Disease Browser
Parent Node: Osteochondrodysplasias (D010009) ..Starting node .. Jansen type metaphyseal chondrodysplasia (C537564) Child Nodes:
Sister Nodes: ..Achondrogenesis (C579878) ..Achondroplasia (D000130) 21 ..Acquired Hyperostosis Syndrome (D020083) ..Acrodysostosis (C538179) ..Acrodysplasia scoliosis (C538180) ..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181) ..Acromesomelic dysplasia (C535658) 1 ..Acromesomelic dysplasia Campailla-Martinelli type (C535659) ..Acropectorovertebral Dysplasia, F-Form (C566319) ..Akaba Hayasaka syndrome (C535609) ..Anauxetic dysplasia (C538256) ..Atelosteogenesis type 2 (C535395) ..Atelosteogenesis Type 3 (C579928) ..Atelosteogenesis, type 1 (C535396) ..ATELOSTEOGENESIS, TYPE III (OMIM:108721) ..Auriculoosteodysplasia (C538271) ..Boomerang dysplasia (C536573) ..Brachyolmia (C537098) ..Brachyolmia Type 2 (C563218) ..Brachyolmia Type 3 (C562963) ..Brachyolmia, recessive Hobaek type (C537099) ..Camurati-Engelmann Syndrome (D003966) 4 ..Cantu syndrome (C535572) ..Cartilage hair hypoplasia like syndrome (C535915) ..Cartilage-hair hypoplasia (C535916) ..Chondrodysplasia Calcificans Metaphysealis (C565855) ..Chondrodysplasia Punctata (D002806) 13 ..Chondrodysplasia, blomstrand type (C537914) ..Chondrodysplasia, Grebe type (C537915) ..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330) ..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644) ..Cleidocranial Dysplasia (D002973) 5 ..Cleidorhizomelic syndrome (C536428) ..Cloverleaf skull micromelia thoracic dysplasia (C536429) ..CODAS syndrome (C536434) ..Collagenopathy, type 2 alpha 1 (C535964) ..Coloboma of Alar-nasal cartilages with telecanthus (C535967) ..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307) ..Craniodiaphyseal Dysplasia (C562940) ..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275) ..Czech dysplasia, metatarsal type (C535766) ..Dyggve-Melchior-Clausen syndrome (C535726) ..Dyschondrosteosis and Nephritis (C565080) ..Eiken Skeletal Dysplasia (C564010) ..Ellis-Van Creveld Syndrome (D004613) 6 ..Enchondromatosis (D004687) ..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585) ..Epiphyseal Dysplasia, Baumann Type (C563664) ..Epiphyseal dysplasia, multiple, 1 (C535501) ..Epiphyseal dysplasia, multiple, 2 (C535502) ..Epiphyseal dysplasia, multiple, 3 (C535503) ..Epiphyseal dysplasia, multiple, 4 (C535504) ..Epiphyseal dysplasia, multiple, 5 (C535505) ..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735) ..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420) ..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046) ..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736) ..Fairbank disease (C536393) ..Faye-Petersen Ward Carey syndrome (C537076) ..Fibrous Dysplasia of Bone (D005357) 9 ..Fraser Jequier Chen syndrome (C535481) ..Frontometaphyseal dysplasia (C538064) ..Frontootopalatodigital Osteodysplasia (C567578) ..Ghosal Hematodiaphyseal Dysplasia (C565551) ..HEM dysplasia (C535858) 1 ..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725) ..Hip Dysplasia, Beukes Type (C564185) ..Hyperostosis Frontalis Interna (D006957) 1 ..Hyperostosis, Cortical, Congenital (D006958) 6 ..Hypochondrogenesis (C563007) ..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157) ..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543) ..Jansen type metaphyseal chondrodysplasia (C537564) ..Jequier Kozlowski skeletal dysplasia (C537569) ..Kashin-Beck Disease (D057767) ..Kniest dysplasia (C537207) ..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452) ..Kozlowski Tsuruta Taki syndrome (C537510) ..Langer mesomelic dysplasia (C537267) ..Langer-Giedion Syndrome (D015826) 2 ..Laplane Fontaine Lagardere syndrome (C537869) ..Larsen Syndrome (C580241) ..Larsen syndrome, dominant type (C537873) ..Larsen-Like Syndrome (C563914) ..Leri-Weil syndrome (C537119) ..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065) ..Lowry Wood syndrome (C537038) ..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621) ..Madelung Deformity (C562398) ..Marshall syndrome (C536025) ..Megaepiphyseal dwarfism (C536140) 1 ..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101) ..