id stringlengths 6 8 | corpus stringlengths 138 2.42k | ann stringlengths 26 1.35k |
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12592607 | The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contractures of the limbs. We previously mapped a locus for DA type 2B (DA2B), the most common of the DAs, to chromosome 11. We now report that DA2B is caused by mutations in TNNI2 that are predicted to disrupt the carboxy-ter... | 4 25 distal arthrogryposes HP:0005684
74 106 multiple congenital contractures HP:0005188
94 119 contractures of the limbs HP:0003121
478 491 heterogeneous HP:0001425
1149 1180 multiple-congenital-contracture HP:0005188
|
4006277 | Branchio-oto-renal (BOR) syndrome is a developmental complex presenting with various combinations of ear pits, branchial cleft cysts, deafness and renal anomalies, which is inherited as an autosomal dominant trait. This report describes a father and 2 children with BOR syndrome in which gustatory lacrimation (GL) was a... | 101 109 ear pits HP:0004467
111 132 branchial cleft cysts HP:0009796
134 142 deafness HP:0000404
147 162 renal anomalies HP:0000077
189 213 autosomal dominant trait HP:0000006
288 309 gustatory lacrimation HP:0100274
411 446 cranial nerve-end organ innervation HP:0001291
454 471 lacrimal stenosis HP:0007925
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9321755 | DNA mapping studies in two families provide further information on the Angelman syndrome critical region, which has recently been defined by the gene UBE3A. The first family has probable familial Angelman syndrome with a maternally imprinted inheritance pattern. A 5 year old girl with this disorder has a 14 year old br... | 698 716 mental retardation HP:0001249
|
8832722 | A young male infant was noted at birth to have bilateral cleft lip and palate, bilateral microphthalmos and ocular colobomata, and a dysplastic left kidney. His mother had similar ophthalmological findings and milder facial anomalies which included abnormality of the philtrum and bilateral congenital nasolacrimal duct ... | 2 7 young HP:0003593
47 66 bilateral cleft lip HP:0100336
47 77 bilateral cleft lip and palate HP:0002744
57 77 cleft lip and palate HP:0000175
79 103 bilateral microphthalmos HP:0007633
108 125 ocular colobomata HP:0007995
133 155 dysplastic left kidney HP:0004741
180 205 ophthalmological findings HP:0000478
210 233 m... |
1363801 | Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders associated with deletions of proximal 15q (q11-q13) of different parental origin. Yeast artificial chromosome (YAC) clones were isolated for 9 previously mapped DNA probes from this region, and for one newly derived marker,... | 68 86 mental retardation HP:0001249
1231 1242 familial AS HP:0000005
|
10631923 | Townes-Brocks syndrome (TBS) has been recognized as a dominant inherited syndrome. We report 2 cases of TBS. Case 1 was operated on for imperforate anus. Triphalangeal thumb and ear anomalies were remarkable. Deafness was diagnosed when the patient was 6 months old. Anomalies of the semicircular canals and the incus wi... | 54 72 dominant inherited HP:0000006
136 152 imperforate anus HP:0002023
154 173 Triphalangeal thumb HP:0001199
178 191 ear anomalies HP:0000598
209 217 Deafness HP:0000404
267 303 Anomalies of the semicircular canals HP:0011380
267 317 Anomalies of the semicircular canals and the incus HP:0011453
323 345 inculomalleola... |
7977374 | Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large... | 0 9 Club foot HP:0001762
68 89 Distal arthrogryposis HP:0005684
127 147 dominantly inherited HP:0000006
148 157 club foot HP:0001762
586 605 locus heterogeneity HP:0001425
624 646 congenital contracture HP:0002803
665 692 positional foot deformities HP:0005656
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3321989 | We report on two sibs with Angelman "happy puppet" syndrome. Out of 48 families reported in the literature, this is only the fourth family with affected sibs. A review of the literature shows a low but not negligible recurrence risk. Different explanations for this are discussed. | 37 49 happy puppet HP:0100024
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8669439 | The Townes-Brocks syndrome (TBS) is comprised of a triad including characteristic anal, thumb, and ear anomalies. There are many other organ system abnormalities which may be present. However, the literature does not emphasize craniofacial findings except with reference to the typical ear configuration. A three-generat... | 82 112 anal, thumb, and ear anomalies HP:0004378
88 112 thumb, and ear anomalies HP:0001172
99 112 ear anomalies HP:0000598
135 161 organ system abnormalities HP:0000118
227 248 craniofacial findings HP:0000271
278 303 typical ear configuration HP:0000598
353 380 craniofacial manifestations HP:0000271
534 550 imperfora... |
10771486 | Schwannomas in the skin are frequently observed in neurofibromatosis 2 patients. In about one-quarter of the cases, skin tumors are the first clinical symptoms of this disease. Recognizing neurofibromatosis-2-related skin tumors is therefore important for early diagnosis of neurofibromatosis 2, especially in pediatric ... | 0 23 Schwannomas in the skin HP:0009593
51 68 neurofibromatosis HP:0006746
116 127 skin tumors HP:0008069
189 206 neurofibromatosis HP:0006746
217 228 skin tumors HP:0008069
275 292 neurofibromatosis HP:0006746
360 371 skin tumors HP:0008069
376 387 schwannomas HP:0100008
397 410 neurofibromas HP:0001067
420 437 neurof... |
8352281 | Nevoid basal cell carcinoma syndrome (NBCCS; basal cell nevus syndrome or Gorlin syndrome) is a cancer-predisposition syndrome characterized by multiple basal cell carcinomas (BCCs) and diverse developmental defects. The gene for NBCCS has been mapped to 9q23.1-q31 in North American and European families. In addition, ... | 7 27 basal cell carcinoma HP:0002671
45 70 basal cell nevus syndrome HP:0002671
96 102 cancer HP:0002664
153 174 basal cell carcinomas HP:0002671
194 215 developmental defects HP:0001263
405 413 sporadic HP:0003745
465 470 tumor HP:0002664
642 655 heterogeneity HP:0001425
831 839 sporadic HP:0003745
901 913 skin lesion... |
2354548 | A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome. Both syndromes may represent variant expressions of the same autosomal dominant gene. | 39 57 autosomal dominant HP:0000006
58 73 branchial cleft HP:0009794
223 241 autosomal dominant HP:0000006
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1931625 | We have investigated the incidence of Gorlin syndrome (GS) in patients with the childhood brain tumour, medulloblastoma. One hundred and seventy-three consecutive cases of medulloblastoma in the North-West Regional Health Authority between 1954 and 1989 (Manchester Regional Health Board before 1974) were studied. After... | 80 89 childhood HP:0011463
90 102 brain tumour HP:0100006
104 119 medulloblastoma HP:0002885
172 187 medulloblastoma HP:0002885
472 484 brain tumour HP:0100006
522 537 medulloblastoma HP:0002885
673 688 medulloblastoma HP:0002885
850 868 early age of onset HP:0003593
915 930 medulloblastoma HP:0002885
1055 1077 basal c... |
2729353 | We report on a 4-year-old girl with Angelman syndrome who has an apparent de-novo del(15) (q11q13) originating from a maternally derived chromosome. Her mother had severe brachycephaly, sensorineural hearing loss, speech impediment, and mild ataxia. CT brain scans showed an enlarged foramen magnum in the mother and dau... | 171 184 brachycephaly HP:0000248
186 212 sensorineural hearing loss HP:0000407
214 231 speech impediment HP:0002167
237 248 mild ataxia HP:0001251
275 298 enlarged foramen magnum HP:0002700
373 394 brainstem abnormality HP:0002363
472 494 dominantly transmitted HP:0000006
500 519 variable expression HP:0003828
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1110452 | Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndr... | 65 73 sporadic HP:0003745
108 126 autosomal dominant HP:0000006
217 231 sporadic cases HP:0003745
260 292 dominantly inheritable disorders HP:0000006
298 323 basal cell nevus syndrome HP:0002671
612 620 sporadic HP:0003745
|
2466440 | Thirty six children with typical features of Angelman's syndrome, including global developmental delay, ataxia, episodes of paroxysmal laughter, seizures, and microcephaly were studied. The series included three sibships of three affected sisters, two affected brothers, and two affected sisters, respectively. The facia... | 76 102 global developmental delay HP:0001263
104 110 ataxia HP:0001251
112 143 episodes of paroxysmal laughter HP:0000749
145 153 seizures HP:0001250
159 171 microcephaly HP:0000252
315 332 facial appearance HP:0001999
355 368 prominent jaw HP:0002051
372 382 wide mouth HP:0000154
390 402 pointed chin HP:0000307
404 42... |
8160736 | We present 3 individuals, a mother, her son, and an unrelated child, with a number of manifestations reported in the branchio-oculo-facial syndrome (BOFS). The former 2 individuals lacked the ocular and branchial abnormalities normally encountered in this syndrome. However, unilateral renal agenesis was present in the ... | 275 300 unilateral renal agenesis HP:0000122
419 452 bilateral supra-auricular sinuses HP:0008606
686 719 development of the optic vesicles HP:0000478
721 737 branchial arches HP:0009794
949 982 contiguous gene deletion syndrome HP:0001466
|
292745 | This paper is based on our experience with the Gorlin-Goltz syndrome and on data from 14 patients of the Nordwestdeutsche Kieferklinik in whom this disorder was detected, treated and followed up. A clinical concept has been produced, with a diagnostic check list including a genetic and a dermatological routine work up ... | 397 418 basal cell carcinomas HP:0002671
436 447 jaw lesions HP:0000209
559 571 skin tumours HP:0008069
584 607 odontogenic keratocysts HP:0010603
658 668 bifid ribs HP:0000892
679 712 calcification of the falx cerebri HP:0005462
731 753 skeletal abnormalities HP:0000924
|
3409926 | An EEG study has been carried out on 19 children (including siblings in 3 families) with clinical features of Angelman syndrome. The age at time of the first EEG ranged from 11 months to 11 years with the majority under 5 years. Six children had no history of seizures at the time of the first EEG. One or more of the fo... | 260 268 seizures HP:0001250
328 345 EEG abnormalities HP:0002353
376 412 Persistent rhythmic 4-6/s activities HP:0010846
463 473 drowsiness HP:0002329
881 890 young age HP:0003593
1174 1183 early age HP:0003593
|
15994874 | Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown. We evaluated genotype-phenotype correlations, with particular focus on the location of splice site muta... | 0 17 Neurofibromatosis HP:0006746
94 105 variability HP:0003812
193 204 variability HP:0003812
540 564 intracranial meningiomas HP:0100009
1082 1110 Schwann cell derived tumours HP:0100008
|
10051003 | Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal... | 35 62 autosomal dominant disorder HP:0000006
95 114 variable expression HP:0003828
139 161 external ear anomalies HP:0000356
163 175 hearing loss HP:0000365
177 197 preaxial polydactyly HP:0001177
202 222 triphalangeal thumbs HP:0001199
224 240 imperforate anus HP:0002023
246 265 renal malformations HP:0000792
344 362 ... |
11455389 | Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most genetic and biologica... | 0 22 Brachydactyly type A-1 HP:0009371
24 29 BDA-1 HP:0009371
63 108 shortening or missing of the middle phalanges HP:0005819
77 108 missing of the middle phalanges HP:0009843
237 267 autosomal-dominant inheritance HP:0000006
|
2012134 | The diagnosis of Angelman syndrome (AS) has seldom been made in infants because the previously described characteristic manifestations usually are not apparent until after age 2 years. We describe 4 AS patients, one of whom has oculocutaneous albinism, who were less than 2 years old when first evaluated. All 4 have del... | 228 251 oculocutaneous albinism HP:0001107
549 594 severe to profound global developmental delay HP:0007106
599 627 postnatal-onset microcephaly HP:0005484
638 646 seizures HP:0001250
648 657 hypotonia HP:0001252
659 672 hyperreflexia HP:0001347
678 690 hyperkinesis HP:0002487
701 714 hypopigmented HP:0001010
756 773 e... |
8786067 | Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients (approximately 65%) have a maternal deficiency within chromosomal region 15q11-q13, caused by maternal deletion or ... | 43 68 severe mental retardation HP:0002187
70 83 absent speech HP:0001344
85 106 puppet-like movements HP:0100022
108 130 inappropriate laughter HP:0000748
132 140 epilepsy HP:0001250
146 175 abnormal electroencephalogram HP:0002353
|
1496982 | Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome characterized by the development of vestibular schwannomas and other tumors of the nervous system, including cranial and spinal meningiomas, schwannomas, and ependymomas. The presence of bilateral vestibular schwannomas is sufficient for the diagnosis. Sk... | 0 17 Neurofibromatosis HP:0006746
37 55 autosomal dominant HP:0000006
101 123 vestibular schwannomas HP:0009588
128 140 other tumors HP:0003008
134 162 tumors of the nervous system HP:0004375
174 204 cranial and spinal meningiomas HP:0100009
186 204 spinal meningiomas HP:0100010
206 217 schwannomas HP:0100008
223 234 e... |
7485365 | To evaluate the ocular abnormalities in patients with clinically diagnosed neurofibromatosis 2 and asymptomatic gene carriers.
Probands were ascertained through a surgical otolaryngology practice. In a cross-sectional study, we examined 49 patients with neurofibromatosis 2, 30 offspring of patients, and, as a comparis... | 16 36 ocular abnormalities HP:0000284
75 92 neurofibromatosis HP:0006746
255 272 neurofibromatosis HP:0006746
371 379 sporadic HP:0003745
380 397 neurofibromatosis HP:0006746
663 683 ocular abnormalities HP:0000284
689 757 posterior subcapsular or capsular, cortical, or mixed lens opacities HP:0007787
714 757 capsular,... |
11425952 | The authors report a patient with neurofibromatosis type 2 (NF2) presenting with an axonal mononeuropathy multiplex. Sural nerve biopsy showed small scattered groups of Schwann cells transformed into irregular branching cells with abnormal cell-cell contacts. The authors hypothesize that defective Schwann cell function... | 34 51 neurofibromatosis HP:0006746
84 115 axonal mononeuropathy multiplex HP:0009831
169 194 Schwann cells transformed HP:0100008
289 320 defective Schwann cell function HP:0100008
452 473 degeneration of axons HP:0000764
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7417945 | Four patients representing four generations of one family suffered from the multiple nevoid basal cell carcinoma syndrome. These cases are described and the importance of examination and careful supervision of the progeny of such patients is discussed. A unique finding in this series was a large congenital lung cyst oc... | 76 91 multiple nevoid HP:0001054
92 112 basal cell carcinoma HP:0002671
297 317 congenital lung cyst HP:0006540
|
6964893 | Several pedigrees with 19 new cases of the earpits-deafness syndrome (McK +12510) [28] are presented. Mention is made of clinical findings obtained in audiometric and vestibular studies, studies of renal function and configuration and polytomographic studies of the labyrinth, and results of exploratory tympanotomies ar... | 43 50 earpits HP:0004467
51 59 deafness HP:0000404
435 442 earpits HP:0004467
443 451 deafness HP:0000404
467 494 autosomal dominant disorder HP:0000006
534 581 sensorineural, conductive or mixed hearing loss HP:0000407
549 581 conductive or mixed hearing loss HP:0000405
563 581 mixed hearing loss HP:0000410
583 600 pr... |
3674117 | Deletions, duplications, and rearrangements of the long arm of chromosome 15 are frequently associated with the clinical diagnosis of the Prader-Willi syndrome. However, a number of other clinical entities have also been associated with similar, if not identical, cytogenetic defects, arguing for clinical heterogeneity ... | 297 319 clinical heterogeneity HP:0003812
741 761 hypotonia of infancy HP:0001319
763 770 obesity HP:0001513
776 795 developmental delay HP:0001263
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3098672 | Cell cultures grown from peripheral neurofibromas of three patients suffering from sporadic peripheral neurofibromatosis (NF) were analysed cytogenetically at early in vitro passages. The NF-cultures exhibited a 6.7-fold higher frequency of aneuploid mitoses, including pseudodiploids, than the control cultures derived ... | 36 49 neurofibromas HP:0001067
83 91 sporadic HP:0003745
103 120 neurofibromatosis HP:0006746
604 615 meningiomas HP:0002858
620 633 neurofibromas HP:0001067
|
1583664 | A four generation autosomal dominant pedigree of brachydactyly type C is presented with its radiological features. The hands and feet were similarly affected. All the subjects showing these changes had shortening of the big toes and, in addition, had cupped ears. | 18 36 autosomal dominant HP:0000006
49 69 brachydactyly type C HP:0009373
202 228 shortening of the big toes HP:0010109
251 262 cupped ears HP:0000378
|
10066029 | Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. The syndrome is characterised by numerous basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, palmar and/or plantar pits, skeletal abnormal... | 7 27 basal cell carcinoma HP:0002671
89 113 autosomal dominant trait HP:0000006
143 164 variable expressivity HP:0003828
208 229 basal cell carcinomas HP:0002671
238 261 odontogenic keratocysts HP:0010603
250 273 keratocysts of the jaws HP:0010603
275 301 palmar and/or plantar pits HP:0010612
289 301 plantar pits HP:00... |
7802001 | We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without del... | 182 196 familial cases HP:0000005
260 274 sporadic cases HP:0003745
294 308 sporadic cases HP:0003745
336 350 sporadic cases HP:0003745
678 686 sporadic HP:0003745
791 799 sporadic HP:0003745
1333 1351 neurological signs HP:0000707
1356 1378 facial characteristics HP:0001999
1423 1447 hypopigmentation of skin HP:000101... |
9486718 | Nevoid basal cell carcinoma syndrome (NBCCS) is rare in black persons. We describe an 11-year-old black boy with NBCCS who presented with exotropia and a painful, expanding, cystic mass in the left posterior alveolar ridge. Further examination revealed odontogenic keratocysts with palmar and plantar pitting. Less than ... | 7 27 basal cell carcinoma HP:0002671
138 147 exotropia HP:0000577
174 222 cystic mass in the left posterior alveolar ridge HP:0006477
253 276 odontogenic keratocysts HP:0010603
282 308 palmar and plantar pitting HP:0010612
455 464 exotropia HP:0000577
518 540 odontogenic keratocyst HP:0010603
|
8042672 | The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African-American NBCC cases from 2 families and a review of the literature of NBCC in African-Americans. The 2 new families, as well as those previously report... | 11 31 basal cell carcinoma HP:0002671
54 72 autosomal dominant HP:0000006
99 120 variable expressivity HP:0003828
358 379 basal cell carcinomas HP:0002671
489 498 jaw cysts HP:0010603
500 526 palmar and/or plantar pits HP:0010612
514 526 plantar pits HP:0010612
532 565 calcification of the falx cerebri HP:0005462
624 6... |
7200726 | A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are reported. No other members of the family are similarly affected. No hormonal or systemic cause of growth retardation was identified. Chromosomal studies with... | 22 49 bilateral branchial sinuses HP:0009794
51 96 intrauterine and postnatal growth retardation HP:0001511
68 96 postnatal growth retardation HP:0008897
98 123 unusual facial appearance HP:0002004
129 144 premature aging HP:0002216
261 279 growth retardation HP:0001510
384 398 dominant trait HP:0000006
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7319144 | Nine children with the "happy puppet" syndrome are presented here and 19 previously reported cases are reviewed. A characteristic psychological profile is suggested by the children's "unfocused" activities and inconsistent responsiveness to their surroundings. Behavioral characteristics are atypical for mental age and ... | 24 36 happy puppet HP:0100024
183 205 "unfocused" activities HP:0000708
261 287 Behavioral characteristics HP:0000708
355 362 seizure HP:0001250
396 417 non-adaptive behavior HP:0000708
550 559 early age HP:0003593
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9096761 | Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcif... | 7 27 basal cell carcinoma HP:0002671
65 92 autosomal dominant disorder HP:0000006
218 239 basal cell carcinomas HP:0002671
241 263 keratocysts of the jaw HP:0010603
265 284 palmar/plantar pits HP:0010610
272 284 plantar pits HP:0010612
286 309 spine and rib anomalies HP:0000925
296 309 rib anomalies HP:0000772
314 347 ... |
17431915 | We report on wide phenotypic variations within a family with SALL1 mutations; the elder sister presented with a Townes-Brocks syndrome phenotype including external ear anomalies, preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, includ... | 13 55 wide phenotypic variations within a family HP:0003822
155 177 external ear anomalies HP:0000356
179 199 preaxial polydactyly HP:0001177
205 227 anteriorly placed anus HP:0001545
324 342 atretic ear canals HP:0000413
344 365 mandibular hypoplasia HP:0000347
377 397 preaxial polydactyly HP:0001177
412 429 epibulbar... |
1484939 | The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied. The mean age at onset was 21.57 years (n = 110) and no patients presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial me... | 89 106 neurofibromatosis HP:0006746
267 289 vestibular schwannomas HP:0009588
291 307 acoustic neuroma HP:0009588
310 329 cranial meningiomas HP:0100009
334 348 spinal tumours HP:0010302
427 435 deafness HP:0000404
485 493 Deafness HP:0000404
513 521 tinnitus HP:0000360
551 566 muscle weakness HP:0001324
551 577 muscle... |
998578 | A woman with the autosomal dominant syndrome of preauricular pits, cervical fistulae, and partial deafness gave birth to two children with preauricular pits and severe renal dysgenesis. The facies had some features of the Potter facies of renal agenesis. One child died soon after birth because of pneumothorax and immat... | 17 35 autosomal dominant HP:0000006
48 65 preauricular pits HP:0004467
67 84 cervical fistulae HP:0009795
90 106 partial deafness HP:0000365
139 156 preauricular pits HP:0004467
161 184 severe renal dysgenesis HP:0008680
222 235 Potter facies HP:0002009
239 253 renal agenesis HP:0000104
265 286 died soon after birth HP... |
3740720 | Branchio-oto-renal dysplasia, often called the BOR syndrome, in its full expression consists of hearing loss of conductive, sensorineural, or mixed type; preauricular pits; auricular deformities; lateral cervical sinuses, cysts, or fistulas; and renal malformations. The condition is inherited in an autosomal dominant m... | 13 28 renal dysplasia HP:0000110
96 152 hearing loss of conductive, sensorineural, or mixed type HP:0000410
96 137 hearing loss of conductive, sensorineural HP:0000407
154 171 preauricular pits HP:0004467
200 219 lateral cervical sinuses HP:0000077
232 240 fistulas HP:0009794
246 265 renal malformations HP:0000792
300 ... |
8494033 | Chromosome region 15q is thought to contain one or more genes that are important for melanin pigment synthesis in the hair, skin, and eyes. Hypopigmentation has been identified in the Prader-Willi (PWS) and Angelman (AS) syndromes. We have examined 6 individuals with AS to further characterize the pigment pattern in th... | 85 138 melanin pigment synthesis in the hair, skin, and eyes HP:0007513
140 156 Hypopigmentation HP:0007513
416 424 albinism HP:0001022
531 540 nystagmus HP:0000639
547 557 strabismus HP:0000486
568 591 reduced retinal pigment HP:0007746
1043 1059 Hypopigmentation HP:0007513
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3585943 | We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases. This report, together with a review of published reports and contact with previous authors, has revealed a total of 41 sibs of probands, although only nine of these are known to have been l... | 115 129 isolated cases HP:0001420
475 506 autosomal recessive inheritance HP:0000007
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6823972 | No difference in survival was observed between cultured cells from basal cell naevus syndrome (BCNS) patients and normal controls following exposure of fibroblasts to ionizing radiation. Potential lethal damage repair in BCNS cells, measured by holding experiments, was also no different from normal. G0-irradiated lymph... | 67 84 basal cell naevus HP:0002671
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9557895 | The causal heterogeneity of Angelman syndrome (AS) makes providing information regarding recurrence risk both important and challenging, and may have a dramatic impact on reproductive decision-making for the nuclear and extended family. Most cases of AS result from typical large de novo deletions of 15q11-q13, and are ... | 11 24 heterogeneity HP:0001425
280 287 de novo HP:0003745
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11169564 | Hereditary isolated brachydactyly type C (OMIM 113100) mostly follows an autosomal dominant pattern of inheritance with a marked variability in expression. This phenotype has been mapped to two different loci on chromosomes 12q24 and 20q11.2. The latter locus contains the cartilage-derived morphogenetic protein (CDMP)1... | 20 40 brachydactyly type C HP:0009373
73 91 autosomal dominant HP:0000006
122 154 marked variability in expression HP:0003828
384 427 malformations restricted to the upper limbs HP:0002817
444 464 brachydactyly type C HP:0009373
582 601 locus heterogeneity HP:0001425
746 766 brachydactyly type C HP:0009373
794 843 cons... |
1357962 | Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). We describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental di... | 591 609 hypotonic at birth HP:0008935
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11484202 | Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss. Many cases are sporadic. Within and between families, the phenotype displays striking variability. Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger t... | 49 65 imperforate anus HP:0002023
67 81 hand anomalies HP:0001155
87 104 ear malformations HP:0000598
110 136 sensorineural hearing loss HP:0000407
153 161 sporadic HP:0003745
163 235 Within and between families, the phenotype displays striking variability HP:0003822
224 235 variability HP:0003812
455 472 cardiac anoma... |
8988171 | Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is one of the best examples of human disease in which genetic imprinting plays a role. In about 70% of cases, AS is caused by de novo maternal deletions at 15q11-q13 (ref. 2). Approximately 2% of AS ... | 41 59 mental retardation HP:0001249
61 69 seizures HP:0001250
71 100 frequent smiling and laughter HP:0000749
92 100 laughter HP:0000748
106 119 abnormal gait HP:0001288
247 254 de novo HP:0003745
1120 1127 de novo HP:0003745
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1362220 | Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. Ap... | 348 362 sporadic cases HP:0003745
397 408 familial AS HP:0000005
497 527 autosomal dominant inheritance HP:0000006
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14699618 | The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11-year-old girl with clinical features consistent with BCNS including bridging of sella turcica, b... | 42 67 basal cell nevus syndrome HP:0002671
292 317 bridging of sella turcica HP:0005449
319 337 biparietal bossing HP:0000242
339 375 downward slanting palpebral fissures HP:0000494
377 397 mandible prognathism HP:0000303
399 415 pectus excavatum HP:0000767
417 436 thumb abnormalities HP:0001172
438 457 occult spina bi... |
7905534 | Angelman syndrome (AS) results from a lack of maternal contribution from chromosome 15q11-13, arising from de novo deletion in most cases or rarely from uniparental disomy. These families are associated with a low recurrence risk. However, in a minority of families, more than one child is affected. No deletion has been... | 107 114 de novo HP:0003745
362 381 mode of inheritance HP:0000005
403 421 autosomal dominant HP:0000006
446 460 Sporadic cases HP:0003745
720 734 sporadic cases HP:0003745
902 916 sporadic cases HP:0003745
929 943 familial cases HP:0000005
1482 1496 familial cases HP:0000005
|
2309778 | Six patients, including two sibs, with Angelman syndrome (AS; three females and three males, aged 11 to 18 years) were studied cytogenetically. Molecular analysis was also performed. Using high-resolution banding technique, we detected a microdeletion in the proximal region of chromosome 15q in four cases. The deleted ... | 463 477 sporadic cases HP:0003745
627 641 sporadic cases HP:0003745
1161 1174 heterogeneity HP:0001425
|
2282716 | Clinical and genetic data of 10 patients with neurofibromatosis 2 (NF-2) are presented. Interestingly, no family history of neurofibromatosis was detectable in any of them, which indicates that these are sporadic cases of NF-2, most likely due to a new mutational event. According to our own results and the data in the ... | 46 63 neurofibromatosis HP:0006746
124 141 neurofibromatosis HP:0006746
204 218 sporadic cases HP:0003745
332 346 sporadic cases HP:0003745
416 427 meningiomas HP:0002858
432 445 spinal tumors HP:0010302
465 508 bilateral occurrence of acoustic neurinomas HP:0009589
514 536 clinical heterogeneity HP:0003812
|
7446562 | We report on a 32-year-old Italian man, his 5-year-old daughter, and his 3 1/2-year-old son, all of whom had congenital joint contractures. Each has severe ulnar deviation of fingers and soft-tissue contractures of both hands; and each had bilateral clubfeet at birth. The father is short in stature, as are the children... | 109 138 congenital joint contractures HP:0002803
156 182 ulnar deviation of fingers HP:0009465
199 225 contractures of both hands HP:0006096
240 258 bilateral clubfeet HP:0001776
283 299 short in stature HP:0001509
336 363 delayed carpal ossification HP:0001216
401 431 autosomal-dominant inheritance HP:0000006
531 554 ... |
1479599 | The major defining features, age at onset of symptoms, and survival in 150 patients with type 2 neurofibromatosis (NF2) have been studied. The mean age at onset was 21.57 years (n = 110) and no cases presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuro... | 96 113 neurofibromatosis HP:0006746
282 304 vestibular schwannomas HP:0009588
306 322 acoustic neuroma HP:0009588
325 344 cranial meningiomas HP:0100009
350 364 spinal tumours HP:0010302
623 635 lens opacity HP:0000518
639 647 cataract HP:0000518
692 717 interfamilial differences HP:0003822
742 748 tumour HP:0002664
76... |
15734008 | To report new ocular manifestations of branchio-oculo-facial (BOF) syndrome.
Case report.
A 10-year-old girl with known BOF syndrome was referred because of a fundus lesion in her left eye.
She had undergone excision of a left orbital dermoid cyst at age 18 months and a branchial cleft fistula from the right side of... | 14 35 ocular manifestations HP:0000478
161 174 fundus lesion HP:0001144
225 250 left orbital dermoid cyst HP:0001144
274 297 branchial cleft fistula HP:0009795
472 500 iris pigment epithelial cyst HP:0000525
584 607 hamartoma of the retina HP:0009594
612 637 retina pigment epithelium HP:0008051
680 735 craniofacial, au... |
8318482 | This prospective study of 96 individuals from 29 families with neurofibromatosis 2, 49 of whom were affected, confirms in an extended series the previously reported association between posterior subcapsular/capsular cataract and neurofibromatosis 2. Posterior subcapsular/capsular cataracts were found in 36 (80%) of the... | 63 80 neurofibromatosis HP:0006746
185 224 posterior subcapsular/capsular cataract HP:0007787
195 224 subcapsular/capsular cataract HP:0000523
207 224 capsular cataract HP:0100017
229 246 neurofibromatosis HP:0006746
250 290 Posterior subcapsular/capsular cataracts HP:0007787
260 290 subcapsular/capsular cataracts HP:0... |
