From: <pr...@us...> - 2012-07-25 08:12:09
|
Revision: 4480 http://obo.svn.sourceforge.net/obo/?rev=4480&view=rev Author: probins Date: 2012-07-25 08:11:57 +0000 (Wed, 25 Jul 2012) Log Message: ----------- Corrected missing dateCreated fields Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215140.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab 2012-07-24 15:49:43 UTC (rev 4479) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-208150.tab 2012-07-25 08:11:57 UTC (rev 4480) @@ -1,39 +1,39 @@ 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:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000007 Autosomal recessive inheritance IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000028 Cryptorchidism IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000156 High-arched palate IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000160 Narrow mouth IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000175 Cleft palate IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000238 Hydrocephalus IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000316 Hypertelorism IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000343 Long philtrum IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000437 Depressed nasal tip IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000470 Short neck IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000506 Telecanthus IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000508 Ptosis IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000883 Thin ribs IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001193 Ulnar deviation of the hand or of fingers of the hand IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001196 Short umbilical cord IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001321 Cerebellar hypoplasia IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001331 Absent septum pellucidum IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001438 Abnormality of the abdomen IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001511 Intrauterine growth retardation IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001518 Small for gestational age IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001561 Polyhydramnios IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001622 Premature birth IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001762 Talipes equinovarus IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0002089 Pulmonary hypoplasia IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0002389 Cavum septum pellucidum IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0003100 Slender long bone IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0003070 Elbow ankylosis IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0009074 Diffuse amyotrophy IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0006266 Small placenta IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000358 Posteriorly rotated ears TAS TAS MIM:208150 probinson -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0100490 Camptodactyly of finger IEA IEA -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000347 Micrognathia TAS TAS MIM:208150 probinson -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000581 Blepharophimosis TAS TAS MIM:208150 probinson -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000520 Proptosis TAS TAS MIM:208150 probinson -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0005257 Thoracic hypoplasia TAS TAS MIM:208150 probinson -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0003826 Stillbirth TAS TAS 30% MIM:208150 probinson -MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001838 Vertical talus TAS TAS MIM:208150 probinson +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001838 Vertical talus TAS TAS MIM:208150 probinson 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0003826 Stillbirth TAS TAS 30% MIM:208150 probinson 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001762 Talipes equinovarus IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000506 Telecanthus IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000883 Thin ribs IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0005257 Thoracic hypoplasia TAS TAS MIM:208150 probinson 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001193 Ulnar deviation of the hand or of fingers of the hand IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001438 Abnormality of the abdomen IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001331 Absent septum pellucidum IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000007 Autosomal recessive inheritance IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000581 Blepharophimosis TAS TAS MIM:208150 probinson 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0100490 Camptodactyly of finger IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0002389 Cavum septum pellucidum IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001321 Cerebellar hypoplasia IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000175 Cleft palate IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000028 Cryptorchidism IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000437 Depressed nasal tip IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0009074 Diffuse amyotrophy IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0003070 Elbow ankylosis IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000156 High-arched palate IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000238 Hydrocephalus IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000316 Hypertelorism IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001511 Intrauterine growth retardation IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000343 Long philtrum IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000347 Micrognathia TAS TAS MIM:208150 probinson 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000160 Narrow mouth IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001561 Polyhydramnios IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000358 Posteriorly rotated ears TAS TAS MIM:208150 probinson 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001622 Premature birth IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000520 Proptosis TAS TAS MIM:208150 probinson 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000508 Ptosis IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0002089 Pulmonary hypoplasia IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0000470 Short neck IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001196 Short umbilical cord IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0003100 Slender long bone IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0001518 Small for gestational age IEA IEA MIM:208150 HPO 25.07.2012 +MIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE DOK7, RAPSN HP:0006266 Small placenta IEA IEA MIM:208150 HPO 25.07.2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215140.