Chromosome 19, Partial Trisomy 19p13
796
Chromosome 19q13.11 Deletion Syndrome
797
Chromosome 19q13.11 Deletion Syndrome, Distal
798
Chromosome 1p Duplication
799
Chromosome 1p32-p31 Deletion Syndrome
800
Chromosome 1q Duplication
801
Chromosome 1q21.1 Deletion Syndrome
802
Chromosome 1q21.1 Deletion Syndrome, 1.35Mb
803
Chromosome 1q21.1 Microdeletion Syndrome
804
Chromosome 1q41-Q42 Deletion Syndrome
805
Chromosome 2, 2p23 Microdeletion
806
Chromosome 2, Deletion 2p12-p11.2
807
Chromosome 2, Deletion 2p16.3 with NRXN1 Deletions
808
Chromosome 2, Deletion 2pter
809
Chromosome 2, Deletion 2q37
810
Chromosome 2, Duplication 2q21-q33
811
Chromosome 2, Duplication 2q3
812
Chromosome 2, Duplication2q11.1-q13.2
813
Chromosome 2, Interstitial Deletion 2p
814
Chromosome 2, Interstitial Deletion 2q(q13q22)
815
Chromosome 2, Microdeletion 2q31.1
816
Chromosome 2, Microdeletion 2q31.1-q31.2
817
Chromosome 2, Microdeletion 2q33.1
818
Chromosome 2, Microduplication in 2p16-2p22
819
Chromosome 2, Mosaic Trisomy 2
820
Chromosome 2, Partial Trisomy 2p
821
Chromosome 2, Terminal Deletion 2q
822
Chromosome 20 Ring
823
Chromosome 20, Deletion 20q(q13.32-13.33)
824
Chromosome 20, Deletion 20q13 x 11
825
Chromosome 20, Duplication 20q11.2
826
Chromosome 20, Microdeletion q11.21
827
Chromosome 20, Mosaic Trisomy 20
828
Chromosome 20, Partial Duplication 20q
829
Chromosome 20p Deletions
830
Chromosome 21 Ring
831
Chromosome 21, Deletion 21q22.1q22.3
832
Chromosome 21, Interstitial Deletion 21q(q11-q21.3)
833
Chromosome 21, Monosomy 21
834
Chromosome 22, Deletion 22q11.2 Syndrome
835
Chromosome 22, Deletion 22q13
836
Chromosome 22, Duplication 22(pter-q11) Duplication 11(q23-qter)
837
Chromosome 22, Microduplication 22q11.2
838
Chromosome 22, Microduplication 22q13
839
Chromosome 22, Partial Deletion 22q
840
Chromosome 22, Trisomy 22
841
Chromosome 2p, Deletion 2p12-p11.2
842
Chromosome 2p, Deletion Syndrome
843
Chromosome 2p16.1 Deletion Syndrome
844
Chromosome 2p16.1P15 Deletion Syndrome
845
Chromosome 2q31.1 Duplication Syndrome
846
Chromosome 2q35-q36.2 Deletion
847
Chromosome 2q37 Deletion Syndrome
848
Chromosome 3 Deletion, 3p14.12 Syndrome
849
Chromosome 3 Duplication Syndrome
850
Chromosome 3 Open Reading Frame 5
851
Chromosome 3, 3q26.33‐3q28 Microdeletion
852
Chromosome 3, Deletion 3p
853
Chromosome 3, Deletion 3p14p12
854
Chromosome 3, Deletion 3p22.3p22.2
855
Chromosome 3, Deletion 3p25.3
856
Chromosome 3, Deletion 3q13.2-q13.31
857
Chromosome 3, Deletion 3q21.1q21.3
858
Chromosome 3, Deletion 3q27-qter
859
Chromosome 3, Deletion 3q28-29
860
Chromosome 3, Distal 3q2 Duplication
861
Chromosome 3, Duplication 3p25.3
862
Chromosome 3, Interstitial Deletion 3p(p12p14)
863
Chromosome 3, Interstitial Deletion 3p22.2-p24.2
864
Chromosome 3, Microdeletion 3q13.31
865
Chromosome 3, Microdeletion 3q26.32
866
Chromosome 3, Microdeletion 3q26.33-3q27.2
867
Chromosome 3, Microduplication 3q13.31
868
Chromosome 3, Monosomy 3p25
869
Chromosome 3, Mosaic Trisomy 3
870
Chromosome 3, Partial Duplication 3p
871
Chromosome 3, Partial Duplication 3q
872
Chromosome 3, Partial Duplication 3q and Deletion 3p
873
Chromosome 3, Trisomy 3q2
874
Chromosome 3p Deletion
875
Chromosome 3p Duplication
876
Chromosome 3p- Syndrome
877
Chromosome 3pter-p25 Deletion Syndrome
878
Chromosome 4, 4p16.3 Microdeletion
879
Chromosome 4, Duplication 4p16.3
880
Chromosome 4, Interstitial Deletion 4p
881
Chromosome 4, Interstitial Deletion 4q
882
Chromosome 4, Microdeletion 4q21
883
Chromosome 4, Monosomy 4q
884
Chromosome 4, Monosomy Distal 4q
885
Chromosome 4, Mosaic Trisomy 4
886
Chromosome 4, Partial Trisomy 4p
887
Chromosome 4, Trisomy 4p
888
Chromosome 4p Deletion
889
Chromosome 4p Duplication
890
Chromosome 4p16.3 Duplication
891
Chromosome 4pter-p16.3 Duplication
892
Chromosome 4q Deletion
893
Chromosome 5 Deletion, 5p15.2-5p15.3
894
Chromosome 5, 5q35 Microduplication
895
Chromosome 5, Distal Duplication 5q
896
Chromosome 5, Distal Duplication 5q ter
897
Chromosome 5, Distal Duplication 5q31 (32/33)
898
Chromosome 5, Duplication 5p13
899
Chromosome 5, Microdeletion 5q14.3
900
Chromosome 5, Mosaic Trisomy 5
901
Chromosome 5, Partial Deletion 5p
902
Chromosome 5, Subtelomeric Deletion 5q
903
Chromosome 5, Subtelomeric Deletion 5q Syndrome
904
