From: <doe...@us...> - 2009-10-28 02:16:45
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Revision: 2888 http://obo.svn.sourceforge.net/obo/?rev=2888&view=rev Author: doelkens Date: 2009-10-28 02:16:34 +0000 (Wed, 28 Oct 2009) Log Message: ----------- Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-109400_Basal Cell Nevus.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-109400_Basal Cell Nevus.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-109400_Basal Cell Nevus.tab 2009-10-27 21:41:46 UTC (rev 2887) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-109400_Basal Cell Nevus.tab 2009-10-28 02:16:34 UTC (rev 2888) @@ -1,30 +1,28 @@ Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Entity ID Entity Name Quality ID Quality Name Add'l Entity ID Add'l Entity Name Mode of inheritance ID Mode of inheritance Name Age of Onset ID Age of Onset Name Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000006 Autosomal dominant inheritance 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000119 Genitourinary abnormality 17.02.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000280 Coarse facial features 54% PMID:9096761 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000175 Cleft palate 5% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000204 Cleft lip 5% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000316 Hypertelorism 17.02.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000316 Hypertelorism 42% PMID:9096761 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000424 Broad nasal root 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000486 Strabismus 5% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000518 Cataract 5% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000612 Iris coloboma 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000892 Bifid ribs common http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000908 Hypoplastic ribs 17.02.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000892 Bifid ribs 26% PMID:9096761 17.02.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0005815 Supernumerary ribs very rare MIM: 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002130 Delayed motor milestones HP:0003580 Onset in early childhood frequent http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0001626 Cardiovascular abnormality 17.02.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0001627 Cardiac abnormality 2-20% creation of term cardiac fibroma is in progress; change annotation later http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002086 Respiratory abnormality 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002671 Basal cell carcinoma 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002751 Kyphoscoliosis 17.02.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002650 Scoliosis rare MIM: 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002885 Medulloblastoma HP:0003580 Onset in early childhood 5% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0004587 abnormal cervical vertebrae 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000254 Frontal bossing 60% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 17.02.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0004656 Mild mandibular prognathism 17.02.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0004656 Mild mandibular prognathism 4/10 PMID:12116218 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0004795 hamartomatous stomach polyps 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0009650 Hypoplastic/small distal phalanx of the thumb 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0010044 Hypoplastic/short 4th metacarpal 17.02.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0001425 Heterogeneous 27.10.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000256 Macrocephaly HP:0003660 Onset in utero 60% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0001056 Milia 60% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0001056 Milia FMA:75375 Facial aspect of cranium PATO:0002002^has_cross_section(HP:0001056) has extra parts of type^has_cross_section(Milia) 60% I now the EQ is not correct but there is no term "Milia" in any of the other ontologies; need term Milia to say: Facial aspect of cranium_has extra parts of type_Milia http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0001556 Sloping shoulders 60% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000238 Hydrocephalus rare http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0008422 Wedge-shaped vertebrae common http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 @@ -35,4 +33,18 @@ MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000568 Microphthalmos 5% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0007743 Retinal pigmentary anomaly 5% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0003590 Onset in adolescence 90% add HPO term "Keratocysts of the jaw" (recently created) http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 -MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002671 Basal cell carcinoma 27.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002671 Basal cell carcinoma HP:0003663 Onset in childhood or early adulthood 90% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000951 Skin abnormality frequent change to skin tags; term recently created http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 27.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0009729 Cardiac rhabdomyoma 2-20% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0009730 Rhabdomyoma 2-20% http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0003828 Variable expressivity 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0001760 Abnormality of the feet 87% change to plantar pits; term recently created PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0003098 Minor hand anomalies 87% change to palmar pits; term recently created PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0006601 Anteriorly splayed ribs frequent http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002937 Hemivertebrae 15% PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000137 Abnormality of the ovaries 17% change to ovarian fibroma; term will be created in future PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000766 Abnormality of the sternum 13% PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0000912 Sprengel anomaly 11% PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0002948 Vertebral fusion 10% PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0005449 Bridged sella turcica 68% PMID:9096761 28.10.2009 +MIM:109400 BASAL CELL NEVUS SYNDROME GORLIN-GOLTZ SYNDROME NEVOID BASAL CELL CARCINOMA SYNDROME MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES MIM:601309 / wt; MIM:603673 / wt PTCH1; PTCH2 HP:0004280 Irregular ossification of hand bones 30% PMID:9096761 28.10.2009 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |