From: <pr...@us...> - 2012-07-29 16:16:16
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Revision: 4495 http://obo.svn.sourceforge.net/obo/?rev=4495&view=rev Author: probins Date: 2012-07-29 16:16:09 +0000 (Sun, 29 Jul 2012) Log Message: ----------- Revised Skel Dys annotations Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101800.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150230.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190350.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231050.tab Added Paths: ----------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105835.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101800.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101800.tab 2012-07-29 13:35:27 UTC (rev 4494) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-101800.tab 2012-07-29 16:16:09 UTC (rev 4495) @@ -1,5 +1,5 @@ Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:101800 ACRODYSOSTOSIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:101800 HPO 17.02.2009 +MIM:101800 ACRODYSOSTOSIS HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:101800 HPO:probinson 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0000028 Cryptorchidism IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0000135 Hypogonadism IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0000238 Hydrocephalus IEA IEA OMIM:101800 HPO 17.02.2009 @@ -18,22 +18,22 @@ OMIM:101800 ACRODYSOSTOSIS HP:0000689 Dental malocclusion IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0000858 Menstrual irregularities TAS TAS OMIM:101800 probinson 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0000995 Pigmented nevi IEA IEA OMIM:101800 HPO 17.02.2009 -OMIM:101800 ACRODYSOSTOSIS HP:0001174 Short broad hands IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0001249 Intellectual disability IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0001530 Mild postnatal growth retardation IEA IEA OMIM:101800 SKOEHLER 20.06.2010 OMIM:101800 ACRODYSOSTOSIS HP:0001847 Long hallux IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0002650 Scoliosis IEA IEA OMIM:101800 HPO 17.02.2009 -OMIM:101800 ACRODYSOSTOSIS HP:0002773 Small vertebral bodies IEA IEA OMIM:101800 HPO 17.02.2009 +OMIM:101800 ACRODYSOSTOSIS HP:0001169 Broad palm IEA IEA OMIM:101800 HPO:probinson 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0003083 Dislocated radial head IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0003416 Spinal canal stenosis IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0004490 Calvarial hyperostosis IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0005616 Accelerated skeletal maturation IEA IEA OMIM:101800 HPO 17.02.2009 -OMIM:101800 ACRODYSOSTOSIS HP:0005756 Epiphyseal stippling in neonates IEA IEA OMIM:101800 HPO 17.02.2009 +OMIM:101800 ACRODYSOSTOSIS HP:0005756 Neonatal epiphyseal stippling IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0008450 Narrow vertebral interpedicular distance IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM:101800 HPO 17.02.2009 -OMIM:101800 ACRODYSOSTOSIS HP:0009803 Hypoplastic/small phalanges of the hand IEA IEA OMIM:101800 HPO 17.02.2009 +OMIM:101800 ACRODYSOSTOSIS HP:0009803 Short phalanx of finger IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0010049 Short metacarpal IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0010230 Cone-shaped epiphyses of the phalanges of the hand IEA IEA OMIM:101800 HPO 17.02.2009 OMIM:101800 ACRODYSOSTOSIS HP:0010743 Short metatarsal bone IEA IEA OMIM:101800 HPO 17.02.2009 -OMIM:101800 ACRODYSOSTOSIS HP:0000463 Anteverted nares TAS TAS OMIM:101800 probinson 01.05.2012 +OMIM:101800 ACRODYSOSTOSIS HP:0000463 Anteverted nares TAS TAS OMIM:101800 HPO:probinson 01.05.2012 OMIM:101800 ACRODYSOSTOSIS HP:0005280 Depressed nasal bridge TAS TAS OMIM:101800 probinson 01.05.2012 +OMIM:101800 ACRODYSOSTOSIS HP:0004279 Short palm IEA IEA OMIM:101800 HPO:probinson 29.07.2012 Added: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105835.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105835.tab (rev 0) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-105835.tab 2012-07-29 16:16:09 UTC (rev 4495) @@ -0,0 +1,7 @@ +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +MIM:105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0004322 Short stature TAS TAS MIM:105835 HPO:probinson 29.07.2012 +MIM:105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0003088 Premature osteoarthritis TAS TAS MIM:105835 HPO:probinson 29.07.2012 +MIM:105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0001187 Hyperextensibility of the finger joints TAS TAS MIM:105835 HPO:probinson 29.07.2012 +MIM:105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0001216 Delayed ossification of carpal bones TAS TAS MIM:105835 HPO:probinson 29.07.2012 +MIM:105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0009193 Pseudoepiphyses of the metacarpals TAS TAS MIM:105835 HPO:probinson 29.07.2012 +MIM:105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0008843 Hip osteoarthritis TAS TAS MIM:105835 HPO:probinson 29.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150230.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150230.tab 2012-07-29 13:35:27 UTC (rev 4494) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-150230.tab 2012-07-29 16:16:09 UTC (rev 4495) @@ -15,7 +15,7 @@ OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0001159 Syndactyly IEA IEA OMIM:150230 SKOEHLER 18.06.2010 OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0001252 Muscular hypotonia IEA IEA OMIM:150230 HPO 17.02.2009 OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0001382 Joint hypermobility IEA IEA OMIM:150230 HPO 17.02.2009 -OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0001530 Mild postnatal growth retardation IEA IEA OMIM:150230 HPO 17.02.2009 +OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0001530 Mild postnatal growth retardation TAS TAS OMIM:150230 HPO:probinson 17.02.2009 OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0001808 Fragile nails IEA IEA OMIM:150230 HPO 17.02.2009 OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0002209 Sparse scalp hair IEA IEA OMIM:150230 HPO 17.02.2009 OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II HP:0002650 Scoliosis IEA IEA OMIM:150230 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190350.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190350.tab 2012-07-29 13:35:27 UTC (rev 4494) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-190350.tab 2012-07-29 16:16:09 UTC (rev 4495) @@ -1,40 +1,44 @@ Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000189 Narrow palate IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000347 Micrognathia TAS TAS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000219 Thin upper lip vermilion IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000382 Large, prominent ears IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000447 Pear-shaped nose IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000684 Delayed eruption of teeth IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000689 Dental malocclusion IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000691 Microdontia TAS TAS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000768 Pectus carinatum TAS TAS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0004322 Short stature TAS TAS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001598 Concave nail IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001547 Abnormality of the morphology or size of the rib cage IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001763 Pes planus IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010743 Short metatarsal bone PCS PCS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001816 Thin nail IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001820 Leukonychia IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002205 Recurrent respiratory infections IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002217 Slow-growing hair IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0008070 Sparse hair PCS PCS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002213 Fine hair PCS PCS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002554 Thin eyebrows IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002650 Scoliosis IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002805 Accelerated bone age after puberty IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002939 Lordosis IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0003279 Coxa magna IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0003370 Flat capital femoral epiphysis IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0003691 Scapular winging TAS TAS MIM:190350 probinson 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0004654 prominent, long philtrum IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0006105 Eburnated epiphyses of distal phalanges IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0006253 Swelling of proximal interphalangeal joints IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0008860 Mild growth deficiency IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0008947 Infantile muscular hypotonia IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010049 Short metacarpal IEA IEA 17.02.2009 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000343 Long philtrum TAS TAS MIM:190350 probinson 01.05.2012 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002002 Deep philtrum TAS TAS MIM:190350 probinson 01.05.2012 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand TAS TAS MIM:190350 probinson 10.06.2012 -MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand TAS TAS MIM:190350 probinson 10.06.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000006 Autosomal dominant inheritance TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000189 Narrow palate TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000347 Micrognathia TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000219 Thin upper lip vermilion TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000412 Prominent ears TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000684 Delayed eruption of teeth TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000689 Dental malocclusion TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000691 Microdontia TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000768 Pectus carinatum TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0004322 Short stature TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001763 Pes planus TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010743 Short metatarsal bone TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001816 Thin nail TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001820 Leukonychia TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002217 Slow-growing hair TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0008070 Sparse hair PCS PCS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002213 Fine hair PCS PCS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002650 Scoliosis TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002750 Delayed skeletal maturation TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002805 Accelerated bone age after puberty TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002939 Lordosis TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0003279 Coxa magna TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0003370 Flat capital femoral epiphysis TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0003691 Scapular winging TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0006105 Eburnated epiphyses of distal phalanges TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0006253 Swelling of proximal interphalangeal joints TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0008947 Infantile muscular hypotonia TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010049 Short metacarpal TAS TAS MIM:190350 HPO:probinson 17.02.2009 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000343 Long philtrum TAS TAS MIM:190350 HPO:probinson 01.05.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand TAS TAS MIM:190350 HPO:probinson 10.06.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand TAS TAS MIM:190350 HPO:probinson 10.06.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000447 Pear-shaped nose TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001510 Growth delay TAS TAS Mild MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0005338 Sparse lateral eyebrow TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002002 Deep philtrum TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0011823 Chin with horizontal crease TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000670 Carious teeth TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000938 Osteopenia HP:0003584 Late onset TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002758 Osteoarthritis HP:0003584 Late onset TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0002829 Arthralgia HP:0003584 Late onset TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0001598 Concave nail TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0010300 Abnormally low-pitched voice TAS TAS MIM:190350 HPO:probinson 29.07.2012 +MIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I MIM:604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1 TRPS1 HP:0000768 Pectus carinatum TAS TAS MIM:190350 HPO:probinson 29.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231050.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231050.tab 2012-07-29 13:35:27 UTC (rev 4494) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231050.tab 2012-07-29 16:16:09 UTC (rev 4495) @@ -8,7 +8,7 @@ OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0000767 Pectus excavatum IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0000938 Osteopenia IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0001072 Thickened skin IEA IEA OMIM:231050 HPO 17.02.2009 -OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0001239 Wrist contractures IEA IEA OMIM:231050 HPO 17.02.2009 +OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0001239 Wrist flexion contracture IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0001250 Seizures IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0001263 Global developmental delay IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0001620 High pitched voice IEA IEA OMIM:231050 HPO 17.02.2009 @@ -22,13 +22,14 @@ OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0002680 J-shaped sella turcica IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0002777 Tracheal stenosis IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0003196 Short nose IEA IEA OMIM:231050 HPO 17.02.2009 -OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0004279 Short palm IEA IEA OMIM:231050 HPO 17.02.2009 -OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0004322 Short stature IEA IEA OMIM:231050 HPO 17.02.2009 -OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0004988 shortened long tubular bones IEA IEA OMIM:231050 HPO 17.02.2009 -OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0005041 Small, irregular capital femoral epiphyses IEA IEA OMIM:231050 HPO 17.02.2009 +OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0004279 Short palm TAS TAS OMIM:231050 HPO:probinson 17.02.2009 +OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0004322 Short stature TAS TAS OMIM:231050 HPO:probinson 17.02.2009 +OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0003026 Short long bones TAS TAS OMIM:231050 HPO:probinson 17.02.2009 +OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0005041 Irregular capital femoral epiphysis IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0006161 Short metacarpals with rounded proximal ends IEA IEA OMIM:231050 HPO 17.02.2009 -OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0009473 Joint contractures involving the joints of the hand IEA IEA OMIM:231050 HPO 17.02.2009 +OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0009473 Joint contracture of the hand IEA IEA OMIM:231050 HPO 17.02.2009 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0010446 Tricuspid stenosis IEA IEA OMIM:231050 SKOEHLER 18.06.2010 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0000319 Smooth philtrum TAS TAS OMIM:231050 probinson 01.05.2012 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0000343 Long philtrum TAS TAS OMIM:231050 probinson 01.05.2012 OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0003090 Hypoplasia of the capital femoral epiphysis TAS TAS OMIM:231050 probinson 26.05.2012 +OMIM:231050 GELEOPHYSIC DYSPLASIA HP:0001387 Joint stiffness PCS PCS pmid:21415077 HPO:probinson 29.07.2012 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |