From: <pr...@us...> - 2012-07-19 18:46:33
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Revision: 4451 http://obo.svn.sourceforge.net/obo/?rev=4451&view=rev Author: probins Date: 2012-07-19 18:46:24 +0000 (Thu, 19 Jul 2012) Log Message: ----------- ITM Revisions Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118830.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125630.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152700.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169500.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203100.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221350.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256540.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257200.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300042.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-300323.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-305400.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-312863.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601466.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-603116.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606693.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606824.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607004.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607831.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-113620.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,72 +1,71 @@ -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:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000028 Cryptorchidism IEA IEA 73.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000047 Hypospadias IEA IEA 33.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000104 Renal agenesis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000107 Renal cysts IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000164 Abnormality of the teeth IEA IEA 56.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000175 Cleft palate IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000196 Lower lip pit IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000204 Cleft upper lip IEA IEA OMIM:113620 SKOEHLER 20.06.2010 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000252 Microcephaly IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000268 Dolichocephaly IEA IEA 23.0769 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000272 Malar hypoplasia IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000347 Micrognathia IEA IEA 50.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000350 Small forehead IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000368 Low-set, posteriorly rotated ears IEA IEA 90.4762 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000396 Overfolded helix IEA IEA 90.4762 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000405 Conductive hearing impairment IEA IEA 36.8421 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000407 Sensorineural hearing impairment IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000420 Short nasal septum IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000425 Flattened nasal bridge IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000455 Broad nasal tip IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000470 Short neck IEA IEA 66.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000480 Retinal coloboma IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000486 Strabismus IEA IEA 30.5556 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000506 Telecanthus IEA IEA 58.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000508 Ptosis IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000518 Cataract IEA IEA 24.2424 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000528 Anophthalmia IEA IEA 44.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000545 Myopia IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000568 Microphthalmos IEA IEA 44.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000579 Nasolacrimal duct obstruction IEA IEA 74.3590 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000582 Upslanted palpebral fissure IEA IEA 48.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000612 Iris coloboma IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000639 Nystagmus IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000945 Flared irregular metaphyses IEA IEA 51.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000954 Single transverse palmar crease IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000987 Atypical scarring of skin IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001057 Aplasia cutis congenita IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001177 Preaxial polydactyly (hands) IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001250 Seizures IEA IEA 23.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001256 Intellectual disability, mild IEA IEA 41.6667 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001511 Intrauterine growth retardation IEA IEA 47.0588 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001614 Hypernasal speech IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001804 Hypoplastic fingernail IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002020 Gastroesophageal reflux IEA IEA 30.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002021 Pyloric stenosis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002162 Low posterior hairline IEA IEA 92.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002211 White forelock IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002216 Premature graying of hair IEA IEA 23.6842 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002335 Agenesis of cerebellar vermis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002558 Supernumerary nipples IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002715 Abnormality of the immune system IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002808 Kyphosis IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002939 Lordosis IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002987 Elbow contractures IEA IEA 64.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004209 Clinodactyly of the 5th finger IEA IEA 21.0526 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004334 Dermal atrophy IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004464 Posterior auricular pit IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004467 Preauricular pit IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004785 Malrotation of colon IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005217 Duplication of internal organs IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005473 Fusion of middle ear ossicles IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0006610 Wide intermamillary distance IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0007461 Hemangiomatosis ITM ITM OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008551 Microtia IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008559 Hypoplastic superior helix IEA IEA 43.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008606 Supraauricular pit IEA IEA 15.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009623 Proximally placement of thumb IEA IEA 72.0000 % OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009778 Hypoplastic/small thumb IEA IEA OMIM:113620 HPO 17.02.2009 -OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0010566 Hamartoma IEA IEA OMIM:113620 SKOEHLER 20.06.2010 +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:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000028 Cryptorchidism IEA IEA 73.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000047 Hypospadias IEA IEA 33.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000104 Renal agenesis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000107 Renal cysts IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000164 Abnormality of the teeth IEA IEA 56.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000175 Cleft palate IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000196 Lower lip pit IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000204 Cleft upper lip IEA IEA OMIM:113620 SKOEHLER 20.06.2010 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000252 Microcephaly IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000268 Dolichocephaly IEA IEA 23.0769 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000272 Malar flattening IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000347 Micrognathia IEA IEA 50.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000350 Small forehead IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000368 Low-set, posteriorly rotated ears IEA IEA 90.4762 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000396 Overfolded helix IEA IEA 90.4762 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000405 Conductive hearing impairment IEA IEA 36.8421 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000407 Sensorineural hearing impairment IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000420 Short nasal septum IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000425 Flattened nasal bridge IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000455 Broad nasal tip IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000470 Short neck IEA IEA 66.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000480 Retinal coloboma IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000486 Strabismus IEA IEA 30.5556 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000506 Telecanthus IEA IEA 58.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000508 Ptosis IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000518 Cataract IEA IEA 24.2424 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000528 Anophthalmia IEA IEA 44.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000545 Myopia IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000568 Microphthalmos IEA IEA 44.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000579 Nasolacrimal duct obstruction IEA IEA 74.3590 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000582 Upslanted palpebral fissure IEA IEA 48.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000612 Iris coloboma IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000639 Nystagmus IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000945 Flared irregular metaphyses IEA IEA 51.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000954 Single transverse palmar crease IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0000987 Atypical scarring of skin IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001057 Aplasia cutis congenita IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001177 Preaxial polydactyly (hands) IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001250 Seizures IEA IEA 23.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001256 Intellectual disability, mild IEA IEA 41.6667 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001511 Intrauterine growth retardation IEA IEA 47.0588 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001614 Hypernasal speech IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0001804 Hypoplastic fingernail IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002020 Gastroesophageal reflux IEA IEA 30.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002021 Pyloric stenosis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002162 Low posterior hairline IEA IEA 92.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002211 White forelock IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002216 Premature graying of hair IEA IEA 23.6842 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002335 Agenesis of cerebellar vermis IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002558 Supernumerary nipples IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002715 Abnormality of the immune system IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002808 Kyphosis IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002939 Lordosis IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0002987 Elbow flexion contracture IEA IEA 64.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004209 Clinodactyly of the 5th finger IEA IEA 21.0526 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004334 Dermal atrophy IEA IEA 57.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004464 Posterior auricular pit IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004467 Preauricular pit IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0004785 Malrotation of colon IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005217 Duplication of internal organs IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0005473 Fusion of middle ear ossicles IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0006610 Wide intermamillary distance IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008551 Microtia IEA IEA 7.5000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008559 Hypoplastic superior helix IEA IEA 43.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0008606 Supraauricular pit IEA IEA 15.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009623 Proximal placement of thumb IEA IEA 72.0000 % OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0009778 Short thumb IEA IEA OMIM:113620 HPO 17.02.2009 +OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME HP:0010566 Hamartoma IEA IEA OMIM:113620 SKOEHLER 20.06.2010 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118830.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118830.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-118830.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,6 +1,6 @@ -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:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:118830 HPO 17.02.2009 -OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0001744 Splenomegaly IEA IEA OMIM:118830 HPO 17.02.2009 -OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:118830 HPO 17.02.2009 -OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0002027 Abdominal pain IEA IEA OMIM:118830 SKOEHLER 20.06.2010 -OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0006280 Chronic pancreatitis ITM ITM OMIM:118830 HPO 17.02.2009 +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:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:118830 probinson 17.02.2009 +OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0001744 Splenomegaly TAS TAS OMIM:118830 probinson 17.02.2009 +OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0002027 Abdominal pain TAS TAS OMIM:118830 SKOEHLER 20.06.2010 +OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0100027 Recurrent pancreatitis TAS TAS OMIM:118830 probinson 19.07.2012 +OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0010980 Hyperlipoproteinemia TAS TAS OMIM:118830 probinson 19.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125630.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125630.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-125630.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,5 +1,4 @@ -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:125630 DERMODISTORTIVE URTICARIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125630 HPO 17.02.2009 -OMIM:125630 DERMODISTORTIVE URTICARIA HP:0001041 Facial erythema IEA IEA OMIM:125630 SKOEHLER 20.06.2010 -OMIM:125630 DERMODISTORTIVE URTICARIA HP:0001279 Syncope ITM ITM OMIM:125630 HPO 17.02.2009 -OMIM:125630 DERMODISTORTIVE URTICARIA HP:0002315 Headache ITM ITM OMIM:125630 HPO 17.02.2009 +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:125630 DERMODISTORTIVE URTICARIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:125630 HPO 17.02.2009 +OMIM:125630 DERMODISTORTIVE URTICARIA HP:0001041 Facial erythema IEA IEA OMIM:125630 SKOEHLER 20.06.2010 +OMIM:125630 DERMODISTORTIVE URTICARIA HP:0001025 Urticaria TAS TAS OMIM:125630 SKOEHLER 19.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152700.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152700.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-152700.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,17 +1,15 @@ -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:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000123 Nephritis IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000709 Psychosis IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000992 Cutaneous photosensitivity IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001250 Seizures IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001369 Arthritis IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001701 Pericarditis IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001873 Thrombocytopenia IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001878 Hemolytic anemia IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001882 Leukopenia IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0002102 Pleuritis IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0002725 Systemic lupus erythematosus IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0003493 Antinuclear antibody positivity IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0003613 Phospholipid antibody positivity IEA IEA OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0003674 Onset ITM ITM OMIM:152700 HPO 17.02.2009 -OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0004431 Complement deficiency ITM ITM OMIM:152700 HPO 17.02.2009 +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:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000123 Nephritis IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000709 Psychosis IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0000992 Cutaneous photosensitivity IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001250 Seizures IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001369 Arthritis IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001701 Pericarditis IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001873 Thrombocytopenia IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001878 Hemolytic anemia IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0001882 Leukopenia IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0002102 Pleuritis IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0002725 Systemic lupus erythematosus IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0003493 Antinuclear antibody positivity IEA IEA OMIM:152700 HPO 17.02.2009 +OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS HP:0003613 Antiphospholipid antibody positivity IEA IEA OMIM:152700 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-166220.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,15 +1,15 @@ -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:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000362 Otosclerosis IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000365 Hearing impairment IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000592 Blue sclerae IEA IEA 10% OMIM:166220 SKOEHLER 20.06.2010 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000703 Dentinogenesis imperfecta IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002645 Wormian bones IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002650 Scoliosis IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002659 Increased susceptibility to fractures ITM ITM OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002757 Recurrent fractures IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002808 Kyphosis IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003023 Bowing of limbs due to multiple fractures IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003321 Biconcave flattened vertebrae IEA IEA OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0004322 Short stature HP:0003593 Infantile onset ITM ITM OMIM:166220 HPO 17.02.2009 -OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0005005 Femoral bowing present at birth, straightening with time IEA IEA OMIM:166220 HPO 17.02.2009 +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:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000362 Otosclerosis IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000365 Hearing impairment IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000592 Blue sclerae IEA IEA 10% OMIM:166220 SKOEHLER 20.06.2010 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0000703 Dentinogenesis imperfecta IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002645 Wormian bones IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002650 Scoliosis IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002659 Increased susceptibility to fractures TAS TAS OMIM:166220 probinson 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002757 Recurrent fractures IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0002808 Kyphosis IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003023 Bowing of limbs due to multiple fractures IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0003321 Biconcave flattened vertebrae IEA IEA OMIM:166220 HPO 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0004322 Short stature HP:0003593 Infantile onset TAS TAS OMIM:166220 probinson 17.02.2009 +OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV HP:0005005 Femoral bowing present at birth, straightening with time IEA IEA OMIM:166220 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169500.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169500.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-169500.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,23 +1,21 @@ -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:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000079 Abnormality of the urinary system IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000639 Nystagmus IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000802 Impotence ITM ITM OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000975 Hyperhidrosis ITM ITM OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0001064 Diaphoresis ITM ITM OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0001251 Ataxia IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0001257 Spasticity IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0001347 Hyperreflexia IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0002171 Gliosis IEA IEA OMIM:169500 SKOEHLER 20.06.2010 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0002344 Progressive neurologic deterioration IEA IEA OMIM:169500 SKOEHLER 20.06.2010 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0002415 Leukodystrophy ITM ITM OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0003487 Babinski sign IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0003581 Adult onset ITM ITM OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0003676 Progressive disorder IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0004926 Orthostatic hypotension due to autonomic dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0005341 Autonomic bladder dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0006994 Diffuse leukoencephalopathy IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0007024 Pseudobulbar paralysis IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0007262 Symmetric peripheral demyelination IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0007480 Decreased sweating due to autonomic dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 -OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0008652 Autonomic erectile dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 +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:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000079 Abnormality of the urinary system IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000639 Nystagmus IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0000802 Impotence TAS TAS OMIM:169500 probinson 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0001251 Ataxia IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0001257 Spasticity IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0001347 Hyperreflexia IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0002171 Gliosis IEA IEA OMIM:169500 SKOEHLER 20.06.2010 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0002344 Progressive neurologic deterioration IEA IEA OMIM:169500 SKOEHLER 20.06.2010 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0002415 Leukodystrophy TAS TAS OMIM:169500 probinson 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0003487 Babinski sign IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0003581 Adult onset TAS TAS OMIM:169500 probinson 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0003676 Progressive disorder IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0004926 Orthostatic hypotension due to autonomic dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0005341 Autonomic bladder dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0006994 Diffuse leukoencephalopathy IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0007024 Pseudobulbar paralysis IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0007262 Symmetric peripheral demyelination IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0007480 Decreased sweating due to autonomic dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 +OMIM:169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT HP:0008652 Autonomic erectile dysfunction IEA IEA OMIM:169500 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203100.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203100.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-203100.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,15 +1,14 @@ -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:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000483 Astigmatism IEA IEA OMIM:203100 SKOEHLER 20.06.2010 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000505 Visual impairment IEA IEA OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000526 Aniridia ITM ITM OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000540 Hypermetropia ITM ITM OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000545 Myopia ITM ITM OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000577 Exotropia IEA IEA OMIM:203100 SKOEHLER 20.06.2010 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000613 Photophobia IEA IEA OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000635 Blue irides ITM ITM OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000639 Nystagmus IEA IEA OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0001022 Albinism ITM ITM OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0001595 Abnormality of the hair IEA IEA OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:203100 HPO 17.02.2009 -OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0007750 Hypoplasia of the fovea IEA IEA OMIM:203100 HPO 17.02.2009 +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:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:203100 HPO 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000483 Astigmatism IEA IEA OMIM:203100 SKOEHLER 20.06.2010 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000505 Visual impairment IEA IEA OMIM:203100 HPO 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000545 Myopia TAS TAS OMIM:203100 probinson 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000577 Exotropia IEA IEA OMIM:203100 SKOEHLER 20.06.2010 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000613 Photophobia IEA IEA OMIM:203100 HPO 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000635 Blue irides TAS TAS OMIM:203100 probinson 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0000639 Nystagmus IEA IEA OMIM:203100 HPO 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0001022 Albinism TAS TAS OMIM:203100 probinson 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0001595 Abnormality of the hair IEA IEA OMIM:203100 HPO 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:203100 HPO 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0007750 Hypoplasia of the fovea IEA IEA OMIM:203100 HPO 17.02.2009 +OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA HP:0001107 Ocular albinism TAS TAS OMIM:203100 probinson 19.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221350.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221350.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-221350.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,9 +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 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:221350 HPO 17.02.2009 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0000365 Hearing impairment IEA IEA OMIM:221350 HPO 17.02.2009 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0001045 Vitiligo IEA IEA OMIM:221350 HPO 17.02.2009 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0002571 Achalasia IEA IEA OMIM:221350 HPO 17.02.2009 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0003202 Amyotrophy IEA IEA OMIM:221350 HPO 17.02.2009 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0004322 Short stature IEA IEA OMIM:221350 HPO 17.02.2009 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0008513 Bilateral conductive hearing impairment ITM ITM OMIM:221350 HPO 17.02.2009 -OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0008619 Bilateral sensorineural hearing impairment ITM ITM OMIM:221350 HPO 17.02.2009 +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:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:221350 HPO 17.02.2009 +OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0000365 Hearing impairment IEA IEA OMIM:221350 HPO 17.02.2009 +OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0001045 Vitiligo IEA IEA OMIM:221350 HPO 17.02.2009 +OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0002571 Achalasia IEA IEA OMIM:221350 HPO 17.02.2009 +OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0003202 Amyotrophy IEA IEA OMIM:221350 HPO 17.02.2009 +OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA HP:0004322 Short stature IEA IEA OMIM:221350 HPO 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256540.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256540.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-256540.