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589) ..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349) ..Mesomelic Dysplasia, Savarirayan Type (C565349) ..Metaphyseal anadysplasia (C537351) ..Metaphyseal Anadysplasia 1 (C567545) ..Metaphyseal Anadysplasia 2 (C567771) ..Metaphyseal chondrodysplasia Schmid type (C537352) ..Metaphyseal chondrodysplasia Spahr type (C537353) ..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354) ..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398) ..Metaphyseal Chondrodysplasia, Kaitila Type (C565400) ..Metaphyseal Chondrodysplasia, Pena Type (C565399) ..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586) ..Metaphyseal Dysplasia without Hypotrichosis (C563574) ..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395) ..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271) ..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355) ..Metatropic dwarfism (C537356) ..Metatropic Dwarfism, Type II (C581628) ..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577) ..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898) ..Microcephaly-Micromelia Syndrome (C565382) ..Micromelic dwarfism Fryns type (C537556) ..Micromelic dysplasia, congenital, with dislocation of radius (C537557) ..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611) ..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291) ..Nievergelt syndrome (C536120) ..Nivelon Nivelon Mabille syndrome (C536123) ..Omodysplasia 2 (C567664) ..Omodysplasia type 1 (C537746) ..Opsismodysplasia (C537122) ..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380) ..Osteoarthritis with Mild Chondrodysplasia (C565740) ..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478) ..Osteochondroma (D015831) 17 ..Osteodysplasia, Familial, Anderson Type (C564923) ..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922) ..Osteogenesis Imperfecta (D010013) 27 ..Osteoglophonic dwarfism (C536050) ..Osteosclerosis (D010026) 36 ..Oto-Palato-digital syndrome type 1 (C536065) ..Oto-palato-digital syndrome, type 2 (C538089) ..Otopalatodigital Spectrum Disorder (C567577) ..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150) ..Pelvis-Shoulder Dysplasia (C566811) ..Pierre Robin syndrome with fetal chondrodysplasia (C535776) ..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329) ..Polydysspondyly (C565150) ..Pubic Bone Dysplasia (C566735) ..Pycnodysostosis (D058631) ..Pyle disease (C536252) ..Roifman syndrome (C535866) ..Schaefer Stein Oshman syndrome (C536627) ..Schimke immunoosseous dysplasia (C536629) ..Schneckenbecken dysplasia (C536637) ..Short Rib-Polydactyly Syndrome (D012779) 3 ..Short stature syndrome, Brussels type (C537121) ..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666) ..Sketetal dysplasia coarse facies mental retardation (C536671) ..Slipped Capital Femoral Epiphyses (D060048) ..Smith-McCort Dysplasia (C564589) ..Spinal Dysplasia, Anhalt Type (C563348) ..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639) ..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340) ..Spondylodysplasia And Premature Pubarche (C567552) ..Spondyloenchondrodysplasia (C535782) ..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644) ..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783) ..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968) ..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784) ..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785) ..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958) ..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869) ..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574) ..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551) ..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523) ..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786) ..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714) ..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003) ..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796) ..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658) ..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797) ..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772) ..