Chromosome 5, Trisomy 5p, Complete (5p11-ter), Included
905
Chromosome 5p Deletions
906
Chromosome 5p Duplication
907
Chromosome 5q12 Deletion Syndrome
908
Chromosome 5q14.3 Deletion Syndrome, Proximal, Included
909
Chromosome 6 Ring
910
Chromosome 6, 6p Duplication
911
Chromosome 6, Deletion 6q11-q16
912
Chromosome 6, Deletion 6q16
913
Chromosome 6, Deletion 6q27
914
Chromosome 6, Microdeletion 6p25
915
Chromosome 6, Terminal Deletion 6q
916
Chromosome 6, Terminal Deletion 6q21-qter
917
Chromosome 6p Deletion
918
Chromosome 6q11-q14 Deletion Syndrome
919
Chromosome 6q24-q25 Deletion Syndrome
920
Chromosome 7 Ring Syndrome
921
Chromosome 7, 7p Deletion Syndrome, Partial
922
Chromosome 7, Deletion 7p15.2-p14.3
923
Chromosome 7, Deletion 7p15.3-p21.2
924
Chromosome 7, Deletion 7q11.21-q11.23
925
Chromosome 7, Deletion 7q11.22-q11.23
926
Chromosome 7, Deletion 7q36
927
Chromosome 7, Interstitial Deletion 7p
928
Chromosome 7, Interstitial Deletion 7q
929
Chromosome 7, inv(7)(q21.3q35)
930
Chromosome 7, Microdeletion 7q22.2-q22.3
931
Chromosome 7, Microduplication 7p22
932
Chromosome 7, Microduplication 7q21.2-7q31.31
933
Chromosome 7, Microduplication 7q21-7q32
934
Chromosome 7, Mosaic Trisomy 7
935
Chromosome 7, Partial Monosomy 7p
936
Chromosome 7p13.3, Centromeric, Duplication Syndrome
937
Chromosome 7q Deletions Between 7q21 & 7q32
938
Chromosome 7q11.23 Deletion Syndrome, 1.5- TO 1.8-MB
939
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
940
Chromosome 8 Deletion q24 De Novo
941
Chromosome 8, 8q24.3 Deletion Syndrome
942
Chromosome 8, Deletion 8q
943
Chromosome 8, Deletion 8q11-q13
944
Chromosome 8, Deletion 8q22.2q22.3
945
Chromosome 8, Duplication 8p
946
Chromosome 8, Duplication 8p23.1
947
Chromosome 8, Microdeletion 8q21.11
948
Chromosome 8, Mosaic Tetrasomy 8q
949
Chromosome 8, Mosaic Trisomy 8
950
Chromosome 8, Trisomy
951
Chromosome 8p23.1 Deletion
952
Chromosome 8q21.11 Deletion Syndrome
953
Chromosome 8q22.1 Duplication Syndrome
954
Chromosome 8q24.3 Deletion Syndrome
955
Chromosome 9, 9p13
956
Chromosome 9, Complete Trisomy 9P
957
Chromosome 9, Microdeletion 9q22.3
958
Chromosome 9, Partial Deletion 9p
959
Chromosome 9, Partial Deletion 9p, Duplication 5q
960
Chromosome 9, Partial Deletion 9q
961
Chromosome 9, Partial Duplication 9p
962
Chromosome 9, Tetrasomy 9p
963
Chromosome 9, Trisomy 9
964
Chromosome 9q Deletion
965
Chromosome WAGR 11 Deletion 11p13 Syndrome
966
Chromosome X, Deletion Xp11.4-p11.3
967
Chromosome X, Deletion Xp21
968
Chromosome X, Deletion Xp22
969
Chromosome X, Deletion Xp22.31-Xp22.12
970
Chromosome X, Deletion Xp22.33
971
Chromosome X, Deletion Xp22.33-Xp22.12
972
Chromosome X, Distal Duplication Xp
973
Chromosome X, Duplication Xp
974
Chromosome X, Duplication Xp11.23-p11.4
975
Chromosome X, Duplication Xp22.11-p22.32
976
Chromosome X, Duplication Xp22.2-22.13
977
Chromosome X, Duplication Xq
978
Chromosome X, Duplication Xq27.3q28
979
Chromosome X, Duplication Xq28
980
Chromosome X, FraXq27
981
Chromosome X, Microduplication Xp11.22-p11.23
982
Chromosome X, Microduplication Xp22.31
983
Chromosome X, Microduplication Xq26.3
984
Chromosome X, Xp11.22 Microduplication Ligation Syndrome
985
Chromosome Xp11.23-p11.22 DUPLICATION SYNDROME
986
Chromosome Xp11.3 Deletion Syndrome
987
Chromosome Xp21 Deletion Syndrome
988
Chromosome Xq Duplication
989
Chromosome Xq26.3 Duplication Syndrome
990
Chromosome Xq27.3-q28 Duplication Syndrome
991
Chromosome Xq27.3Q28 Duplicationlication Syndrome
992
Chromosome Xq28 Deletion Syndrome
993
Chromosome 17q21.31 Duplication Syndrome
994
Chromosome 19p13.13 Duplication Syndrome, Included
995
Chromosome 2q31.1 Duplication Syndrome
996
Chromosome 5p13 Duplication Syndrome
997
Chromosome 5q12 Deletion Syndrome
998
Chromosome Xq28 Duplication Syndrome
999
Chrone's Disease
1000
Chronic Congenital Idiopathic Hyperphosphatasemia
1001
Chronic Fatigue Syndrome
1002
Chronic Graft Versus Host Disease
1003
Chronic Idiopathic Hyperphosphatasemia
1004
Chronic Infantile Neurological Cutaneous Articular Syndrome
1005
Chronic Kideney Disease
1006
Chronic Mucocutaneous Candidiasis
1007
Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserthropoietic Anemia, and
Neutrophilic Dermatosis
1008
CHST8
1009
Chudley Rozdilsky Syndrome
1010
Chylomicron Retention Disease
1011
Ciliary Dyskinesia, primary, 11
1012
Ciliary Dyskinesia, primary, 12
1013
Ciliary Dyskinesia, Primary, 31
1014
Circumferential Skin Creases, Kunze Type
1015
Cirrhosis, Cryptogenic
1016
Citrin Deficiency
1017
Citrulline Transport Defect
1018
CK Syndrome
1019
CLAPO Syndrome
1020
Clark-Baraitser Syndrome
1021
Clavicle, Pseudarthrosis of, Congenital
1022
Clayton-Smith-Donnai Syndrome
1023
Clear Cell Chondrosarcoma
1024
Cleft Lip/Palate
1025
Cleft Lip/Palate with Abnormal Thumbs and Microcephaly
1026
Cleft Lip-Palate, Ectodermal Dysplasia Syndrome
1027
Cleft Lip-Palate, Ectrodactyly
1028
Cleft Lip-Palate, Hypertelorism, Prominent Eyes
1029
Cleft Lip-Palate, Oligodontia, Syndactyly, Pili Torti
1030
Cleft Palate Short Stature Vertebral Anomalies
1031
Cleft Palate, Camptodactyly, Deafness
1032
Cleft Palate, Psychomotor Retardation, Distinctive Facies, KDM1A Mutations
1033
Clefting, Coloboma of Choroid, Mental Retardation
1034
Cleft-Limb-Heart Malformation Syndrome
1035
Cleidocranial Dysplasia (CCD)
1036
Cleidocranial Dysplasia Recessive Form
1037
Cleidorhizomelic Dysplasia
1038
Cleidorhizomelic Syndrome
1039
C-like Syndrome
1040
Clouston Syndrome
1041
Clove Syndrome, Somatic
1042
Cloverleaf Skull Syndrome
1043
Cloverleaf Skull-Micromelic Bone Dysplasia Syndrome
1044
Cloves Syndrome
1045
Clubfoot
1046
CMT2C
1047
COACH Syndrome
1048
COACH Syndrome-Joubert Syndrome Related
1049
Coats Plus Syndrome
1050
COATS Syndrome
1051
Cobalamin C Disease
1052
Cobalamin J Defect
1053
Cockayne Syndrome
1054
Cockayne Syndrome Type A
1055
Cockayne Syndrome Type C
1056
Cockayne Syndrome, Type B
1057
Cockayne Syndrome, Type I
1058
Cockayne Syndrome, Type II
1059
Cockayne Syndrome, Type III
1060
CODAS Syndrome
1061
Coffin-Lowry Syndrome
1062
Coffin-Siris Syndrome
1063
Coffin-Siris Syndrome 1
1064
Coffin-Siris Syndrome 2
1065
Coffin-Siris Syndrome 3
1066
Coffin-Siris Syndrome, SOX11 Mutations
1067
Coffin-Siris Syndrome 4
1068
Coffin-Siris Syndrome 5
1069
COG6 Deficiency
1070
Cohen Syndrome
1071
Cohen-Scott-Smith Syndrome
1072
Cole-Carpenter Syndrome 1
1073
Cole-Carpenter Syndrome 2
1074
Colitis
1075
Collagen Disease
1076
Collagenopathy, Types 2 and 11
1077
Coloboma of Macula with Type B Brachydactyly
1078
Coloboma, Obesity, Hypogenitalism, Mental Retardation
1079
Coloboma, Ocular with Ichtyosis, Brain Malformations, and Endocrine Abnormalities
1080
Coloboma, Osteopetrosis, Microphthalmia, Microcephaly, Albinism, Deafness
1081
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
1082
Colobomata, Unilobar Lung, Heart Defect
1083
Colobomatous Microphthalmia
1084
Colobomatous Microphthalmia, Microcephaly, Cerebellar hypoplasia
1085
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type cblJ
1086
Combined Immunodeficiency, Autoimmunity, Spondylometaphyseal Dysplasia
1087
Combined Methylmalonic Aciduria and Homocystinuria
1088
Combined Oxidative Phosphorylation Deficiency 15
1089
Combined Oxidative Phosphorylation Deficiency Type 25
1090
Combined Pituitary Hormone Deficiency
1091
Complete Androgen Insensitivity Syndrome
1092
Complete Trisomy 21 Syndrome
1093
Complex 1 Deficiency, NDUFB3 Mutation
1094
Complex Gycerol Kinase Deficiency
1095
Complex II Deficiency
1096
Cone-Rod Dystrophy
1097
Congenital Adrenal Hyperplasia
1098
Congenital Adrenal Hyperplasia, Untreated
1099
Congenital Anonychia
1100
Congenital Arthrogryposis Apold-Bindoff Type
1101
Congenital Arthrogryposis, hyperkeratosis, Apold-Bindoff Type
1102
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
1103
Congenital Central Hypoventilation Syndrome
1104
Congenital Chloride Diarrhea
1105
Congenital Contractures
1106
Congenital Disorder of Glycosylation
1107
Congenital Disorder of Glycosylation Type IIA
1108
Congenital Disorder of Glycosylation Type IIm
1109
Congenital Disorder of Glycosylation Type IIn
1110
Congenital Disorder of Glycosylation Type Iq
1111
Congenital Disorder of Glycosylation, Type Iic
1112
Congenital Disorder of Glycosylation, Type IIg
1113
Congenital Disorder of Glycosylation, Type Iik
1114
Congenital Disorder of Glycosylation, Type in
1115
Congenital Disorder of Glycosylation, Type It
1116
Congenital Disorders of Glycosylation, Type IIc
1117
Congenital Dyserythropoietic Anemia, Type IV
1118
Congenital Fiber-Type disproportion (CFTD)
1119
Congenital Generalized Lipodystrophy
1120
Congenital Heart Anomalies
1121
Congenital Heart Disease, Choanal Stenosis, Short Stature, Dysmorphic Facies
1122
Congenital Hemolytic Anemia
1123
Congenital Hepatic Fibrosis
1124
Congenital Hypoparathyroidism
1125
Congenital Hypothyroidism
1126
Congenital Hypothyroidism, Cerebellar Hypoplasia, Mental Retardation
1127
Congenital Ichthyosiform Erythroderma
1128
Congenital IGHD
1129
Congenital Isolated GH
1130
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
1131
Congenital Lymphedema
1132
Congenital Metacarpal Pseudoarthrosis, Cleft Palate, Short Stature, Advanced Bone Age,
and Genu Valgum
1133
Congenital Muscular Dystrophy
1134
Congenital Muscular Dystrophy, Cataracts, Intellectual Disability, Mutations in INPP5K
1135
Congenital Muscular Dystrophy, Gonadal Dysgenesis
1136
Congenital Muscular Dystrophy, Muntoni-Brockington Type
1137
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6
1138
Congenital Muscular Hypertrophy-Cerebral Syndrome
1139
Congenital Myopathic Arthrogryposis, Seizures
1140
Congenital Myopathy
1141
Congenital Myopathy, Compton-North Type
1142
Congenital Myopathy, Diarrhoea, Bullous Eruption of Skin, Microcephaly, Deafness
1143
Congenital Nephrotic Syndrome Finnish Type
1144
Congenital Optic Atrophy and Brachytelephalangy
1145
Congenital OsteoSclerosis, Polymicrogyria
1146
Congenital Rubella Syndrome
1147
Congenital Sensory Neuropathy, Skeletal Dysplasia
1148
Congenital Short Bowel Syndrome
1149
Congenital Telangiectatic Erythema
1150
Congenital Toxoplasmosis
1151
Congenital Trichomegaly
1152
Congenital Variant Rett Syndrome
1153
Congenital Varicella Syndrome
1154
Congestive Heart Failure
1155
Connective Tissue Disease
1156
Connective Tissue Dysplasia, Breathnach Type
1157
Conospondylar Dysplasia
1158
Conotruncal Anomaly Face Syndrome
1159
Conotruncal Heart Defect, Microphthalmia
1160
Conotruncal Heart Malformations
1161
Conradi-Hünermann Syndrome
1162
Conradi-Hünermann Syndrome, Happle Syndrome
1163
Constitutional Growth Deletionay
1164
Contractural Arachnodactyly, Congenital
1165
Contractures
1166
Contractures, Ectodermal Dysplasia, Cleft lip-Palate
1167
Contractures, Multiple with Arachnodactyly
1168
Contractures, Oedema, Hyperkeratosis, Growth Retardation
1169
Contractures, Webbed Neck
1170
Cooley’s Anemia
1171
Copper Deficiency, Familial Benign
1172
Corneal Crystals, Myopathy, Neuropathy
1173
Corneal Dermoids, Short Stature
1174
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility
1175
Cornelia de Lange Syndrome
1176
Cornelia de Lange Syndrome 2
1177
Cornelia de Lange Syndrome 3
1178
Cornelia de Lange Syndrome 4
1179
Cornelia de Lange Syndrome, X-Linked
1180
Cornelia de Lange Syndrome-Like, HDAC8 Mutations
1181
Cornelia de Lange-Like Syndrome, TAF6 Mutation
1182
Corneodermatoosseous Syndrome
1183
Coronary Heart Disease
1184
Corpus Callosum Agenesis
1185
Corpus Callosum Defects, Developmental deletionay, Short Stature, Facial Dysmorphism
1186
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
1187
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia
1188
Cortical Blindness, Polydactyly, Mental Retardation
1189
Cortical Blindness, Retardation, and Postaxial Polydactyly
1190
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
1191
CORTISONE REDUCTASE DEFICIENCY 1
1192
CORTISONE REDUCTASE DEFICIENCY 2
1193
CORTRD1
1194
CORTRD2
1195
Costello Syndrome
1196
Costovertebral Segmentation Defect with Mesomelia, Formerly
1197
COUSIN Syndrome
1198
Cowden Disease Type 2 Segmental
1199
Cowden Syndrome
1200
Coxa Plana
1201
Coxoauricular Syndrome
1202
COXPD15
1203
CPHD4
1204
CPPB2
1205
Cramer-Niederdeletionlmann Syndrome
1206
Crane-Heise Syndrome
1207
Cranio-Cerebello-Cardiac Syndrome
1208
Craniodiaphyseal Dysplasia (CDD)
1209
Craniodiaphyseal Dysplasia, Autosomal Dominant Type
1210
Craniodigital Syndrome, Intellectual Disability Syndrome
1211
CranioEctodermal Dysplasia 1
1212
CranioEctodermal Dysplasia 2
1213
CranioEctodermal Dysplasia 3
1214
CranioEctodermal Dysplasia 4
1215
CranioEctodermal Dysplasia, Lammer-Margolis Type
1216
Craniofacial Anomalies, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects
1217
Craniofacial Anomalies, Humero-Radial Synostosis, Rhizomelic Short Limbs
1218
Craniofacial Digital Genital Anomalies
1219
