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[Obo-svn-commit] SF.net SVN: obo:[2885] phenotype-commons/annotations/OMIM/by-disease/ annotated
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From: <bj...@us...> - 2009-10-27 15:46:06
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Revision: 2885
http://obo.svn.sourceforge.net/obo/?rev=2885&view=rev
Author: bjruef
Date: 2009-10-27 15:45:57 +0000 (Tue, 27 Oct 2009)
Log Message:
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finished Lathosterolosis, needs to be checked
Modified Paths:
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phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-602398_Desmosterolosis.tab
Added Paths:
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phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607330_Lathosterolosis.tab
Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-602398_Desmosterolosis.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-602398_Desmosterolosis.tab 2009-10-27 01:54:29 UTC (rev 2884)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-602398_Desmosterolosis.tab 2009-10-27 15:45:57 UTC (rev 2885)
@@ -1,5 +1,5 @@
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:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002; MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0000007 Autosomal recessive inheritance each allele has missense mutation(s); should this be included in Genotype field? PMID:11519011
+MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002; MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0000007 Autosomal recessive inheritance each of the three alleles has 1 or 2 missense mutations; should this be included in the Genotype field? PMID:11519011
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0000033 Ambiguous genitalia, male FMA:67811 Male human body HP:0000062 Ambiguous genitalia 1/2 PMID:12457401
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0000061 Ambiguous genitalia, female FMA:67812 Female human body HP:0000062 Ambiguous genitalia 1/2 PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002; MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0000175 Cleft palate FMA:54549 Palate PATO:0000403 cleft 2/2 PMID:9450875; PMID:12457401
@@ -9,14 +9,14 @@
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0000358 Posteriorly rotated ears FMA:52780 Ear PATO:0001922 mislocalised posteriorly 1/2 PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0000369 Low-set ears FMA:52780 Ear PATO:0001476 decreased position 1/2 PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0001263 Developmental retardation 1/2 PMID:12457401
-MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002; MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0001939 Metabolism abnormality GO:0008152 metabolic process PATO:0000001 quality 2/2 PATO:0000460 abnormal Abnormality of cholesterol metabolism might be more specific PMID:11519011
+MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002; MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0001939 Metabolism abnormality GO:0008152 metabolic process PATO:0000001 quality 2/2 PATO:0000460 abnormal PMID:11519011
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0002796 Osteosclerosis FMA:5018 Bone organ PATO:0001788 increased density 1/2 PATO:0001869 pathological PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0002968 Rhizomelic shortening 1/2 PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0005160 Total anomalous pulmonary venous return 1/2 PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0005281 Hypoplastic nasal bridge 1/2 PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0009085 Alveolar ridge overgrowth 1/2 PMID:9450875
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0000256 Macrocephaly FMA:46565 Skull PATO:0000586 increased size 1/2 PMID:9450875 Oct 21, 2009
-MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0000168 Anormality of the gingiva FMA:59762 Gingiva PATO:0002125 nodular 1/2 PMID:9450875 Oct 21, 2009
+MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002 DHCR24 HP:0000169 Gingival fibromatosis FMA:59762 Gingiva PATO:0002002 has extra parts of type MPATH:407 Fibroma 1/2 PMID:9450875 Oct 21, 2009
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0000494 Downward slanting palpebral fissures 1/2 PMID:12457401 Oct 22, 2009
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0001643 Patent ductus arteriosus 1/2 PMID:12457401 Oct 22, 2009
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0001776 Bilateral club feet 1/2 PMID:12457401 Oct 22, 2009
@@ -24,3 +24,4 @@
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0000286 Epicanthal folds 1/2 PMID:12457401 Oct 22, 2009
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002; MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0007370 Aplasia/Hypoplasia of the corpus callosum 2/2 PMID:9450875; PMID:12457401 Oct 22, 2009
MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0000378 Cup-shaped ears 1/2 PMID:12457401 Oct 23, 2009
+MIM:602398 DESMOSTEROLOSIS MIM:606418 24-@DEHYDROCHOLESTEROL REDUCTASE SELECTIVE AD INDICATOR 1 DESMOSTEROL DELTA-24-REDUCTASE MIM:606418.0001 / MIM:606418.0002; MIM:606418.0003 / MIM:606418.0003 DHCR24 HP:0003107 Abnormality of cholesterol metabolism GO:0008203 cholesterol metabolic process PATO:0000001 quality 2/2 PATO:0000460 abnormal PMID:11519011 Oct 27, 2009
Added: phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607330_Lathosterolosis.tab
===================================================================
--- phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607330_Lathosterolosis.tab (rev 0)
+++ phenotype-commons/annotations/OMIM/by-disease/annotated/MIM-607330_Lathosterolosis.tab 2009-10-27 15:45:57 UTC (rev 2885)
@@ -0,0 +1,53 @@
+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:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000007 Autosomal recessive inheritance PMID:12189593; PMID:12812989; PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000079 Abnormality of the urinary tract 1/3 PMID:15580635; PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000156 High-arched palate 2/3 PMID:12189593; PMID:12812989
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000210 Micrognathia FMA:54396 Jaw PATO:0000587 decreased size 2/3 PMID:12189593; PMID:12812989
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000213 Thin lips FMA:59816 Lip PATO:0000592 decreased thickness 1/3 PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000215 Prominent upper lip FMA:59817 Upper lip PATO:0001482 prominent 1/3 PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000252 Microcephaly FMA:46565 Skull PATO:0000587 decreased size 3/3 PMID:12812989; PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000286 Epicanthal folds 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000314 Bitemporal narrowing 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000340 Sloping forehead 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000343 Long philtrum FMA:59819 Philtrum PATO:0000573 increased length 1/3 PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000405 Hearing loss, conductive 1/2 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000431 Broad nasal bridge 1/3 PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000463 Anteverted nostrils FMA:72005 Set of nares PATO:0001474 anteverted 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000508 Ptosis 2/3 PMID:12812989; PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000518 Cataract 2/3 PMID:12812989; PMID:19123163
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0003316 Butterfly vertebrae FMA:9991 Eighth thoracic vertebra PATO:0000403 cleft 1/3 PATO:0000460 abnormal PMID:12189593; PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000939 Osteoporosis _:increased_bone_resorption_and__:decreased_osteogenesis null 1/3 PATO:0001869 pathological PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0001080 Biliary tract abnormality FMA:79646 Biliary system PATO:0000001 quality 1/3 PATO:0000460 abnormal PMID:15580635
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0001249 Mental retardation 1/3 PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0001252 Muscular hypotonia FMA:30316 Muscle PATO:0001619 decreased tonicity 1/3 PATO:0001869 pathological PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0001406 Intrahepatic cholestasis 1/3 PMID:15580635
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0001762 Talipes equinovarus 1/3 PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001770 Toe syndactyly FMA:25046 Toe HP:0001159 Syndactyly 3/3 PMID:12189593; PMID:12812989; PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0001927 Red cell acanthocytosis 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0001981 Schistocytes 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0002756 Pathologic fractures HP:0002662 Fractures 1/3 PATO:0001869 pathological PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0002904 Hyperbilirubinemia 1/3 PMID:12812989; PMID:15580635
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0002910 Elevated transaminases 1/3 PMID:12189593; PMID:15580635
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0003155 Elevated alkaline phosphatase 1/3 PMID:12189593; PMID:15580635
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0004823 anisopoikilocytosis 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0005608 Bilobate gallbladder 1/3 PMID:12189593
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0005808 Postaxial hexadactyly 1/3 PMID:17853487
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0002475 Meningomyelocele 1/3 PMID:12189593 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0002308 Arnold-Chiari malformation 1/3 Couldn't find Type II in the HP, only Type I PMID:12189593 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001830 Postaxial polydactyly (feet) 3/3 PMID:12189593; PMID:12812989; PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000033 Ambiguous genitalia, male 1/3 PMID:12812989 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000085 Horseshoe kidney 1/3 PMID:15580635; PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0000494 Downward slanting palpebral fissures 1/3 PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001514 Postnatal growth retardation 2/2 PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001510 Growth retardation 2/2 PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001999 Facial dysmorphism 3/3 PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0003196 Nasal hypoplasia 2/3 PMID:12812989; PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000515 Corneal clouding 1/3 PMID:2309789 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0000195 Gingival hypertrophy 2/3 PMID:2309789; PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001433 Hepatosplenomegaly 1/3 PMID:2309789 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001250 Seizures 1/3 PMID:2309789 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0001392 Abnormality of the liver 3/3 PMID:17853487 Oct 26, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0002813 Abnormality of the extremities FMA:71222 Appendicular skeleton PATO:0000001 quality 3/3 PATO:0000460 abnormal PMID:17853487 Oct 27, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002 SC5DL HP:0009121 Abnormality of the axial skeleton 2/3 PATO:0000460 abnormal PMID:17853487 Oct 27, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0002059 Cerebral atrophy 1/3 PMID:2309789 Oct 27, 2009
+MIM:607330 LATHOSTEROLOSIS SC5D DEFICIENCY MIM:602286 STEROL C5-DESATURASE-LIKE 3-@BETA-HYDROXYSTEROID-DELTA-5-DESATURASE DELTA-5-DESATURASE LATHOSTEROL DEHYDROGENASE ERG3, CANDIDA GLABRATA, HOMOLOG OF MIM:602286.0001 / MIM:602286.0002; MIM:602286.0003 / MIM:602286.0003 SC5DL HP:0003609 Electron microscopy of foam cells shows lamellar inclusions 2/2 PMID:2309789; PMID:17853487 Oct 27, 2009
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