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,14 +1,14 @@ -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:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000280 Coarse facial features IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000365 Hearing impairment IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000524 Conjunctival telangiectasia IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000943 Dysostosis multiplex IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001028 Hemangiomas IEA IEA OMIM:256540 SKOEHLER 20.06.2010 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001249 Intellectual disability IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001250 Seizures IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001433 Hepatosplenomegaly ITM ITM OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0003510 Severe short stature IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0008166 Decreased beta-galactosidase activity ITM ITM OMIM:256540 HPO 17.02.2009 -OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0010729 Cherry red spot of the macula IEA IEA OMIM:256540 SKOEHLER 17.02.2009 +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:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000280 Coarse facial features IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000365 Hearing impairment IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000524 Conjunctival telangiectasia IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0000943 Dysostosis multiplex IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001028 Hemangioma IEA IEA OMIM:256540 SKOEHLER 20.06.2010 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001249 Intellectual disability IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001250 Seizures IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0001433 Hepatosplenomegaly TAS TAS Occasional OMIM:256540 probinson 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0003510 Severe short stature IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0007759 Opacification of the corneal stroma IEA IEA OMIM:256540 HPO 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0008166 Decreased beta-galactosidase activity TAS TAS OMIM:256540 probinson 17.02.2009 +OMIM:256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY HP:0010729 Cherry red spot of the macula IEA IEA OMIM:256540 SKOEHLER 17.02.2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257200.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257200.tab 2012-07-19 18:20:24 UTC (rev 4450) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-257200.tab 2012-07-19 18:46:24 UTC (rev 4451) @@ -1,30 +1,30 @@ -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:257200 NIEMANN-PICK DISEASE, TYPE A HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0000939 Osteoporosis IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001114 Xanthelasma ITM ITM OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001249 Intellectual disability IEA IEA OMIM:257200 SKOEHLER 18.06.2010 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001252 Muscular hypotonia IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001257 Spasticity IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001265 Hyporeflexia IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001324 Muscle weakness IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001508 Failure to thrive IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001538 Protuberant abdomen IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001744 Splenomegaly IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001935 Microcytic anemia IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001982 Sea-blue histiocytosis IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002013 Vomiting IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002019 Constipation IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002063 Rigidity IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002205 Recurrent respiratory infections IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002207 Diffuse reticular or finely nodular infiltrations IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002240 Hepatomegaly IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002305 Athetosis IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002716 Lymphadenopathy IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0003593 Infantile onset IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0003609 Foam cells with lamellar inclusion bodies IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0004298 Abnormality of the abdominal wall IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0004322 Short stature IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0004333 Bone-marrow foam cells IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0006579 Prolonged neonatal jaundice IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0008872 Feeding difficulties in infancy IEA IEA OMIM:257200 HPO 17.02.2009 -OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0010729 Cherry red spot of the macula IEA IEA typical OMIM:257200 SKOEHLER 17.02.2009 +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:257200 NIEMANN-PICK DISEASE, TYPE A HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0000939 Osteoporosis IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001249 Intellectual disability IEA IEA OMIM:257200 SKOEHLER 18.06.2010 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001252 Muscular hypotonia IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001257 Spasticity IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001265 Hyporeflexia IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001324 Muscle weakness IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001508 Failure to thrive IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001538 Protuberant abdomen IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001744 Splenomegaly IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001935 Microcytic anemia IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001982 Sea-blue histiocytosis IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002013 Vomiting IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002019 Constipation IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002063 Rigidity IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002205 Recurrent respiratory infections IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002207 Diffuse reticular or finely nodular infiltrations IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002240 Hepatomegaly IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002305 Athetosis IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0002716 Lymphadenopathy IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0003593 Infantile onset IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0003609 Foam cells with lamellar inclusion bodies IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0004322 Short stature IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0004333 Bone-marrow foam cells IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0006579 Prolonged neonatal jaundice IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0008872 Feeding difficulties in infancy IEA IEA OMIM:257200 HPO 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0010729 Cherry red spot of the macula IEA IEA typical OMIM:257200 SKOEHLER 17.02.2009 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0000991 Xanthomatosis TAS TAS OMIM:257200 probinson 19.07.2012 +OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0006579 Prolonged neonatal jaundice TAS TAS OMIM:257200 p... 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