Menu
▾
▴
[Obo-svn-commit] SF.net SVN: obo:[2899] phenotype-commons/annotations/OMIM/by-disease/ annotated/MIM-146510_Pallister-Hall.tab
|
From: <doe...@us...> - 2009-10-29 22:10:34
|
Revision: 2899
http://obo.svn.sourceforge.net/obo/?rev=2899&view=rev
Author: doelkens
Date: 2009-10-29 22:10:26 +0000 (Thu, 29 Oct 2009)
Log Message:
-----------
Modified Paths:
--------------
phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-146510_Pallister-Hall.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-146510_Pallister-Hall.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-146510_Pallister-Hall.tab 2009-10-29 22:09:54 UTC (rev 2898)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-146510_Pallister-Hall.tab 2009-10-29 22:10:26 UTC (rev 2899)
@@ -1,49 +1,49 @@
-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:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000006 Autosomal dominant inheritance
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000054 Micropenis rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000086 Ectopic kidney occasional
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000089 Renal hypoplasia occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000171 Microglossia rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000204 Cleft lip rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000358 Posteriorly rotated ears very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000393 Microtia very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000413 External auditory canal atresia very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000425 Flattened nasal bridge occasional
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000463 Anteverted nostrils occasional
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000568 Microphthalmos very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000695 Neonatal teeth very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000835 Adrenal hypoplasia occasional
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000902 Rib fusion very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0001162 Postaxial polydactyly (hands) typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0001629 Ventricular septal defect rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0001643 Patent ductus arteriosus rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0001770 Toe syndactyly occasional
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0001830 Postaxial polydactyly (feet) typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0002023 Anal atresia occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0002164 Nail dysplasia rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0002827 Dislocated hips very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0002937 Hemivertebrae very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0003048 Radial head subluxation very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0003196 Nasal hypoplasia rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0003811 Neonatal death occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0005151 Proximal aortic coarctation rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0006402 Distal shortening of limbs occasional
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0007601 Midline facial capillary hemangioma very rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0008188 Thyroid dysplasia/aplasia rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0008734 Decreased testicular size occasional
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0008746 Bifid or hypoplastic epiglottis 40% PMID:15782417
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0008751 Laryngeal cleft typical
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0010044 Hypoplastic/short 4th metacarpal rare
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0006159 Central polydactyly (hands) common http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0010112 Central polydactyly (feet) common http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0002444 Hypothalamic hamartoma typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0006042 Y-shaped metacarpals typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000088 Cystic kidney occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0008706 Distal urethral duplication occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0002101 Abnormal lung lobation occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0001250 Seizures occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000824 Growth hormone deficiency occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000824 Growth hormone deficiency occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000826 Precocious puberty occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0000871 Panhypopituitarism occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
-MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240 (NM_000168.2: mutations in range c.1998-3481) / wt GLI3 HP:0008220 Hypocortisolemia rare http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+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 Evidence Frequency Abnormal ID Abnormal Name Description Orthologs Pub Date Created
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000006 Autosomal dominant inheritance
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000054 Micropenis rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000086 Ectopic kidney occasional
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000089 Renal hypoplasia occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000171 Microglossia rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000204 Cleft lip rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000358 Posteriorly rotated ears very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000393 Microtia very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000413 External auditory canal atresia very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000425 Flattened nasal bridge occasional
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000463 Anteverted nostrils occasional
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000568 Microphthalmos very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000695 Neonatal teeth very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000835 Adrenal hypoplasia occasional
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000902 Rib fusion very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0001162 Postaxial polydactyly (hands) typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0001629 Ventricular septal defect rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0001643 Patent ductus arteriosus rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0001770 Toe syndactyly occasional
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0001830 Postaxial polydactyly (feet) typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0002023 Anal atresia occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0002164 Nail dysplasia rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0002827 Dislocated hips very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0002937 Hemivertebrae very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0003048 Radial head subluxation very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0003196 Nasal hypoplasia rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0003811 Neonatal death occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0005151 Proximal aortic coarctation rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0006402 Distal shortening of limbs occasional
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0007601 Midline facial capillary hemangioma very rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0008188 Thyroid dysplasia/aplasia rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0008734 Decreased testicular size occasional
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0008746 Bifid or hypoplastic epiglottis 40% PMID:15782417
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0008751 Laryngeal cleft typical
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0010044 Hypoplastic/short 4th metacarpal rare
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0006159 Central polydactyly (hands) common http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0010112 Central polydactyly (feet) common http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0002444 Hypothalamic hamartoma typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0006042 Y-shaped metacarpals typical http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000088 Cystic kidney occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0008706 Distal urethral duplication occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0002101 Abnormal lung lobation occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0001250 Seizures occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000824 Growth hormone deficiency occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000824 Growth hormone deficiency occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000826 Precocious puberty occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0000871 Panhypopituitarism occasional http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
+MIM:146510 PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY MIM:165240 GLI-KRUPPEL FAMILY MEMBER 3 MIM:165240-NM_000168.2_c.1998-3481 / wt GLI3 HP:0008220 Hypocortisolemia rare http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phs 16.10.2009
This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site.
|