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215140.tab 2012-07-24 15:49:43 UTC (rev 4479) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-215140.tab 2012-07-25 08:11:57 UTC (rev 4480) @@ -1,77 +1,78 @@ 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:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000007 Autosomal recessive inheritance PCS PCS PMID:11113916; PMID:14684694 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000256 Macrocephaly PCS PCS PMID:12210303; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000327 Hypoplasia of the maxilla PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000774 Narrow chest PCS PCS PMID:3377005; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001162 Postaxial polydactyly (hands) PCS PCS PMID:8213919; PMID:12618959; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003107 Abnormality of cholesterol metabolism PCS PCS Elevated cholesta-8,14-dien-3-beta-ol (earlier pub was the first to note the elevated reading; these were the only 2 pubs to check). PMID:12618959; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009106 Abnormal pelvis bone ossification PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002787 Tracheal calcifications PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002983 Micromelia PCS PCS PMID:11113916; PMID:14684694 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004331 Decreased skull ossification PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004598 Supernumerary vertebral ossification centers TAS TAS MIM:215140 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004847 extramedullary erythropoiesis PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001790 Nonimmune hydrops fetalis PCS PCS PMID:12210303; PMID:12618959; PMID:14684697; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006619 Anterior rib punctate calcifications PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006637 Sternal punctate calcifications PCS PCS PMID:3377005; PMID:8213919 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008754 Laryngeal calcifications PCS PCS PMID:3377005; PMID:12210303; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002202 Pleural effusion PCS PCS Others may have this as hydrops but this patient had only pleural effusion, so wasn't classified as hydrops. PMID:3377005 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005855 Multiple prenatal fractures PCS PCS PMID:11113916; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000347 Micrognathia PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003015 Flared metaphyses PCS PCS PMID:3377005 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005908 Diaphyseal bowing of long bones PCS PCS Terms used were curved and angulated diaphyses PMID:12210303; PMID:12618959 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000476 Cystic hygroma PCS PCS PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008914 Dwarfism, short-limb, prenatal onset PCS PCS PMID:14684694; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001539 Omphalocele PCS PCS PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002101 Abnormal lung lobation PCS PCS Term used was hypolobation of lung PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000272 Malar flattening PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005528 Bone marrow hypocellularity PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001561 Polyhydramnios PCS PCS PMID:12210303; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005716 Lethal skeletal dysplasia PCS PCS PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003811 Neonatal death PCS PCS PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000890 Long clavicles PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000878 11 pairs of ribs PCS PCS PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002658 Stippled epiphyses PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000209 Abnormality of the jaws PCS PCS Term used was avulsed jaw PMID:3377005 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000316 Hypertelorism PCS PCS PMID:14684697; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003330 Abnormal bone structure PCS PCS Term is for abrupt cartilage-bone transition, tidemarks, cartilage column formation absent, physeal growth zone absent. The information wasn't available for the other two so they were excluded from the frequency. PMID:3377005; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001169 Broad palm PCS PCS PMID:3377005; PMID:11180245 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009803 Short phalanx of finger PCS PCS PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001569 Malposition of teeth PCS PCS Term used was ectopic teeth (larynx, trachea) PMID:3377005 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000782 Abnormality of the scapula PCS PCS PMID:3377005; PMID:11180245; PMID:12618959 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000773 Short ribs PCS PCS PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001552 Barrel-shaped chest PCS PCS PMID:8213919; PMID:11180245; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001640 Cardiomegaly PCS PCS PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001433 Hepatosplenomegaly PCS PCS PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002240 Hepatomegaly PCS PCS PMID:14684697; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002089 Pulmonary hypoplasia PCS PCS PMID:11113916; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002242 Abnormality of the intestine PCS PCS Actual term used was hyperechogenic bowel (two other echogenic terms in HPO but not this one). PMID:11113916; PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000348 High forehead PCS PCS PMID:14684697 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000425 Flattened nasal bridge PCS PCS PMID:14684697; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000369 Low-set ears PCS PCS PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001830 Postaxial polydactyly of foot PCS PCS PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000315 Abnormality of the orbital region PCS PCS Term used was highly-arched orbit; distinct from prominent supraorbital ridge PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008479 Hypoplastic vertebral bodies PCS PCS PMID:3377005 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004510 Pancreatic islet-cell hypertrophy PCS PCS PMID:3377005 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001802 Absent toenails PCS PCS PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001804 Hypoplastic fingernail PCS PCS PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008417 Vertebral hypoplasia PCS PCS Term used was poor pedicular and laminar development. PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006559 Hepatic calcification PCS PCS PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001367 Abnormal joint morphology PCS PCS Defective or absent joint formation PMID:12618959 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009487 Ulnar deviation of the hand PCS PCS PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001852 Sandal gap PCS PCS PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002566 Intestinal malrotation PCS PCS PMID:11113916 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003440 Horizontal sacrum PCS PCS PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003021 Metaphyseal cupping PCS PCS PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008364 Abnormality of the calcaneus PCS PCS Term used was rudimentary calcaneous PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000941 Short diaphyses PCS PCS PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005019 Diaphyseal thickening PCS PCS PMID:8213919 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000944 Abnormality of the metaphyses PCS PCS Short and thick metaphyses PMID:8213919 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008370 Abnormal ossification involving bones of the feet PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002694 Sclerosis of skull base PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008516 Abnormality of the vertebral spinous processes PCS PCS Dense bones in spinous processes; couldn't find a specific sclerosis or osteosclerosis term. PMID:3377005; PMID:8213919 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004599 Absent or minimally ossified vertebral bodies PCS PCS PMID:3377005 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009107 Abnormal ossification involving the femoral head and neck PCS PCS PMID:3377005; PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008420 Punctate vertebral calcifications PCS PCS This one didn't mention platyspondyly so I curated separately. Frequency 1/12 or 1/1? -> Sandra: 1/12 if calcifications of vertebrae only in this one patient (otherwise it would be x of 12) -> other pubs should have noted vertebral calcifications if they were present PMID:18382993 -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0010659 Patchy variation in bone mineral density HPO:sdoelken -MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000926 Platyspondyly TAS TAS MIM:215140 probinson +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000007 Autosomal recessive inheritance PCS PCS PMID:11113916; PMID:14684694 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000256 Macrocephaly PCS PCS PMID:12210303; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000327 Hypoplasia of the maxilla PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000774 Narrow chest PCS PCS PMID:3377005; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001162 Postaxial polydactyly (hands) PCS PCS PMID:8213919; PMID:12618959; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003107 Abnormality of cholesterol metabolism PCS PCS Elevated cholesta-8,14-dien-3-beta-ol (earlier pub was the first to note the elevated reading; these were the only 2 pubs to check). PMID:12618959; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009106 Abnormal pelvis bone ossification PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002787 Tracheal calcifications PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002983 Micromelia PCS PCS PMID:11113916; PMID:14684694 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004331 Decreased skull ossification PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004598 Supernumerary vertebral ossification centers TAS TAS MIM:215140 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004847 extramedullary erythropoiesis PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001790 Nonimmune hydrops fetalis PCS PCS PMID:12210303; PMID:12618959; PMID:14684697; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006619 Anterior rib punctate calcifications PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006637 Sternal punctate calcifications PCS PCS PMID:3377005; PMID:8213919 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008754 Laryngeal calcifications PCS PCS PMID:3377005; PMID:12210303; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002202 Pleural effusion PCS PCS Others may have this as hydrops but this patient had only pleural effusion, so wasn't classified as hydrops. PMID:3377005 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005855 Multiple prenatal fractures PCS PCS PMID:11113916; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000347 Micrognathia PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003015 Flared metaphyses PCS PCS PMID:3377005 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005908 Diaphyseal bowing of long bones PCS PCS Terms used were curved and angulated diaphyses PMID:12210303; PMID:12618959 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000476 Cystic hygroma PCS PCS PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008914 Dwarfism, short-limb, prenatal onset PCS PCS PMID:14684694; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001539 Omphalocele PCS PCS PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002101 Abnormal lung lobation PCS PCS Term used was hypolobation of lung PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000272 Malar flattening PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005528 