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome
1220
Craniofacial Dysostosis with Diaphyseal Hyperplasia
1221
Craniofacial Dysostosis, Omphalocele, Limb Defects
1222
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
1223
Craniofacial Dyssynostosis with Short Stature
1224
Craniofacial Malformations, Orstavik Type
1225
Craniofacial Syndrome
1226
Craniofacial Syndrome, Mutations in ARCN1
1227
Craniofaciofrontodigital Syndrome
1228
Craniofrontonasal Dysplasia
1229
Craniometadiaphyseal Dysplasia
1230
Craniometaphyseal Dysplasia, Autosomal Dominant Type
1231
Craniomicromelic Syndrome
1232
Cranio-Oculo-Dental Syndrome
1233
Cranio-Oro-Digital Syndrome
1234
Cranioosteoarthropathy
1235
Craniopharyngioma
1236
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and
Mandibular Ankylosis
1237
Craniosynostosis
1238
Craniosynostosis with Radial Defects
1239
Craniosynostosis, Fibular Aplasia
1240
Craniosynostosis, Hunter-McAlpine
1241
Craniosynostosis, Mental Retardation, Heart Defects
1242
Craniosynostosis, Waardenburg Type
1243
Craniosynostosis-Radial Aplasia Syndrome
1244
Craniosynostosis-Radial Aplasia, Imaizumi Type
1245
Creatine Deficiency Syndrome, X-Linked
1246
Cri Du Chat Syndrome
1247
Crisponi/CISS1 Syndrome
1248
CROGV Malformation Syndrome
1249
Crohn's Colitis
1250
Crohn's Disease
1251
Crome Syndrome
1252
Cross-McKusick-Breen Syndrome
1253
Crouzon Syndrome
1254
Crouzon Syndrome with Acanthosis Nigricans
1255
Culler-Jones Syndrome
1256
Curatolo-Cilio Pessagno Syndrome
1257
Curry-Hall Syndrome
1258
Curry-Jones Syndrome
1259
Cushing Syndrome
1260
Cutaneous Leishmaniasis
1261
Cutaneous Mastocytosis, Conductive Hearing Loss and microtia
1262
Cutaneousleishmaniasis (subtype)
1263
Cutis Laxa
1264
Cutis Laxa Type 2, Autosomal Recessive
1265
Cutis Laxa with Fibulin-4 Mutation
1266
Cutis Laxa, Dandy-Walker Malformation, Cardiac Defects
1267
Cutis Laxa, Dandy-Walker Syndrome, Immunodeficiency
1268
Cutis Laxa, Developmental Deletionay, Epiphyseal Dysplasia, Deafness
1269
Cutis Laxa, Facial Dysmorphism, Cleft Palate
1270
Cutis Laxa, Pulmonary Hypertension
1271
Cutis Laxa, Skeletal Defects, Ambiguous Genitalia
1272
Cutis Laxa, Type 1
1273
Cutis Marmorata Telangiectatica Congenita
1274
Cutis Verticis Gyrata
1275
Cutis Verticis Gyrata, Thyroid Aplasia, Mental Retardation
1276
Cyclic Vomiting Syndrome
1277
CYCLIN-DEPENDENT KINASE-LIKE 5
1278
CYP11B1
1279
CYP19A1
1280
Cystic Angiomatosis with Seip Syndrome
1281
Cystic Fibrosis
1282
Cystinosis
1283
Cytochrome C Oxidase Deficiency
1284
CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1
1285
CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1
1286
Cytomegalovirus Infection
1287
D Ercole Syndrome
1288
D-2-Hydroxyglutaric Aciduria
1289
Da Silva Syndrome
1290
Dacryocystitis
1291
Daentl Towsend Siegel Syndrome
1292
Dahlberg Borer Newcomer Syndrome
1293
Daish Hardman Lamont Syndrome
1294
Dandy-Walker Complex, Macrocephaly, Facial Anomalies
1295
Dandy-Walker Cyst, Meningocele, Microphthalmia
1296
Dandy-Walker Malformation
1297
Dandy-Walker Malformation, Facial Hemangioma
1298
Dandy-Walker Malformation, Polydactyly
1299
Danks Syndrome
1300
Dappled Metaphysis Syndrome
1301
Da-Silva Syndrome
1302
Dauwerse-Peters Syndrome
1303
D-CHRAMPS Syndrome
1304
DCMA Syndrome
1305
De Barsy Syndrome
1306
De Hauwere Syndrome
1307
De Morsier Syndrome
1308
De Novo 3q2 Trisomy with ins(8;3)
1309
De Novo Combined 5q Duplication-9p Deletion Syndrome
1310
De Novo Interstitial Deletion Deletion(1)(p2 lp32)
1311
De Sanctis-Cacchione Syndrome
1312
Deafness Enamel Hypoplasia Nail Defects
1313
Deafness Epiphyseal Dysplasia Short Stature Syndrome
1314
Deafness, Congenital, with Split Hands and Feet
1315
Deafness, Congenital, with Vitiligo and Achalasia
1316
Deafness, Epiphyseal Dysplasia, Short Stature
1317
Deafness, Femoral Epiphyseal Dysplasia, Short Stature and Developmental Delay
1318
Deafness, Pituitary Dwarfism
1319
Deafness, Ptosis, Skeletal Malformations
1320
Deafness, Renal Tubular Acidosis
1321
Deafness, Short Stature, Femoral Epiphyseal Dysplasia
1322
Deafness, Skeletal Dysplasia, lip granuloma
1323
Deafness, Vitiligo, Achalasia
1324
Deafness-Hermann Type Symphalangism Syndrome
1325
Deficiency of Glycerol Kinase
1326
Deficiency of Hyaluronoglucosaminidase
1327
Deficiency of Malonyl-CoA Decarboxylase
1328