8755919 | The gene predisposing to neurofibromatosis type 2 (NF2) on human chromosome 22 has revealed a wide variety of different mutations in NF2 individuals. These patients display a marked variability in clinical presentation, ranging from very severe disease with numerous tumors at a young age to a relatively mild condition ... | 25 42 neurofibromatosis HP:0006746
182 193 variability HP:0003812
258 273 numerous tumors HP:0003008
279 288 young age HP:0003593
305 338 mild condition much later in life HP:0003664
379 392 heterogeneity HP:0001425
1072 1080 sporadic HP:0003745
1081 1087 tumors HP:0002664
|
7246489 | Five new cases are presented of a syndrome characterized mainly by severe mental retardation, epilepsy, puppet-like ataxic movements, microbrachycephaly, prognathism, tongue protrusion, and inappropriate paroxysms of laughter. The cases are analyzed with reference to personal and family histories, clinical findings, an... | 67 92 severe mental retardation HP:0002187
94 102 epilepsy HP:0001250
104 132 puppet-like ataxic movements HP:0001251
134 152 microbrachycephaly HP:0002258
154 165 prognathism HP:0000303
167 184 tongue protrusion HP:0010808
190 225 inappropriate paroxysms of laughter HP:0000748
|
8681379 | The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms and soles, jaw keratocysts, a variety of other tumors, and developmental abnormalities. NBCCS maps to chromosome 9q22.3. Familial and sporadic BCCs display loss of... | 11 31 basal cell carcinoma HP:0002671
55 82 autosomal dominant disorder HP:0000006
109 130 basal cell carcinomas HP:0002671
139 156 pits of the palms HP:0010610
139 166 pits of the palms and soles HP:0010612
168 183 jaw keratocysts HP:0010603
198 210 other tumors HP:0003008
216 243 developmental abnormalities HP:000126... |
10440824 | We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. T... | 59 72 cholesteatoma HP:0009797
77 106 anomalies of the facial nerve HP:0010827
138 183 branchial arch, otic, and renal malformations HP:0009794
138 147 branchial HP:0009794
154 183 otic, and renal malformations HP:0000598
164 183 renal malformations HP:0000792
275 317 unilateral duplication of the facial nerve HP:00108... |
12219090 | Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection, but the function of IRF6 is unknow... | 490 513 autosomal dominant form HP:0000006
517 526 cleft lip HP:0100333
517 537 cleft lip and palate HP:0000175
543 551 lip pits HP:0000196
594 613 cleft lip or palate HP:0000175
594 603 cleft lip HP:0100333
615 634 Popliteal pterygium HP:0009756
731 757 skin and genital anomalies HP:0000951
740 757 genital anomalies H... |
9931336 | Mutations of the human Patched gene ( PTCH ) have been identified in individuals with the nevoid basal cell carcinoma syndrome (NBCCS) as well as in sporadic basal cell carcinomas and medulloblastomas. We have isolated a homologue of this tumour suppressor gene and localized it to the short arm of chromosome 1 (1p32.1-... | 97 117 basal cell carcinoma HP:0002671
149 157 sporadic HP:0003745
158 179 basal cell carcinomas HP:0002671
184 200 medulloblastomas HP:0002885
705 726 basal cell carcinomas HP:0002671
734 750 medulloblastomas HP:0002885
809 824 medulloblastoma HP:0002885
866 886 basal cell carcinoma HP:0002671
953 960 tumours HP:00026... |
15470370 | Angelman syndrome (AS) can result from either a 15q11-q13 deletion (del), paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. Here, we describe the phenotypic and behavioral variability detected in 49 patients with different classes of deletions and nine patients with UPD. Diagnosis was made by methylati... | 189 200 variability HP:0003812
586 609 absence of vocalization HP:0001344
912 929 speech impairment HP:0002167
983 1006 absence of vocalization HP:0001344
1192 1212 swallowing disorders HP:0002015
1241 1250 hypotonia HP:0001252
1351 1359 seizures HP:0001250
1382 1394 microcephaly HP:0000252
1401 1407 ataxia HP:0001251
|
16401744 | Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, speech disorder, stereotyped jerky movements, and a peculiar behavioral profile, with a happy disposition and outbursts of laughter. Most patients with AS present with epilepsy and suggestive electroencephalographic patterns, ... | 67 92 severe mental retardation HP:0002187
94 109 speech disorder HP:0007170
111 138 stereotyped jerky movements HP:0007087
155 173 behavioral profile HP:0000715
182 199 happy disposition HP:0100024
204 225 outbursts of laughter HP:0000749
262 270 epilepsy HP:0001250
286 318 electroencephalographic patterns HP:0002353
... |
1951448 | We report on 2 children with Townes-Brocks syndrome (TBS) and mental retardation. One child had mild hearing loss, but the other only had hearing loss at 8000 Hz. These cases suggest that there may be an increased incidence of mental retardation in individuals with TBS. | 62 80 mental retardation HP:0001249
101 113 hearing loss HP:0000365
138 150 hearing loss HP:0000365
227 245 mental retardation HP:0001249
|
10417280 | Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structu... | 68 93 neurobehavioral disorders HP:0000708
223 230 de novo HP:0003745
|
3105060 | Bilateral acoustic neurofibromatosis (BANF) is a genetic defect associated with multiple tumors of neural crest origin. Specific loss of alleles from chromosome 22 was detected with polymorphic DNA markers in two acoustic neuromas, two neurofibromas, and one meningioma from BANF patients. This indicates a common pathog... | 0 36 Bilateral acoustic neurofibromatosis HP:0009589
38 42 BANF HP:0009589
80 111 multiple tumors of neural crest HP:0004375
213 230 acoustic neuromas HP:0009588
236 249 neurofibromas HP:0001067
259 269 meningioma HP:0002858
351 356 tumor HP:0002664
372 385 neurofibromas HP:0001067
539 545 tumors HP:0002664
557 569 neu... |
18423521 | Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appearance (malformed pinn... | 48 66 autosomal-dominant HP:0000006
67 79 cleft palate HP:0000175
80 101 craniofacial disorder HP:0002260
107 128 variable expressivity HP:0003828
157 176 cutaneous anomalies HP:0000951
188 225 infra- and/or supra-auricular defects HP:0000377
254 270 ocular anomalies HP:0000284
287 304 facial appearance HP:0001999
306 ... |