Bone marrow hypocellularity PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001561 Polyhydramnios PCS PCS PMID:12210303; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005716 Lethal skeletal dysplasia PCS PCS PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003811 Neonatal death PCS PCS PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000890 Long clavicles PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000878 11 pairs of ribs PCS PCS PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002658 Stippled epiphyses PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000209 Abnormality of the jaws PCS PCS Term used was avulsed jaw PMID:3377005 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000316 Hypertelorism PCS PCS PMID:14684697; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003330 Abnormal bone structure PCS PCS Term is for abrupt cartilage-bone transition, tidemarks, cartilage column formation absent, physeal growth zone absent. The information wasn't available for the other two so they were excluded from the frequency. PMID:3377005; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001169 Broad palm PCS PCS PMID:3377005; PMID:11180245 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009803 Short phalanx of finger PCS PCS PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001569 Malposition of teeth PCS PCS Term used was ectopic teeth (larynx, trachea) PMID:3377005 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000782 Abnormality of the scapula PCS PCS PMID:3377005; PMID:11180245; PMID:12618959 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000773 Short ribs PCS PCS PMID:3377005; PMID:8213919; PMID:11113916; PMID:11180245; PMID:12210303; PMID:12618959; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001552 Barrel-shaped chest PCS PCS PMID:8213919; PMID:11180245; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001640 Cardiomegaly PCS PCS PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001433 Hepatosplenomegaly PCS PCS PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002240 Hepatomegaly PCS PCS PMID:14684697; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002089 Pulmonary hypoplasia PCS PCS PMID:11113916; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002242 Abnormality of the intestine PCS PCS Actual term used was hyperechogenic bowel (two other echogenic terms in HPO but not this one). PMID:11113916; PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000348 High forehead PCS PCS PMID:14684697 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000425 Flattened nasal bridge PCS PCS PMID:14684697; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000369 Low-set ears PCS PCS PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001830 Postaxial polydactyly of foot PCS PCS PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000315 Abnormality of the orbital region PCS PCS Term used was highly-arched orbit; distinct from prominent supraorbital ridge PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008479 Hypoplastic vertebral bodies PCS PCS PMID:3377005 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004510 Pancreatic islet-cell hypertrophy PCS PCS PMID:3377005 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001802 Absent toenails PCS PCS PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001804 Hypoplastic fingernail PCS PCS PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008417 Vertebral hypoplasia PCS PCS Term used was poor pedicular and laminar development. PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0006559 Hepatic calcification PCS PCS PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009487 Ulnar deviation of the hand PCS PCS PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001852 Sandal gap PCS PCS PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002566 Intestinal malrotation PCS PCS PMID:11113916 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003440 Horizontal sacrum PCS PCS PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0003021 Metaphyseal cupping PCS PCS PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008364 Abnormality of the calcaneus PCS PCS Term used was rudimentary calcaneous PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000941 Short diaphyses PCS PCS PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0005019 Diaphyseal thickening PCS PCS PMID:8213919 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000944 Abnormality of the metaphyses PCS PCS Short and thick metaphyses PMID:8213919 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008370 Abnormal ossification involving bones of the feet PCS PCS PMID:3377005; PMID:8213919; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0002694 Sclerosis of skull base PCS PCS PMID:3377005; PMID:8213919; PMID:11180245; PMID:12210303 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008516 Abnormality of the vertebral spinous processes PCS PCS Dense bones in spinous processes; couldn't find a specific sclerosis or osteosclerosis term. PMID:3377005; PMID:8213919 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0004599 Absent or minimally ossified vertebral bodies PCS PCS PMID:3377005 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0009107 Abnormal ossification involving the femoral head and neck PCS PCS PMID:3377005; PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0008420 Punctate vertebral calcifications PCS PCS This one didn't mention platyspondyly so I curated separately. Frequency 1/12 or 1/1? -> Sandra: 1/12 if calcifications of vertebrae only in this one patient (otherwise it would be x of 12) -> other pubs should have noted vertebral calcifications if they were present PMID:18382993 HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0010659 Patchy variation in bone mineral density IEA IEA HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0000926 Platyspondyly TAS TAS MIM:215140 probinson 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0010659 Patchy variation in bone mineral density IEA IEA HPO 25.07.2012 +MIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA MIM:600024 LAMIN B RECEPTOR MIM:600024 / MIM:600024 LBR HP:0001367 Abnormal joint morphology PCS PCS Defective or absent joint formation PMID:12618959 HPO 25.07.2012 This was sent by the SourceForge.net collaborative development platform, the world's largest Open Source development site. |