Deficiency of Steroid 11-beta-Monooxygenase
1329
Del(17)(q11)
1330
Del(3p) Syndrome
1331
Delayed Physical Development, Erythematosquamous Eruption, Opaque Leukonychia,
Intellectual Disability, and Low Serum Lipids
1332
Deletion 17q
1333
Deletion 1q41-q42
1334
Deletion 3p
1335
Deletion 3p25
1336
Deletion 4p
1337
Deletion 4q
1338
Deletion 8q
1339
Deletion 9q
1340
DELTA, DROSOPHILA, HOMOLOG-LIKE 1
1341
DeMorsier Syndrome
1342
Dent Disease
1343
Dent Disease 2
1344
Dental Anomalies and Short Stature
1345
Dentinogenesis Imperfecta
1346
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
1347
Dento-Oculo-Osseous Dysplasia
1348
Depressor Anguli Oris Muscle, Hypoplasia of
1349
Dermatitis
1350
Dermo-Chondro-Corneal Dystrophy
1351
Dermotrichic Syndrome
1352
DeSanto-Shinawi Syndrome
1353
Desbuquois Dysplasia
1354
Desbuquois Dysplasia 2
1355
Desmosterolosis
1356
Developmental Delay, Short Stature, Dysmorphic Features, Sparse Hair, Mutations in DPH1
1357
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications
1358
Devriendt Syndrome
1359
Dextrocardia
1360
Diabetes Insipidus, Nephrogenic
1361
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification
1362
Diabetes Mellitus, Noninsulin-Dependent
1363
Diabetes Mellitus, Cerebellar Hypoplasia
1364
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigrican
1365
Diabetes, Ataxia, Proximal Tubulopathy
1366
Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis
1367
Diamond-Blackfan Anemia (Syndrome)
1368
Diamond-Blackfan Anemia 1
1369
Diamond-Blackfan Anemia 10
1370
Diamond-Blackfan Anemia 11
1371
Diamond-Blackfan Anemia 12
1372
Diamond-Blackfan Anemia 3
1373
Diamond-Blackfan Anemia 4
1374
Diamond-Blackfan Anemia 5
1375
Diamond-Blackfan Anemia 6
1376
Diamond-Blackfan Anemia 7
1377
Diamond-Blackfan Anemia 8
1378
Diamond-Blackfan Anemia 9
1379
Diaphanospondylodysostosis
1380
Diaphragmatic Agenesis, Multiple Midline Defects
1381
Diaphragmatic Hernia, Hydrocephalus, Heart Defects
1382
Diaphyseal Aclasis
1383
Diastrophic Dwarfism
1384
Diastrophic Dysplasia
1385
Diastrophic Nanism Syndrome
1386
DIDMOAD Syndrome
1387
Diencephalic Syndrome
1388
DiGeorge Sequence or Velocariofacial Syndrome
1389
DiGeorge Syndrome
1390
Digital Anomalies Intellectual Disability Short Stature Syndrome
1391
Digital Arthropathy-Brachydactyly, Familial
1392
Digitotalar Dysmorphism
1393
Dihydrolipoamide Dehydrogenase Deficiency
1394
Dihydropyrimidinase Deficiency
1395
Dihydroxyacetonephosphate Acyltransferase Deficiency
1396
Dilated Cardiomyopathy
1397
Dilated Cardiomyopathy, Ataxia, Testicular Dysgenesis
1398
Diploid-Tripoid Mosaicism
1399
Dislocated Hips & Radial Heads, Carpal Coalition
1400
Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis and Short Stature
1401
Dislocation of Hip, Congenital, with Hyperextensibility of Gingers and Facial Dysmorphism
1402
Disorder of Hyaluronan Metabolism
1403
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
1404
Disproportionately Short Stature
1405
Distal 18q Deletion Syndrome
1406
Distal 3p Deletion
1407
Distal 5q Duplication Syndrome
1408
Distal Arthrogryposis Type 7
1409
Distal Arthrogryposis Type 9
1410
Distal Arthrogryposis Types 3, 4, and 6
1411
Distal Arthrogryposis Types 3, 4, and 6
1412
Distal Arthrogryposis, Bijlsma-Boles Type
1413
Distal Arthrogryposis, Impaired Proprioception and Touch (DAIPT)
1414
Distal Arthrogryposis, Mental Retardation, Chitayat-Hall Type
1415
Distal Arthrogryposis, Rivera Type
1416
Distal Arthrogryposis, Type 5
1417
Distal Arthrogryposis, Whistling Face, Pierre Robin
1418
Distal Chromosome 22q11.2 Deletion Syndrome
1419
Distal Chromosome 7q11.23 Deletion Syndrome
1420
Distal Monosomy 17q
1421
Distal Monosomy 3p
1422
Distal Monosomy 7q36
1423
Distal Muscular Atrophy, Deafness
1424
Distal Osteosclerosis
1425
Distal Trisomy 10q Syndrome, Duplicated q24.31 – qter
1426
Distal Trisomy 14q
1427
Distal Trisomy 15q
1428
Distal Trisomy 17q
1429
Distal Trisomy 6p
1430
Distal Xp Duplication
1431
Distal Xp Duplication Duplication Xq
1432
Distal Xq28 Microduplication Syndrome
1433
DLK1
1434
DMC Disease
1435
DNMT3A Overgrowth Syndrome
1436
Dobrow Syndrome
1437
Dolichospondylic Dysplasia
1438
Donnai-Barrow Syndrome
1439
DONOHUE SYNDROME
1440
DOORS Syndrome
1441
Down Syndrome
1442
Drayer Syndrome
1443
Du Pan Syndrome
1444