8145850 | The mutation brachypodism (bp) alters the length and number of bones in the limbs of mice but spares the axial skeleton. It illustrates the importance of specific genes in controlling the morphogenesis of individual skeletal elements in the tetrapod limb. We now report the isolation of three new members of the transfor... | 750 759 short ear HP:0400005
910 919 short ear HP:0400005
|
7747758 | To determine the spectrum of manifestations in neurofibromatosis 2 (NF2) and to assess possible heterogeneity, we evaluated 63 affected individuals from 32 families. Work-up included skin and neurologic examinations, audiometry, a complete ophthalmology examination with slit-lamp biomicroscopy of the lens and fundus, a... | 47 64 neurofibromatosis HP:0006746
96 109 heterogeneity HP:0001425
471 493 vestibular schwannomas HP:0009588
509 519 CNS tumors HP:0004375
529 540 skin tumors HP:0008069
554 575 ocular manifestations HP:0000478
586 595 cataracts HP:0000518
600 618 retinal hamartomas HP:0009594
692 714 Vestibular schwannomas HP:0009588
... |
10196695 | Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a puta... | 28 55 neurodevelopmental disorder HP:0000707
839 863 contiguous gene syndrome HP:0001466
|
7057963 | Fifteen patients with bilateral acoustic neuromas are presented. Ten patients became symptomatic before age 21, and 9 of these patients developed additional central nervous system tumors. Cutaneous manifestations of neurofibromatosis and a positive family history of this disorder were absent in many of the patients. Mo... | 22 49 bilateral acoustic neuromas HP:0009589
157 186 central nervous system tumors HP:0100006
188 212 Cutaneous manifestations HP:0000951
216 233 neurofibromatosis HP:0006746
471 477 tumors HP:0002664
|
8923935 | Since the group of disorders known as the distal arthrogryposes (DAs) were defined, additional disorders characterized by multiple congenital contractures of the distal limbs were described, and the distribution of phenotypic findings in the DAs has been expanded. The breadth of disorders labeled as DAs has diminished ... | 42 63 distal arthrogryposes HP:0005684
122 154 multiple congenital contractures HP:0005188
142 174 contractures of the distal limbs HP:0003121
|
1496981 | The neurofibromatosis type 2 (NF2) gene has been hypothesized to be a recessive tumor suppressor, with mutations at the same locus on chromosome 22 that lead to NF2 also leading to sporadic tumors of the types seen in NF2. Flanking markers for this gene have previously been defined as D22S1 centromeric and D22S28 telom... | 4 21 neurofibromatosis HP:0006746
80 85 tumor HP:0002664
181 189 sporadic HP:0003745
190 196 tumors HP:0002664
424 430 tumors HP:0002664
509 514 tumor HP:0002664
581 589 sporadic HP:0003745
609 626 acoustic neuromas HP:0009588
628 639 meningiomas HP:0002858
641 652 schwannomas HP:0100008
658 669 ependymomas HP:0002888
... |
6973119 | The results of a systematic study of the otological aspects in 13 cases of earpit-deafness syndrome are reported. The audiometric, radiological and vestibular findings as well as the results of exploratory tympanotomies with and without stapedectomies are discussed together with the results reported in the literature. ... | 75 81 earpit HP:0004467
82 90 deafness HP:0000404
408 426 mixed hearing loss HP:0000410
452 464 hearing loss HP:0000365
480 490 conduction HP:0000405
495 518 ankylosis of the stapes HP:0000381
524 560 disconnection of the ossicular chain HP:0004452
|
19533801 | Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma. Between 50% and 85% of patients with GS harbor germ line mutations in the only susceptibility gene... | 40 58 autosomal dominant HP:0000006
180 200 basal cell carcinoma HP:0002671
205 220 medulloblastoma HP:0002885
491 506 medulloblastoma HP:0002885
719 734 medulloblastoma HP:0002885
|
9546330 | We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogenet... | 12 20 epilepsy HP:0001250
521 540 characteristic EEGs HP:0002353
566 574 dominant HP:0000006
701 721 intractable epilepsy HP:0001275
744 761 atypical absences HP:0007270
766 776 myoclonias HP:0001336
802 837 generalized extensor tonic seizures HP:0002069
841 854 flexor spasms HP:0004305
856 872 Epileptic spasms HP:0011... |
11343340 | The diagnosis of Angelman syndrome (AS) can be confirmed by genetic laboratory in about 80% of cases. In 20%, the diagnosis remains clinical, but often there is uncertainty about the correctness of the clinical diagnosis and alternative diagnoses may be investigated. In evaluating individuals for AS in our center since... | 749 760 retardation HP:0001249
828 842 cerebral palsy HP:0100021
851 865 encephalopathy HP:0001298
892 916 autism spectrum disorder HP:0000729
918 947 pervasive developmental delay HP:0000729
|
17307835 | Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated.
The expanded database of 460 families with NF2 and 704 affected individuals was analysed for ... | 0 17 Neurofibromatosis HP:0006746
94 103 mosaicism HP:0001442
320 329 mosaicism HP:0001442
405 414 mosaicism HP:0001442
431 439 sporadic HP:0003745
459 490 bilateral vestibular schwannoma HP:0009589
839 848 mosaicism HP:0001442
|
11837604 | Intrafamilial clinical variability in type C brachydactyly: In this report we describe a 4-generation family in which three members present variable clinical and radiological manifestations of brachydactyly type C. The observation of 'skipped generations' in the present family and in a few other families reported previ... | 0 34 Intrafamilial clinical variability HP:0003822
38 58 type C brachydactyly HP:0009373
140 148 variable HP:0003813
193 213 brachydactyly type C HP:0009373
345 358 brachydactyly HP:0001156
380 398 autosomal dominant HP:0000006
|
3688021 | Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size ... | 96 121 severe mental retardation HP:0002187
123 131 seizures HP:0001250
136 142 ataxia HP:0001251
148 162 incoordination HP:0002311
277 295 voracious appetite HP:0002591
299 306 obesity HP:0001513
353 362 hypotonia HP:0001252
464 481 facial appearance HP:0001999
531 544 hypertelorism HP:0000316
727 748 ataxic-like move... |
12473765 | Four sets of clinical diagnostic criteria for neurofibromatosis 2 (NF2) have been developed by groups of expert clinicians, but sensitivity has never been formally assessed. The sets of criteria differ for people without bilateral vestibular schwannomas, which are pathognomonic for NF2.
To empirically evaluate the fou... | 46 63 neurofibromatosis HP:0006746
221 253 bilateral vestibular schwannomas HP:0009589
482 514 bilateral vestibular schwannomas HP:0009589
1268 1300 bilateral vestibular schwannomas HP:0009589
|
19206155 | Branchio-oto-renal syndrome is a heterogeneous disorder inherited in an autosomal dominant pattern, characterized by branchial arch abnormalities, hearing loss and renal abnormalities, with mutations in EYA1 reported in 30-70% of patients. We have applied a molecular testing strategy of sequencing of the complete codin... | 33 46 heterogeneous HP:0001425
72 90 autosomal dominant HP:0000006
117 145 branchial arch abnormalities HP:0009794
147 159 hearing loss HP:0000365
164 183 renal abnormalities HP:0000077
|
12136076 | Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene cause the inherited disorder NF2 and are also common in malignant mesothelioma, which is not a characteristic feature of NF2. The authors report an asbestos-exposed person with NF2 and malignant mesothelioma. Immunohistochemical analysis of the mesothelio... | 17 34 neurofibromatosis HP:0006746
43 48 tumor HP:0002664
121 143 malignant mesothelioma HP:0100001
250 272 malignant mesothelioma HP:0100001
310 322 mesothelioma HP:0100001
562 589 susceptible to mesothelioma HP:0006741
|
19476995 | Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germline mutation from an affect... | 0 17 Neurofibromatosis HP:0006746
31 49 autosomal-dominant HP:0000006
50 68 multiple neoplasia HP:0003008
117 123 tumour HP:0002664
358 374 de novo mutation HP:0003745
379 396 neurofibromatosis HP:0006746
422 444 nervous system tumours HP:0004375
446 457 schwannomas HP:0100008
459 470 meningiomas HP:0002858
472 483 epe... |
8751853 | Neurofibromatosis 2 (NF2) features bilateral vestibular schwannomas, other benign neural tumors, and cataracts. Patients in some families develop many tumors at an early age and have rapid clinical progression, whereas in other families, patients may not have symptoms until much later and vestibular schwannomas may be ... | 0 17 Neurofibromatosis HP:0006746
35 67 bilateral vestibular schwannomas HP:0009589
82 95 neural tumors HP:0004375
101 110 cataracts HP:0000518
146 157 many tumors HP:0003008
164 173 early age HP:0003593
290 312 vestibular schwannomas HP:0009588
329 335 tumors HP:0002664
855 866 meningiomas HP:0002858
879 890 skin tumo... |
8929945 | We report the clinical features in 27 Australasian patients with Angelman syndrome (AS), all with a DNA deletion involving chromosome 15(q11-13), spanning markers from D15S9 to D15S12, about 3 center dot 5 Mb of DNA. There were nine males and 18 females. All cases were sporadic. The mean age at last review (end of 1994... | 270 278 sporadic HP:0003745
389 395 ataxic HP:0001251
397 414 severely retarded HP:0010864
420 448 lacking recognisable speech. HP:0001617
677 703 poor postnatal head growth HP:0000241
705 718 Short stature HP:0004322
785 803 Hypotonia at birth HP:0001319
836 865 neonatal feeding difficulties HP:0008872
896 904 Epileps... |
9863591 | Patients who present with unilateral vestibular schwannomas either at a young age or with additional features of type 2 neurofibromatosis (NF2) are at risk of developing bilateral disease and transmitting a risk of neurogenic tumours to their offspring. We have identified 15 patients from a series of 537 with unilatera... | 26 59 unilateral vestibular schwannomas HP:0009590
72 81 young age HP:0003593
120 137 neurofibromatosis HP:0006746
170 187 bilateral disease HP:0009589
215 233 neurogenic tumours HP:0004375
311 344 unilateral vestibular schwannomas HP:0009590
394 401 tumours HP:0002664
458 476 neurogenic tumours HP:0004375
548 554 tumo... |
7628117 | Three successive generations in two families affected with the popliteal pterygium syndrome are reported. While expression of the syndrome was relatively mild in the first and second generation, the patients in the third generation showed the full-blown syndrome. Differential diagnosis between mildly affected patients ... | 63 82 popliteal pterygium HP:0009756
329 348 popliteal pterygium HP:0009756
|
7450780 | Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, l... | 23 35 happy puppet HP:0100024
183 208 severe mental retardation HP:0002187
210 228 epileptic seizures HP:0002133
230 281 easily provoked and prolonged paroxysms of laughter HP:0000749
260 281 paroxysms of laughter HP:0000749
283 306 atactic jerky movements HP:0001251
308 317 hypotonia HP:0001252
319 333 large mandible ... |
1479598 | A clinical and genetic study of type 2 neurofibromatosis (NF2) has been carried out in the United Kingdom. Virtually complete ascertainment of cases in the north-west of England was achieved and suggests a population incidence of 1 in 33,000 to 40,000. In the UK as a whole, 150 cases have been identified and been used ... | 39 56 neurofibromatosis HP:0006746
375 405 autosomal dominant inheritance HP:0000006
892 924 bilateral vestibular schwannomas HP:0009589
1004 1011 tumours HP:0002664
|
18283415 | Growth/differentiation factor 5 (GDF5) is a secreted growth factor that plays a key regulatory role in embryonic skeletal and joint development. Mutations in the GDF5 gene can cause different types of skeletal dysplasia, including brachydactyly type C (BDC) and proximal symphalangism (SYM1). We report two novel mutatio... | 201 219 skeletal dysplasia HP:0002652
231 251 brachydactyly type C HP:0009373
253 256 BDC HP:0009373
262 284 proximal symphalangism HP:0100264
374 392 limb malformations HP:0002813
|
6774282 | Neurofibromatosis includes the common "peripheral" form and a recently documented "central" form. We describe the central form in 130 cases from 9 kindreds personally studied and 15 reported kindreds. Central neurofibromatosis with bilateral acoustic neuroma is an autosomal dominant disorder beginning about 20 years of... | 0 17 Neurofibromatosis HP:0006746
209 226 neurofibromatosis HP:0006746
232 258 bilateral acoustic neuroma HP:0009589
265 292 autosomal dominant disorder HP:0000006
346 358 skin changes HP:0000951
391 408 neurofibromatosis HP:0006746
589 606 neurofibromatosis HP:0006746
721 738 neurofibromatosis HP:0006746
|
11078565 | We present a child with mild to moderate global developmental delay including severe speech impairment, inappropriate happy demeanor, wide-based gait, frequent ear infections with mild hearing loss, deep-set eyes, a wide mouth, widely-spaced teeth, normal head circumference, and no seizures. Results of peripheral blood... | 24 67 mild to moderate global developmental delay HP:0011342
85 102 speech impairment HP:0002167
104 132 inappropriate happy demeanor HP:0100024
134 149 wide-based gait HP:0002136
151 174 frequent ear infections HP:0000403
185 197 hearing loss HP:0000365
199 212 deep-set eyes HP:0000490
216 226 wide mouth HP:0000154
22... |
12011146 | Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease. We identified 45 patients aged 30 years or less at the onset of symptoms of a unilateral vestibular schwannoma. Molecular ... | 0 17 Neurofibromatosis HP:0006746
79 111 unilateral vestibular schwannoma HP:0009590
117 126 young age HP:0003593
179 196 bilateral disease HP:0009589
276 308 unilateral vestibular schwannoma HP:0009590
415 421 tumour HP:0002664
555 561 tumour HP:0002664
618 624 tumour HP:0002664
686 692 tumour HP:0002664
722 728 tumou... |
11382639 | To describe the ophthalmic and systemic features in a series of patients initially seen with eyelid basal cell carcinoma associated with Gorlin-Goltz syndrome.
Retrospective noncomparative case series.
Of 105 consecutive patients with eyelid basal cell carcinoma managed at an Ocular Oncology Center between January 19... | 100 120 basal cell carcinoma HP:0002671
244 264 basal cell carcinoma HP:0002671
487 507 basal cell carcinoma HP:0002671
768 788 basal cell carcinoma HP:0002671
979 1000 basal cell carcinomas HP:0002671
1022 1037 frontal bossing HP:0002007
1041 1080 increased occipitofrontal circumference HP:0000256
1100 1111 palmar pit... |
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