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787) ..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447) ..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472) ..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515) ..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660) ..Spondyloepiphyseal dysplasia, congenita (C535788) ..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252) ..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095) ..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659) ..Spondyloepiphyseal dysplasia, Omani type (C535789) 1 ..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128) ..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507) ..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794) ..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791) ..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825) ..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792) ..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793) ..Spondylometaphyseal dysplasia, Algerian type (C535794) ..Spondylometaphyseal dysplasia, axial (C535795) ..Spondylometaphyseal dysplasia, east-African type (C535796) ..Spondylometaphyseal dysplasia, Kozlowski type (C535797) ..Spondylometaphyseal dysplasia, Sedaghatian type (C535798) ..Spondylometaphyseal Dysplasia, Type A4 (C563803) ..Spondylometaphyseal Dysplasia, X-Linked (C563124) ..Spondyloocular Syndrome, Autosomal Recessive (C565285) ..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700) ..Spondyloperipheral dysplasia short ulna (C535799) ..Spondylospinal Thoracic Dysostosis (C566622) ..Strudwick syndrome (C537501) ..Stuve-Wiedemann syndrome (C537502) ..Teebi Naguib Al Awadi syndrome (C536949) ..Ter Haar syndrome (C537274) ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244) ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554) ..Thoracolaryngopelvic dysplasia (C536517) ..Tracheobronchopathia osteoplastica (C536977) ..Trichoscyphodysplasia (C536557) ..Ulna metaphyseal dysplasia syndrome (C536935) ..Upington disease (C536472) ..Van Buchem disease type 2 (C536527) ..Verloes Bourguignon syndrome (C536538) ..Verloes Van Maldergem Marneffe syndrome (C536540) ..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179) ..Wolcott-Rallison syndrome (C536739) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 5942
Name: Jansen type metaphyseal chondrodysplasia
Definition:
Alternative IDs: OMIM:156400
ParentIDs: MESH:D010009
TreeNumbers: C05.116.099.708/C537564
Synonyms: Metaphyseal Chondrodysplasia, Jansen Type |Metaphyseal chondrodysplasia Murk Jansen type |Metaphyseal Chondrodysplasia, Murk Jansen Type |Murk Jansen type metaphyseal chondrodysplasia
Slim Mappings: Musculoskeletal disease
Reference:
MedGen: C537564
MeSH: C537564
OMIM: 156400 ; Genes: PTH1R ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_000316.2(PTH1R):c.668A>G (p.His223Arg) 5745 PTH1R Pathogenic 121434597 RCV000014749 ; N MedGen:C0265295,OMIM:156400,ORPHA:33067,SNOMED CT:24629003 3 46940181 46940181 NM_000316.2:c.668A>G NP_000307.1:p.His223Arg NC_000003.11:g.46940181A>G OMIM Allelic Variant:168468.0001 C0265295 156400 Metaphyseal chondrodysplasia, Jansen type NM_000316.2(PTH1R):c.1228A>C (p.Thr410Pro) 5745 PTH1R Pathogenic 121434598 RCV000014750 ; N MedGen:C0265295,OMIM:156400,ORPHA:33067,SNOMED CT:24629003 3 46944032 46944032 NM_000316.2:c.1228A>C NP_000307.1:p.Thr410Pro NC_000003.11:g.46944032A>C OMIM Allelic Variant:168468.0002 C0265295 156400 Metaphyseal chondrodysplasia, Jansen type NM_000316.2(PTH1R):c.1229C>G (p.Thr410Arg) 5745 PTH1R Pathogenic 121434602 RCV000014755 ; N MedGen:C0265295,OMIM:156400,ORPHA:33067,SNOMED CT:24629003 3 46944033 46944033 NM_000316.2:c.1229C>G NP_000307.1:p.Thr410Arg NC_000003.11:g.46944033C>G OMIM Allelic Variant:168468.0008 C0265295 156400 Metaphyseal chondrodysplasia, Jansen type NM_000316.2(PTH1R):c.1373T>G (p.Ile458Arg) 5745 PTH1R Pathogenic 121434600 RCV000014754 ; N MedGen:C0265295,OMIM:156400,ORPHA:33067,SNOMED CT:24629003 3 46944258 46944258 NM_000316.2:c.1373T>G NP_000307.1:p.Ile458Arg NC_000003.11:g.46944258T>G OMIM Allelic Variant:168468.0006 C0265295 156400 Metaphyseal chondrodysplasia, Jansen type