Duane Anomaly-Myopathy-Scoliosis Syndrome
1445
Dubowitz Syndrome
1446
Dubowitz Syndrome, Type 2
1447
Duchenne Muscular Dystrophy
1448
Duodenal Atresia
1449
Duodenitis
1450
Duplication 10q
1451
Duplication 12q
1452
Duplication 1q
1453
Duplication 3p
1454
Duplication of the Pituitary Gland
1455
Duplication Xq
1456
Duplication in Chromosome Band Xp22.2–22.13
1457
Duplications of 20p
1458
Duplications of 2p
1459
Dwarfism
1460
Dwarfism with Short, Bowed, Rigid Limbs and Characteristic Facies
1461
Dwarfism, Levi Type
1462
Dwarfism, Low-Birth-Weight Type with Unresponsiveness to Growth Hormone
1463
Dwarfism, Proportionate with Hip Dislocation
1464
Dwarfism, Tall Vertebral Bodies
1465
Dyggve Melchior Clausen Syndrome
1466
Dyschondrosteosis Nephritis
1467
Dysencephalia Splanchnocystica
1468
Dysequilibrium Syndrome
1469
Dyserythropoiesis, Microcephaly, Intrauterine Growth Retardation
1470
Dyserythropoietic Anemia, Congenital Type 1
1471
Dyserythropoietic Anemia, Congenital, Type Ib
1472
Dysgenesis Corpus Callosum, Microcephaly, Mental Retardation
1473
Dysgenesis Mesodermalis Corneae et Sclerae
1474
Dyskeratosis Congenita Syndrome
1475
Dyskeratosis Congenita, Autosomal Dominant 2
1476
Dyskeratosis Congenita, Autosomal Dominant 3
1477
Dyskeratosis Congenita, X-Linked
1478
Dysmorphic Facies, Hypotonia, Seizures, Precocious Puberty
1479
Dysmorphism Arthrogryposis Skeletal Maturation Advanced
1480
Dysmorphism Cleft Palate Loose Skin
1481
Dysmorphism-Short Stature-Deafness-Pseudohermaphroditism Syndrome
1482
Dysmorphism-Short-Stature-Deafness-Disorder of Sex Development Syndrome
1483
Dysosteosclerosis
1484
Dysplasia Resembling Kniest Dysplasia
1485
Dysplastic Cortical Hyperostosis
1486
Dysseg Mental Dysplasia, Rolland-Desbuquois Type
1487
Dysseg Mental Dysplasia, Silverman-Handmaker Type
1488
Dysspondyloenchondromatosis
1489
Dystelephalangy, Unusual Facies
1490
Dystonia, Deafness, Dysmorphism
1491
Dystonia, Juvenile Onset
1492
Ear Anomalies-Contractures-Dysplasia of Bone with KyphoScoliosis
1493
Early Balding, Patella Luxation, Acromicria and Hypogonadism
1494
Early-Onset Encephalopathy, Mutations in TBCD
1495
EAST Syndrome (Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy )
1496
Ectodermal Dysplasia
1497
Ectodermal Dysplasia 2, Clouston Type
1498
Ectodermal Dysplasia and Neurosensory Deafness
1499
Ectodermal Dysplasia with Natal teeth, Turnpenny Type
1500
Ectodermal Dysplasia, Alfadley-Parkes Type
1501
Ectodermal Dysplasia, Aplasia Cutis Congenita
1502
Ectodermal Dysplasia, Arthrogryposis, Diabetes Mellitus
1503
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary DySkinesia
1504
Ectodermal Dysplasia, Ocular Anomalies, Wallis-Beighton Type
1505
Ectodermal Dysplasia, Olivopontocerebellar Degeneration, Short Stature
1506
Ectodermal Dysplasia, Osteosclerosis
1507
Ectodermal Dysplasia-Short Stature Syndrome
1508
Ectopia Lentis, Craniofacial Dysmorphism
1509
Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome
1510
Ectrodactyly, Deafness
1511
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
1512
Ectrodactyly-Cleft Lip/Palate Syndrome
1513
Edinburgh Malformation Syndrome
1514
EDS VIB (formerly)
1515
EDSSLA
1516
Edward's Syndrome
1517
EEC Syndrome
1518
EEC, Rudiger Syndrome 1
1519
Ehlers- Danlos Syndrome, Progeroid Type, 1
1520
Ehlers-Danlos Syndrome Type 6B (formerly)
1521
Ehlers-Danlos Syndrome Type VIIC
1522
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies
1523
Ehlers-Danlos Syndrome, Progeroid Type, 2
1524
Ehlers-Danlos Syndrome, Type VII
1525
Ehlers-Danlos Syndrome, Type Viib
1526
EIEE2
1527
Elastolysis
1528
Elejalde Syndrome
1529
Ellis-Van Creveld Syndrome
1530
Emery-Nelson Syndrome
1531
Empty Sella Syndrome
1532
Encephalocele
1533
Encephalomyopathy
1534
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency,
Microcephaly, and Retinal Degeneration
1535
Encephalopathy, Retinal Degeneration, Short Stature
1536
ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE
1537
Endocrine, Neuroectodermal Abnormalities, Oerter Type
1538
Endocrine-Cerebroosteo Dysplasia
1539
Endometriosis
1540
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome
1541
Eng-Strom Syndrome
1542
Eosinophilic Gastroenteritis
1543
EPHA4
1544
epidermal Nevus Syndrome, Castori Type
1545
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy
1546
Epidermolysis Bullosa Macular Type
1547
Epidermolysis Bullosa Simples, Dowling-Meara Type
1548
Epidermolysis Bullosa Simplex and Muscular Dystrophy
1549
Epilepsy
1550
Epileptic Encephalopathy
1551
Epileptic Encephalopathy, Early Infantile, 2
1552
Epileptic Encephalopathy, Early Infantile, 29
1553
Epileptic Encephalopathy, SZT2 Mutations
1554
Epimetaphyseal Skeletal Dysplasia
1555
Epiphyseal Chondrodysplasia, Miura Type
1556
Epiphyseal Dysplasia Hearing Loss Dysmorphism
1557
Epiphyseal Dysplasia Multiple with Early-Onset Diabetes Mellitus
1558
Epiphyseal Dysplasia, Microcephaly, and Nystagmus
1559
Epiphyseal Dysplasia, Multiple 1
1560
Epiphyseal Dysplasia, Multiple, 2
1561
Epiphyseal Dysplasia, Multiple, 3
1562
Epiphyseal Dysplasia, Multiple, 3, with Myopia and Conductive Deafness
1563
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia
1564
Epiphyseal Stippling Syndrome
1565
Epiphyseal Stippling, Osteoclastic Hyperplasia
1566
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Lge
1567
Escobar Syndrome
1568
ESR1
1569
ESTROGEN RECEPTOR 1
1570
Estrogen Resistance
1571
Even-Plus Syndrome
1572
Exomphalos, Short Limbs, Macrogonadism
1573
Exomphalos-MacrogLossia-Gigantism Syndrome
1574
Exostoses, Multiple, Type 1
1575
Exostoses, Multiple, Type 2
1576
Exotropia
1577
Extrasystoles Short Stature Hyperpigmentation Microcephaly
1578
Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and
Microcephaly
1579
Extrasystoles, Short Stature, Hyperpigmentation, Mental Retardation
1580
Exudative Retinopathy, Cerebral Calcifications, Duodenal Atresia, Preaxial Polydactyly,
Micropenis, Microcephaly, Short Stature
1581
Fabry Disease
1582
FACES Syndrome
1583
Facial Dysmorphism, Cerebral Vascular Anomalies, Developmental Delay
1584
Facial Dysmorphism, Pigmented Nevi, Osteoporosis, Brachydactyly, Skeletal Anomalies
1585
Facial Dysmorphism, Right Sided Aortic Arch, Mental Retardation
1586
Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome
1587
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome
1588
Facies
1589
Facio-Audio-Symphalangism Syndrome
1590
Facio-Auricular Syndrome, Simosa Type
1591
Facio-Auriculo-Radial Dysplasia
1592
Facioauriculothoracic Malformations
1593
Facio-Auriculo-Thoracic Syndrome, Megarbane Type
1594
Facio-Cardio-Melic Dysplasia
1595
Faciocardiomelic Syndrome
1596
Facio-Cardio-Renal Syndrome
1597
Facio-Cutaneous-Skeletal Syndrome, Borochowitz Type
1598
Faciodigitogenital Syndrome, Autosomal Recessive
1599
Facio-Digito-Genital Syndrome, Kuwait Type
1600
Facio-oculo-Acoustico-Renal Syndrome
1601
Faciopalatoosseous Syndrome
1602
Facioscapulohumeral Dystrophy, Deafness, Coat's Disease
1603
Failure to Thrive
1604
Fallot Complex, Mental Retardation, Growth Retardation
1605
Familial Adenomatous Polyposis
1606
Familial Aniridia, Ptosis, Mental Retardation, Obesity
1607
Familial Brachial Plexus Neuropathy
1608
Familial DNA-Methylation Disorder, Caliebe Type
1609
Familial Dwarfism, Muscle Spasms
1610
Familial Dysautonomia
1611
Familial Dysautonomia, FD
1612
Familial Empty Sella, Rieger's Anomaly
1613
Familial Erythrophagocytic Lymphohistiocytosis
1614
Familial Glucocorticoid Deficiency (FGD)
1615
Familial Gynecomastia, due to Increased Aromatase Activity
1616
Familial Hemophagocytic Lymphohistiocytosis
1617
Familial Histiocytic Reticulosis
1618
Familial Hydiopatic Hyperphosphatasia
1619
Familial Idiopathic Hyperphosphatasia
1620
Familial Intestinal Malrotation, Facial Anomalies
1621
Familial Macrocephaly
1622
Familial Mitral Valve Prolapse
1623
Familial Osteochondritis Dissecans
1624
Familial Osteoectasia or Jevenile Paget's Disease
1625
Familial Patella Aplasia-Hypoplasia and Nail-Patella Syndrome
1626
Familial Rhizomelic Dysplasia
1627
Familial Scaphocephaly Syndrome
1628
Familial Shoulder Girdle Defect, Mental Retardation
1629
Familial Spastic Paraplegia Associated with Large Stature and Chromosomal Abnormalities
1630
Familial Tall Stature
1631
Familial Thyroid Dyshormonogenesis
1632
Familial X-Linked Hypophosphatemic Vitamin D Refractory Rickets
1633
Familial Xp22.33-Xp22.12 Deletion
1634
Fanconi Anemia, Complementation Group A
1635
Fanconi Anemia, Complementation Group C
1636
Fanconi Anemia, Complementation Group D2
1637
Fanconi Anemia, Complementation Group E
1638
Fanconi Anemia, Complem